#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
KIF1B	23095	broad.mit.edu	37	1	10292474	10292474	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:10292474A>G	ENST00000377086.1	+	2	290	c.88A>G	c.(88-90)Atg>Gtg	p.M30V	KIF1B_ENST00000263934.6_Missense_Mutation_p.M30V|KIF1B_ENST00000377093.4_Missense_Mutation_p.M30V|KIF1B_ENST00000377083.1_Missense_Mutation_p.M30V|KIF1B_ENST00000377081.1_Missense_Mutation_p.M30V			O60333	KIF1B_HUMAN	kinesin family member 1B	30	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.M30V(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATCATTCAGATGCAAGGCAA	0.468																																							uc001aqx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(88-90)ATG>GTG		kinesin family member 1B isoform b							114.0	99.0	104.0					1																	10292474		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10292474A>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.88A>G	1.37:g.10292474A>G	ENSP00000366290:p.Met30Val					KIF1B_uc001aqv.3_Missense_Mutation_p.M30V|KIF1B_uc001aqw.3_Missense_Mutation_p.M30V|KIF1B_uc001aqy.2_Missense_Mutation_p.M30V|KIF1B_uc001aqz.2_Missense_Mutation_p.M30V|KIF1B_uc001ara.2_Missense_Mutation_p.M30V|KIF1B_uc001arb.2_Missense_Mutation_p.M30V|KIF1B_uc009vmt.2_RNA	p.M30V	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	2	290	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	30			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.88A>G		.	.	.	.	.	.	.	.	.	.	A	22.2	4.259007	0.80246	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.41	5.41	0.78517	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	N	0.20445	0.575	0.80722	D	1	P;P;P;D;B;P;P	0.69078	0.949;0.953;0.803;0.997;0.371;0.923;0.798	P;P;P;D;P;P;B	0.68039	0.709;0.709;0.64;0.955;0.449;0.526;0.359	D	0.89220	0.3570	10	0.51188	T	0.08	.	15.7378	0.77859	1.0:0.0:0.0:0.0	.	30;30;30;30;30;30;30	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	V	30	ENSP00000263934:M30V;ENSP00000366297:M30V;ENSP00000366290:M30V;ENSP00000366287:M30V;ENSP00000366284:M30V	ENSP00000263934:M30V	M	+	1	0	KIF1B	10215061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.635000	0.91006	2.184000	0.69523	0.477000	0.44152	ATG		0.468	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			15	21	0	0	0	0.008871	0	15	21				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																							uc009vos.1		NA																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	52	0	0	0	0.009096	0	3	52				
HECTD3	79654	broad.mit.edu	37	1	45471493	45471493	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:45471493C>A	ENST00000372172.4	-	15	1979	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.K246N	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	636	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K246N(1)|p.K352N(1)|p.K636N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGAAGTCCTTGCTCCAGC	0.562																																							uc009vxk.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1906-1908)AAG>AAT		HECT domain containing 3							82.0	86.0	85.0					1																	45471493		2115	4219	6334	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45471493C>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1908G>T	1.37:g.45471493C>A	ENSP00000361245:p.Lys636Asn					HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.K246N|HECTD3_uc010olh.1_Missense_Mutation_p.K352N	p.K636N	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			15	2006	-	Acute lymphoblastic leukemia(166;0.155)		636			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1908G>T	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582576	0.65992	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.55760	0.5;0.5	5.07	1.93	0.25924	HECT (4);	0.046168	0.85682	D	0.000000	T	0.62073	0.2398	L	0.48935	1.535	0.58432	D	0.999996	D;D	0.76494	0.999;0.986	D;P	0.85130	0.997;0.775	T	0.62459	-0.6850	10	0.66056	D	0.02	.	10.4312	0.44409	0.0:0.7019:0.0:0.2981	.	636;246	Q5T447;Q5T447-2	HECD3_HUMAN;.	N	636;246	ENSP00000361245:K636N;ENSP00000361241:K246N	ENSP00000361241:K246N	K	-	3	2	HECTD3	45244080	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	0.186000	0.16978	0.696000	0.31696	0.561000	0.74099	AAG		0.562	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		35	59	1	0	1.04594e-18	0.00623	1.27436e-18	35	59				
FAF1	11124	broad.mit.edu	37	1	50941262	50941262	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:50941262G>A	ENST00000396153.2	-	18	2194	c.1743C>T	c.(1741-1743)ccC>ccT	p.P581P	FAF1_ENST00000371778.4_Silent_p.P581P|FAF1_ENST00000545823.1_Silent_p.P339P	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	581	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.P581P(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		ACTCGCCACTGGGGGTCCGGA	0.542																																							uc009vyx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1741-1743)CCC>CCT		FAS-associated factor 1							57.0	60.0	59.0					1																	50941262		2203	4300	6503	SO:0001819	synonymous_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50941262G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1743C>T	1.37:g.50941262G>A						FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.P581P|FAF1_uc010onc.1_Silent_p.P339P	p.P581P	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	19	1806	-			581			UBX.		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	c.1743C>T	CCDS554.1																																																																																				0.542	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		29	36	0	0	0	0.007291	0	29	36				
FCGR3A	2214	broad.mit.edu	37	1	161599819	161599819	+	Intron	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:161599819A>G	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L59P|FCGR3B_ENST00000294800.3_Missense_Mutation_p.L23P|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L23P|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L23P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTTGGGAGATCTTCTGA	0.547																																							uc009wul.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CTC>CCC		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						27.0	31.0	30.0					1																	161599819		2086	4255	6341	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599819A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+338T>C	1.37:g.161599819A>G							p.L23P	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	342	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		23					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.68T>C		.	.	.	.	.	.	.	.	.	.	A	7.700	0.692987	0.15039	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	2.79	-5.57	0.02521	Immunoglobulin-like fold (1);	1.296780	0.05262	N	0.515974	T	0.01156	0.0038	N	0.17838	0.53	0.26347	N	0.977264	B	0.02656	0.0	B	0.01281	0.0	T	0.45469	-0.9259	10	0.23891	T	0.37	.	4.8779	0.13665	0.3258:0.0:0.4955:0.1787	.	23	O75015	FCG3B_HUMAN	P	23;23;59;6	ENSP00000356941:L23P;ENSP00000294800:L23P;ENSP00000433642:L59P;ENSP00000437084:L6P	ENSP00000294800:L23P	L	-	2	0	FCGR3B	159866443	0.000000	0.05858	0.032000	0.17829	0.515000	0.34225	-2.594000	0.00896	-1.636000	0.01533	-0.575000	0.04146	CTC		0.547	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		26	38	0	0	0	0.009535	0	26	38				
SMG7	9887	broad.mit.edu	37	1	183486889	183486889	+	Silent	SNP	G	G	A	rs372417959		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:183486889G>A	ENST00000347615.2	+	4	365	c.246G>A	c.(244-246)ccG>ccA	p.P82P	SMG7_ENST00000367537.3_Silent_p.P111P|SMG7_ENST00000507469.1_Silent_p.P82P|SMG7_ENST00000508461.1_Silent_p.P40P|SMG7_ENST00000515829.2_Silent_p.P82P|SMG7_ENST00000456731.2_Silent_p.P40P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	82					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.P82P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAGCAAATCCGAATCGGAGTG	0.418																																							uc001gqg.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(244-246)CCG>CCA		SMG-7 homolog isoform 1		G	,,,	0,4406		0,0,2203	192.0	178.0	183.0		120,246,246,246	2.0	1.0	1		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMG7	NM_001174061.1,NM_173156.2,NM_201568.2,NM_201569.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	40/1146,82/1138,82/1092,82/1179	183486889	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183486889G>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.246G>A	1.37:g.183486889G>A						SMG7_uc010pob.1_Silent_p.P111P|SMG7_uc001gqf.2_Silent_p.P82P|SMG7_uc001gqh.2_Silent_p.P82P|SMG7_uc001gqi.2_Silent_p.P40P|SMG7_uc010poc.1_Silent_p.P40P	p.P82P	NM_173156	NP_775179	Q92540	SMG7_HUMAN			4	368	+			82					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.246G>A	CCDS1355.1																																																																																				0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		28	228	0	0	0	0.009535	0	28	228				
TPR	7175	broad.mit.edu	37	1	186329117	186329117	+	Silent	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:186329117A>C	ENST00000367478.4	-	12	1499	c.1203T>G	c.(1201-1203)gcT>gcG	p.A401A	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	401					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A401A(1)|p.A402A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCCACATAAGCATTATAGA	0.328			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1201-1203)GCT>GCG		nuclear pore complex-associated protein TPR							99.0	87.0	91.0					1																	186329117		1842	4083	5925	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329117A>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1203T>G	1.37:g.186329117A>C						TPR_uc010pop.1_Silent_p.A477A	p.A401A	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	12	1500	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	401					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1203T>G	CCDS41446.1																																																																																				0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		26	46	0	0	0	0.005443	0	26	46				
NAV1	89796	broad.mit.edu	37	1	201777624	201777624	+	Silent	SNP	G	G	T	rs367990498		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:201777624G>T	ENST00000367296.4	+	19	4344	c.3924G>T	c.(3922-3924)tcG>tcT	p.S1308S	NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000295624.6_Silent_p.S1305S|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.S914S|NAV1_ENST00000367302.1_Silent_p.S1261S|NAV1_ENST00000367300.3_Silent_p.S1248S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1308					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1305S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGGAGGTATCGGAGCTGCGCT	0.562																																							uc001gwu.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(3913-3915)TCG>TCT		neuron navigator 1							69.0	70.0	70.0					1																	201777624		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777624G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3924G>T	1.37:g.201777624G>T						NAV1_uc001gwx.2_Silent_p.S914S|MIR1231_hsa-mir-1231|MI0006321_5'Flank	p.S1305S	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			18	4262	+			1308			Potential.		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3915G>T	CCDS1414.2																																																																																				0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		36	75	1	0	9.8876e-21	0.004878	1.24772e-20	36	75				
MIA3	375056	broad.mit.edu	37	1	222801788	222801788	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:222801788A>T	ENST00000344922.5	+	4	1251	c.1226A>T	c.(1225-1227)gAg>gTg	p.E409V	MIA3_ENST00000344441.6_Missense_Mutation_p.E409V|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.E409V	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	409					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E409V(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTAGTTCAGAGGAAGAAAAA	0.403																																							uc001hnl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1225-1227)GAG>GTG		melanoma inhibitory activity family, member 3							104.0	97.0	99.0					1																	222801788		1912	4134	6046	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801788A>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1226A>T	1.37:g.222801788A>T	ENSP00000340900:p.Glu409Val					MIA3_uc009xea.1_Missense_Mutation_p.E245V	p.E409V	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1235	+			409			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1226A>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967801	0.53507	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.45276	0.9;0.9;1.09	4.43	-1.26	0.09376	.	.	.	.	.	T	0.30262	0.0759	L	0.38175	1.15	0.22719	N	0.998813	P;P	0.44044	0.825;0.483	B;B	0.43103	0.408;0.163	T	0.18493	-1.0335	9	0.87932	D	0	.	3.1079	0.06348	0.5229:0.2721:0.0743:0.1307	.	409;409	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	V	409	ENSP00000340900:E409V;ENSP00000340587:E409V;ENSP00000341348:E409V	ENSP00000325973:E409V	E	+	2	0	MIA3	220868411	0.940000	0.31905	0.000000	0.03702	0.572000	0.35998	2.106000	0.41835	-0.456000	0.07043	0.254000	0.18369	GAG		0.403	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		59	114	0	0	0	0.01441	0	59	114				
WDR64	128025	broad.mit.edu	37	1	241929587	241929587	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:241929587T>C	ENST00000366552.2	+	15	2192	c.1985T>C	c.(1984-1986)aTa>aCa	p.I662T	WDR64_ENST00000437684.2_Missense_Mutation_p.I662T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	662								p.I662T(1)|p.I382T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATAATTTGATAGCAGCTGGA	0.338																																							uc001hzf.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1144-1146)ATA>ACA		WD repeat domain 64							143.0	142.0	142.0					1																	241929587		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241929587T>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1985T>C	1.37:g.241929587T>C	ENSP00000355510:p.Ile662Thr					WDR64_uc001hzg.1_Missense_Mutation_p.I128T	p.I382T	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		10	1298	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	662			WD 9.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1145T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.432|9.432	1.085864|1.085864	0.20390|0.20390	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.57107|.	0.42;0.42;4.69|.	4.91|4.91	4.91|4.91	0.64330|0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.371864|.	0.25453|.	N|.	0.030564|.	T|.	0.60392|.	0.2265|.	M|M	0.64997|0.64997	1.995|1.995	0.33186|0.33186	D|D	0.550164|0.550164	D;P|.	0.56968|.	0.978;0.759|.	P;B|.	0.54856|.	0.762;0.306|.	T|.	0.70450|.	-0.4868|.	10|.	0.87932|.	D|.	0|.	-19.9909|-19.9909	12.0745|12.0745	0.53636|0.53636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	662;382|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	T|Q	662;662;433|141	ENSP00000355510:I662T;ENSP00000402446:I662T;ENSP00000406656:I433T|.	ENSP00000355510:I662T|.	I|X	+|+	2|1	0|0	WDR64|WDR64	239996210|239996210	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.114000|0.114000	0.19823|0.19823	4.329000|4.329000	0.59260|0.59260	1.846000|1.846000	0.53633|0.53633	0.528000|0.528000	0.53228|0.53228	ATA|TAG		0.338	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		35	93	0	0	0	0.004289	0	35	93				
MYPN	84665	broad.mit.edu	37	10	69934146	69934146	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr10:69934146C>G	ENST00000358913.5	+	11	2785	c.2297C>G	c.(2296-2298)tCt>tGt	p.S766C	MYPN_ENST00000354393.2_Missense_Mutation_p.S491C|MYPN_ENST00000540630.1_Missense_Mutation_p.S766C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	766					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S766C(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTCTTAGTGTCTCACCCCTCT	0.522																																							uc001jnm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2296-2298)TCT>TGT		myopalladin							98.0	91.0	93.0					10																	69934146		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934146C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2297C>G	10.37:g.69934146C>G	ENSP00000351790:p.Ser766Cys					MYPN_uc001jnn.3_Missense_Mutation_p.S491C|MYPN_uc001jno.3_Missense_Mutation_p.S766C|MYPN_uc009xpt.2_Missense_Mutation_p.S766C|MYPN_uc010qit.1_Missense_Mutation_p.S472C|MYPN_uc010qiu.1_RNA	p.S766C	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2482	+			766					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2297C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418177	0.25552	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60040	0.22;0.26;0.24	5.7	4.7	0.59300	.	0.849878	0.10999	N	0.610683	T	0.46889	0.1416	N	0.24115	0.695	0.23981	N	0.996278	P;P;P	0.48503	0.911;0.911;0.856	B;P;B	0.46479	0.391;0.518;0.219	T	0.21965	-1.0230	9	.	.	.	.	6.6458	0.22934	0.1497:0.6888:0.0:0.1615	.	766;491;766	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	491;491;766;766	ENSP00000346369:S491C;ENSP00000351790:S766C;ENSP00000441668:S766C	.	S	+	2	0	MYPN	69604152	0.207000	0.23482	0.530000	0.27963	0.459000	0.32528	0.832000	0.27490	1.243000	0.43853	0.655000	0.94253	TCT		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		76	64	0	0	0	0.01441	0	76	64				
DCHS1	8642	broad.mit.edu	37	11	6647528	6647528	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:6647528C>T	ENST00000299441.3	-	16	6859	c.6448G>A	c.(6448-6450)Gga>Aga	p.G2150R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2150	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2150R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAAAGGCTCCTCCACTCTCT	0.592																																							uc001mem.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(6448-6450)GGA>AGA		dachsous 1 precursor							67.0	58.0	61.0					11																	6647528		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6647528C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6448G>A	11.37:g.6647528C>T	ENSP00000299441:p.Gly2150Arg						p.G2150R	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	16	6858	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2150			Cadherin 20.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.6448G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221435	0.58560	.	.	ENSG00000166341	ENST00000299441	T	0.49720	0.77	4.75	4.75	0.60458	Cadherin (3);Cadherin-like (1);	0.000000	0.44285	D	0.000461	T	0.68247	0.2980	M	0.85299	2.745	0.39188	D	0.962908	D	0.69078	0.997	D	0.70016	0.967	T	0.73802	-0.3868	10	0.59425	D	0.04	.	10.5087	0.44849	0.0:0.9119:0.0:0.0881	.	2150	Q96JQ0	PCD16_HUMAN	R	2150	ENSP00000299441:G2150R	ENSP00000299441:G2150R	G	-	1	0	DCHS1	6604104	0.723000	0.28027	1.000000	0.80357	0.991000	0.79684	1.648000	0.37271	2.486000	0.83907	0.557000	0.71058	GGA		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	20	0	0	0	0.000602	0	4	20				
OR10A6	390093	broad.mit.edu	37	11	7949674	7949674	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:7949674C>T	ENST00000309838.2	-	1	535	c.536G>A	c.(535-537)tGt>tAt	p.C179Y		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGGTTTCACAAGATATATG	0.363																																							uc010rbh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(535-537)TGT>TAT		olfactory receptor, family 10, subfamily A,							43.0	43.0	43.0					11																	7949674		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949674C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.536G>A	11.37:g.7949674C>T	ENSP00000312470:p.Cys179Tyr						p.C179Y	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	536	-			179			Extracellular (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.536G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353442	0.41700	.	.	ENSG00000175393	ENST00000309838	T	0.61980	0.06	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	D	0.85809	0.5783	H	0.97240	3.965	0.32813	D	0.501729	D	0.89917	1.0	D	0.91635	0.999	D	0.91875	0.5511	10	0.87932	D	0	.	14.6962	0.69124	0.0:1.0:0.0:0.0	.	179	Q8NH74	O10A6_HUMAN	Y	179	ENSP00000312470:C179Y	ENSP00000312470:C179Y	C	-	2	0	OR10A6	7906250	1.000000	0.71417	0.996000	0.52242	0.425000	0.31504	5.414000	0.66405	2.405000	0.81733	0.655000	0.94253	TGT		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		22	22	0	0	0	0.00278	0	22	22				
HIPK3	10114	broad.mit.edu	37	11	33373334	33373334	+	Silent	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:33373334G>C	ENST00000303296.4	+	15	3293	c.2988G>C	c.(2986-2988)gtG>gtC	p.V996V	HIPK3_ENST00000379016.3_Silent_p.V975V|HIPK3_ENST00000525975.1_Silent_p.V975V|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_Silent_p.V975V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	996	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V996V(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTGTTGTGGTGCCACCAGTGG	0.453																																							uc001mul.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(2986-2988)GTG>GTC		homeodomain interacting protein kinase 3 isoform							104.0	83.0	90.0					11																	33373334		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373334G>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2988G>C	11.37:g.33373334G>C						HIPK3_uc001mum.1_Silent_p.V975V|HIPK3_uc009yjv.1_Silent_p.V975V	p.V996V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			15	3258	+			996			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.2988G>C	CCDS7884.1																																																																																				0.453	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		21	29	0	0	0	0.00278	0	21	29				
NR1H3	10062	broad.mit.edu	37	11	47283259	47283259	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:47283259G>A	ENST00000467728.1	+	5	2108	c.870G>A	c.(868-870)ctG>ctA	p.L290L	NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Silent_p.L245L|NR1H3_ENST00000441012.2_Silent_p.L290L|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Silent_p.L245L|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	290	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L290L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTGCCCTGCTGAAGACCTCTG	0.582																																							uc009ylm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(868-870)CTG>CTA		nuclear receptor subfamily 1, group H, member 3							56.0	54.0	55.0					11																	47283259		2201	4298	6499	SO:0001819	synonymous_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283259G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.870G>A	11.37:g.47283259G>A						NR1H3_uc009yll.1_Silent_p.L296L|NR1H3_uc010rhk.1_Silent_p.L296L|NR1H3_uc001nek.2_Silent_p.L245L|NR1H3_uc001nej.2_Intron|NR1H3_uc001nel.2_Silent_p.L245L|NR1H3_uc001nen.3_Intron|NR1H3_uc001nem.2_Silent_p.L290L|NR1H3_uc001nep.2_Intron	p.L290L	NM_005693	NP_005684	Q13133	NR1H3_HUMAN			6	1091	+			290			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	c.870G>A	CCDS7929.1																																																																																				0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			29	39	0	0	0	0.008361	0	29	39				
INTS5	80789	broad.mit.edu	37	11	62416429	62416429	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:62416429G>A	ENST00000330574.2	-	2	1175	c.1123C>T	c.(1123-1125)Cac>Tac	p.H375Y	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	375					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.H375Y(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCTTGAAGGTGTTGCTGCAGC	0.602																																							uc001nud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1123-1125)CAC>TAC		integrator complex subunit 5							39.0	37.0	37.0					11																	62416429		2202	4298	6500	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416429G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1123C>T	11.37:g.62416429G>A	ENSP00000327889:p.His375Tyr					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.H375Y	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1176	-			375					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1123C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	1.300	-0.605112	0.03717	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.78	3.87	0.44632	.	0.067210	0.64402	D	0.000009	T	0.30978	0.0782	L	0.36672	1.1	0.31759	N	0.633575	P	0.44195	0.828	B	0.40477	0.33	T	0.31024	-0.9958	9	0.21540	T	0.41	.	10.8074	0.46527	0.0921:0.0:0.9079:0.0	.	375	Q6P9B9	INT5_HUMAN	Y	375	.	ENSP00000327889:H375Y	H	-	1	0	INTS5	62173005	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.948000	0.70249	1.246000	0.43901	-0.145000	0.13849	CAC		0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		15	56	0	0	0	0.003163	0	15	56				
IGHMBP2	3508	broad.mit.edu	37	11	68682465	68682465	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:68682465A>G	ENST00000255078.3	+	6	997	c.886A>G	c.(886-888)Atc>Gtc	p.I296V		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	296	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.I296V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTTGCAGATATCAGGAAGGA	0.552																																							uc001ook.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(886-888)ATC>GTC		immunoglobulin mu binding protein 2							112.0	102.0	105.0					11																	68682465		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682465A>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.886A>G	11.37:g.68682465A>G	ENSP00000255078:p.Ile296Val					IGHMBP2_uc001ooj.1_RNA	p.I296V	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	988	+			296			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.886A>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	A	9.720	1.159373	0.21454	.	.	ENSG00000132740	ENST00000255078	D	0.81821	-1.54	3.71	3.71	0.42584	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.060766	0.64402	D	0.000004	T	0.65893	0.2735	N	0.16656	0.425	0.80722	D	1	B	0.31893	0.345	B	0.33392	0.163	T	0.62964	-0.6742	10	0.24483	T	0.36	-24.7896	11.8151	0.52204	1.0:0.0:0.0:0.0	.	296	P38935	SMBP2_HUMAN	V	296	ENSP00000255078:I296V	ENSP00000255078:I296V	I	+	1	0	IGHMBP2	68439041	0.999000	0.42202	0.877000	0.34402	0.164000	0.22412	3.830000	0.55768	1.690000	0.51089	0.454000	0.30748	ATC		0.552	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		19	36	0	0	0	0.014323	0	19	36				
DYNC2H1	79659	broad.mit.edu	37	11	102999641	102999641	+	Silent	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:102999641G>T	ENST00000375735.2	+	13	2004	c.1860G>T	c.(1858-1860)gtG>gtT	p.V620V	DYNC2H1_ENST00000398093.3_Silent_p.V620V|DYNC2H1_ENST00000334267.7_Silent_p.V620V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	620	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V620V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTTGTAGGTGGCACATTTTT	0.254																																							uc001pho.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1858-1860)GTG>GTT		dynein, cytoplasmic 2, heavy chain 1							51.0	50.0	50.0					11																	102999641		1794	4035	5829	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102999641G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1860G>T	11.37:g.102999641G>T						DYNC2H1_uc001phn.1_Silent_p.V620V|DYNC2H1_uc009yxe.1_Silent_p.V620V	p.V620V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	13	2004	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	620			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.1860G>T	CCDS53701.1																																																																																				0.254	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		21	35	1	0	1.01871e-10	0.008871	1.19982e-10	21	35				
IGSF9B	22997	broad.mit.edu	37	11	133790096	133790096	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:133790096G>C	ENST00000321016.8	-	18	3754	c.3524C>G	c.(3523-3525)cCc>cGc	p.P1175R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1175R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1175	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P631R(1)|p.P1175R(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGGGCCGGGGCTGGGGCTC	0.701																																							uc001qgx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3523-3525)CCC>CGC		immunoglobulin superfamily, member 9B							26.0	31.0	30.0					11																	133790096		1882	4087	5969	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790096G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3524C>G	11.37:g.133790096G>C	ENSP00000317980:p.Pro1175Arg						p.P1175R	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3755	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1175			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3524C>G		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691576	0.48097	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.68903	-0.04;-0.36	4.43	4.43	0.53597	.	0.000000	0.43110	D	0.000619	T	0.50667	0.1629	N	0.14661	0.345	0.35231	D	0.776953	P	0.50617	0.937	B	0.39706	0.307	T	0.69113	-0.5231	10	0.87932	D	0	.	16.8109	0.85718	0.0:0.0:1.0:0.0	.	1175	Q9UPX0	TUTLB_HUMAN	R	1175;1017	ENSP00000317980:P1175R;ENSP00000436552:P1017R	ENSP00000317980:P1175R	P	-	2	0	IGSF9B	133295306	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.870000	0.92336	2.293000	0.77203	0.305000	0.20034	CCC		0.701	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		12	59	0	0	0	0.003163	0	12	59				
ARID2	196528	broad.mit.edu	37	12	46231201	46231201	+	Splice_Site	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr12:46231201G>A	ENST00000334344.6	+	9	1292		c.e9+1		ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAGATGAGAGGTGAGTTTTCA	0.308			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Unknown(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.e9+1		AT rich interactive domain 2 (ARID, RFX-like)							66.0	71.0	69.0					12																	46231201		2202	4297	6499	SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231201G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1120+1G>A	12.37:g.46231201G>A						ARID2_uc001ror.2_Splice_Site_p.G374_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.G20_splice|ARID2_uc001rot.1_Splice_Site_p.G20_splice	p.G374_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	9	1120	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	37	c.1120_splice	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234615	0.58886	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.024	0.92925	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44517468	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.476000	0.97823	2.486000	0.83907	0.313000	0.20887	.		0.308	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Intron	22	32	0	0	0	0.014323	0	22	32				
NFATC4	4776	broad.mit.edu	37	14	24839714	24839714	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:24839714G>A	ENST00000250373.4	+	2	1251	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	NFATC4_ENST00000553469.1_Silent_p.K402K|NFATC4_ENST00000556169.1_Silent_p.K358K|NFATC4_ENST00000553879.1_Silent_p.K300K|NFATC4_ENST00000554966.1_Silent_p.K383K|NFATC4_ENST00000554591.1_Silent_p.K433K|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555453.1_Silent_p.K358K|NFATC4_ENST00000422617.3_Silent_p.K358K|NFATC4_ENST00000413692.2_Silent_p.K433K|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000424781.2_Silent_p.K383K|NFATC4_ENST00000555590.1_Silent_p.K383K|NFATC4_ENST00000539237.2_Silent_p.K402K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Silent_p.K300K|NFATC4_ENST00000557451.1_Silent_p.K300K|NFATC4_ENST00000556279.1_Silent_p.K402K|NFATC4_ENST00000554050.1_Silent_p.K370K|NFATC4_ENST00000553708.1_Silent_p.K370K|NFATC4_ENST00000554344.1_Silent_p.K300K	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	370					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)	p.K370K(1)|p.K433K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTTCCCGGAAGGAGGTGGCTG	0.642																																							uc001wpc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1108-1110)AAG>AAA		nuclear factor of activated T-cells,							47.0	42.0	44.0					14																	24839714		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839714G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1110G>A	14.37:g.24839714G>A						NFATC4_uc010tok.1_Silent_p.K433K|NFATC4_uc010tol.1_Silent_p.K433K|NFATC4_uc010alr.2_Silent_p.K433K|NFATC4_uc010als.2_Silent_p.K383K|NFATC4_uc010tom.1_Silent_p.K383K|NFATC4_uc010ton.1_Silent_p.K383K|NFATC4_uc010too.1_Silent_p.K383K|NFATC4_uc010alt.2_Silent_p.K402K|NFATC4_uc010top.1_Silent_p.K402K|NFATC4_uc010toq.1_Silent_p.K402K|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Silent_p.K370K|NFATC4_uc010tos.1_Silent_p.K300K|NFATC4_uc010tot.1_Silent_p.K358K|NFATC4_uc010tou.1_Silent_p.K300K|NFATC4_uc010tov.1_Silent_p.K358K|NFATC4_uc010tow.1_Silent_p.K300K|NFATC4_uc010alv.2_Silent_p.K358K|NFATC4_uc010tox.1_Silent_p.K300K|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	p.K370K	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1431	+			370					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.1110G>A	CCDS9629.1																																																																																				0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		10	61	0	0	0	0.010729	0	10	61				
NFATC4	4776	broad.mit.edu	37	14	24839725	24839725	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:24839725G>A	ENST00000250373.4	+	2	1262	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	NFATC4_ENST00000553469.1_Missense_Mutation_p.G406D|NFATC4_ENST00000556169.1_Missense_Mutation_p.G362D|NFATC4_ENST00000553879.1_Missense_Mutation_p.G304D|NFATC4_ENST00000554966.1_Missense_Mutation_p.G387D|NFATC4_ENST00000554591.1_Missense_Mutation_p.G437D|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.G362D|NFATC4_ENST00000422617.3_Missense_Mutation_p.G362D|NFATC4_ENST00000413692.2_Missense_Mutation_p.G437D|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000424781.2_Missense_Mutation_p.G387D|NFATC4_ENST00000555590.1_Missense_Mutation_p.G387D|NFATC4_ENST00000539237.2_Missense_Mutation_p.G406D|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Missense_Mutation_p.G304D|NFATC4_ENST00000557451.1_Missense_Mutation_p.G304D|NFATC4_ENST00000556279.1_Missense_Mutation_p.G406D|NFATC4_ENST00000554050.1_Missense_Mutation_p.G374D|NFATC4_ENST00000553708.1_Missense_Mutation_p.G374D|NFATC4_ENST00000554344.1_Missense_Mutation_p.G304D	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	374					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)	p.G437D(1)|p.G374D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GAGGTGGCTGGCATGGACTAC	0.642																																							uc001wpc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1120-1122)GGC>GAC		nuclear factor of activated T-cells,							49.0	44.0	46.0					14																	24839725		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839725G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1121G>A	14.37:g.24839725G>A	ENSP00000250373:p.Gly374Asp					NFATC4_uc010tok.1_Missense_Mutation_p.G437D|NFATC4_uc010tol.1_Missense_Mutation_p.G437D|NFATC4_uc010alr.2_Missense_Mutation_p.G437D|NFATC4_uc010als.2_Missense_Mutation_p.G387D|NFATC4_uc010tom.1_Missense_Mutation_p.G387D|NFATC4_uc010ton.1_Missense_Mutation_p.G387D|NFATC4_uc010too.1_Missense_Mutation_p.G387D|NFATC4_uc010alt.2_Missense_Mutation_p.G406D|NFATC4_uc010top.1_Missense_Mutation_p.G406D|NFATC4_uc010toq.1_Missense_Mutation_p.G406D|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.G374D|NFATC4_uc010tos.1_Missense_Mutation_p.G304D|NFATC4_uc010tot.1_Missense_Mutation_p.G362D|NFATC4_uc010tou.1_Missense_Mutation_p.G304D|NFATC4_uc010tov.1_Missense_Mutation_p.G362D|NFATC4_uc010tow.1_Missense_Mutation_p.G304D|NFATC4_uc010alv.2_Missense_Mutation_p.G362D|NFATC4_uc010tox.1_Missense_Mutation_p.G304D|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	p.G374D	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1442	+			374					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1121G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386438	0.61956	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.12672	2.98;3.04;2.98;3.07;3.02;2.99;2.98;3.06;3.08;3.01;3.02;2.69;2.69;2.76;2.75;2.7;2.67;2.66	4.58	4.58	0.56647	.	0.128805	0.49916	D	0.000134	T	0.31040	0.0784	L	0.54323	1.7	0.80722	D	1	P;B;D;B;D;P;B;P;P;P;P;P;D;P	0.67145	0.904;0.215;0.996;0.413;0.996;0.954;0.215;0.836;0.836;0.498;0.954;0.747;0.996;0.923	B;B;D;B;D;P;B;B;B;B;P;B;D;P	0.69142	0.369;0.24;0.962;0.319;0.962;0.804;0.24;0.319;0.44;0.24;0.804;0.255;0.962;0.558	T	0.00907	-1.1519	10	0.48119	T	0.1	-3.5001	15.2442	0.73493	0.0:0.0:1.0:0.0	.	362;362;406;406;387;387;387;437;437;362;406;351;437;374	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	D	437;437;387;387;387;406;406;406;374;374;374;304;304;304;362;304;362;362	ENSP00000388910:G437D;ENSP00000452039:G437D;ENSP00000451224:G387D;ENSP00000450644:G387D;ENSP00000388668:G387D;ENSP00000439350:G406D;ENSP00000452270:G406D;ENSP00000451502:G406D;ENSP00000451151:G374D;ENSP00000250373:G374D;ENSP00000450590:G374D;ENSP00000452349:G304D;ENSP00000450469:G304D;ENSP00000450733:G304D;ENSP00000451454:G362D;ENSP00000451284:G304D;ENSP00000396788:G362D;ENSP00000450686:G362D	ENSP00000250373:G374D	G	+	2	0	NFATC4	23909565	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	2.732000	0.47352	2.531000	0.85337	0.591000	0.81541	GGC		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		11	63	0	0	0	0.013537	0	11	63				
FAM179B	23116	broad.mit.edu	37	14	45431925	45431925	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:45431925C>G	ENST00000361577.3	+	1	515	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	FAM179B_ENST00000382233.2_Missense_Mutation_p.Q101E|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q101E	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	101								p.Q101E(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGGCTCCTTCAACTCCTCCG	0.642																																							uc001wvv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(301-303)CAA>GAA		hypothetical protein LOC23116							54.0	57.0	56.0					14																	45431925		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45431925C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.301C>G	14.37:g.45431925C>G	ENSP00000355045:p.Gln101Glu					FAM179B_uc001wvw.2_Missense_Mutation_p.Q101E|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.Q101E|FAM179B_uc001wvu.2_Missense_Mutation_p.Q101E	p.Q101E	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	510	+			101					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.301C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383466	0.61845	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.53423	0.62;0.62;0.62	4.88	4.88	0.63580	.	0.000000	0.44285	D	0.000475	T	0.51041	0.1651	N	0.24115	0.695	0.29614	N	0.846691	P;P;P;P	0.48911	0.917;0.917;0.917;0.917	P;P;P;P	0.60682	0.878;0.878;0.878;0.878	T	0.50625	-0.8806	10	0.54805	T	0.06	-3.8144	13.4039	0.60900	0.0:1.0:0.0:0.0	.	101;101;101;101	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	E	101	ENSP00000355045:Q101E;ENSP00000354917:Q101E;ENSP00000371668:Q101E	ENSP00000354917:Q101E	Q	+	1	0	FAM179B	44501675	0.980000	0.34600	0.943000	0.38184	0.935000	0.57460	3.252000	0.51461	2.526000	0.85167	0.655000	0.94253	CAA		0.642	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		50	76	0	0	0	0.01441	0	50	76				
ITPKA	3706	broad.mit.edu	37	15	41793911	41793911	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:41793911T>G	ENST00000260386.5	+	3	718	c.665T>G	c.(664-666)cTg>cGg	p.L222R		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	222					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L222R(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGGCGCGGCTGATGGCTGAC	0.692																																							uc001znz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CTG>CGG		1D-myo-inositol-trisphosphate 3-kinase A							18.0	20.0	19.0					15																	41793911		2200	4297	6497	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41793911T>G	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.665T>G	15.37:g.41793911T>G	ENSP00000260386:p.Leu222Arg						p.L222R	NM_002220	NP_002211	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	676	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	222					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.665T>G	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821051	0.90873	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.19394	2.15;2.15	5.14	5.14	0.70334	.	0.067575	0.64402	D	0.000009	T	0.47210	0.1433	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.52616	-0.8552	10	0.87932	D	0	13.1192	14.9568	0.71120	0.0:0.0:0.0:1.0	.	222	P23677	IP3KA_HUMAN	R	117;222	ENSP00000396560:L117R;ENSP00000260386:L222R	ENSP00000260386:L222R	L	+	2	0	ITPKA	39581203	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.029000	0.88807	1.942000	0.56320	0.379000	0.24179	CTG		0.692	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		3	16	0	0	0	0.004672	0	3	16				
SKOR1	390598	broad.mit.edu	37	15	68125572	68125572	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:68125572A>G	ENST00000380035.2	+	8	2838	c.2780A>G	c.(2779-2781)tAt>tGt	p.Y927C	SKOR1_ENST00000389002.1_Missense_Mutation_p.Y883C|SKOR1_ENST00000554240.1_Missense_Mutation_p.Y888C|RP11-34F13.3_ENST00000558889.1_RNA|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.Y830C|SKOR1_ENST00000554054.1_Missense_Mutation_p.Y899C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	927					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.Y883C(1)|p.Y927C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AAGGCGCGCTATGCCATCCAG	0.587																																							uc002aqy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2647-2649)TAT>TGT		transcriptional corepressor Corl1							57.0	54.0	55.0					15																	68125572		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68125572A>G		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2780A>G	15.37:g.68125572A>G	ENSP00000369374:p.Tyr927Cys						p.Y883C	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			9	2648	+			927					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.2648A>G		.	.	.	.	.	.	.	.	.	.	A	15.34	2.804285	0.50315	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.74315	-0.83;-0.82;-0.83;-0.83;-0.83	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.53981	0.1830	N	0.08118	0	0.38757	D	0.95423	P	0.38677	0.642	B	0.31191	0.125	T	0.66168	-0.5991	10	0.66056	D	0.02	-16.2331	15.2841	0.73814	1.0:0.0:0.0:0.0	.	883	P84550-3	.	C	830;888;899;927;883	ENSP00000343200:Y830C;ENSP00000451193:Y888C;ENSP00000452361:Y899C;ENSP00000369374:Y927C;ENSP00000373654:Y883C	ENSP00000343200:Y830C	Y	+	2	0	SKOR1	65912626	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	7.552000	0.82192	2.146000	0.66826	0.379000	0.24179	TAT		0.587	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		13	19	0	0	0	0.004007	0	13	19				
NEIL1	79661	broad.mit.edu	37	15	75646183	75646183	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:75646183G>A	ENST00000564784.1	+	7	1451	c.822G>A	c.(820-822)cgG>cgA	p.R274R	NEIL1_ENST00000355059.4_Silent_p.R274R|NEIL1_ENST00000569035.1_Silent_p.R274R|RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	274					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCAGGACCGGCATGGCCGTA	0.617								Base excision repair (BER), DNA glycosylases																															uc002bad.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(820-822)CGG>CGA	BER_DNA_glycosylases	nei endonuclease VIII-like 1							82.0	86.0	85.0					15																	75646183		2197	4294	6491	SO:0001819	synonymous_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75646183G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.822G>A	15.37:g.75646183G>A						NEIL1_uc002bae.2_Silent_p.R360R|MIR631_hsa-mir-631|MI0003645_5'Flank	p.R274R	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			6	1328	+			274					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	c.822G>A	CCDS10278.1																																																																																				0.617	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		4	129	0	0	0	0.000602	0	4	129				
AKAP13	11214	broad.mit.edu	37	15	86286756	86286756	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:86286756C>G	ENST00000394518.2	+	36	8187	c.8092C>G	c.(8092-8094)Cca>Gca	p.P2698A	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2702A|AKAP13_ENST00000394510.2_Missense_Mutation_p.P943A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2698	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.P2702A(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGAGGATCCCATCGTTCTT	0.502																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(8092-8094)CCA>GCA		A-kinase anchor protein 13 isoform 2							99.0	106.0	104.0					15																	86286756		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86286756C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8092C>G	15.37:g.86286756C>G	ENSP00000378026:p.Pro2698Ala					AKAP13_uc002blu.1_Missense_Mutation_p.P2702A|AKAP13_uc002blw.1_Missense_Mutation_p.P1163A|AKAP13_uc002blx.1_Missense_Mutation_p.P943A	p.P2698A	NM_007200	NP_009131	Q12802	AKP13_HUMAN			36	8262	+			2698			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.8092C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820946	0.71028	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.46819	0.86;0.86;0.86	5.73	5.73	0.89815	.	.	.	.	.	T	0.64000	0.2559	L	0.59436	1.845	0.39982	D	0.974924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.59669	-0.7411	9	0.27785	T	0.31	.	15.4134	0.74945	0.0:1.0:0.0:0.0	.	2698;2702	Q12802;Q12802-2	AKP13_HUMAN;.	A	2702;2698;2701;2677;943	ENSP00000354718:P2702A;ENSP00000378026:P2698A;ENSP00000378018:P943A	ENSP00000354718:P2702A	P	+	1	0	AKAP13	84087760	0.998000	0.40836	1.000000	0.80357	0.762000	0.43233	2.376000	0.44292	2.721000	0.93114	0.655000	0.94253	CCA		0.502	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		10	159	0	0	0	0.010729	0	10	159				
GSE1	23199	broad.mit.edu	37	16	85704643	85704643	+	Missense_Mutation	SNP	G	G	A	rs2303203	byFrequency	TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:85704643G>A	ENST00000253458.7	+	15	3634	c.3458G>A	c.(3457-3459)cGa>cAa	p.R1153Q	GSE1_ENST00000405402.2_Missense_Mutation_p.R1049Q|GSE1_ENST00000393243.1_Missense_Mutation_p.R1080Q	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1153			R -> Q (in dbSNP:rs2303203).					p.R1153Q(1)									CAATGTAGACGACTGGAGGCC	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		15323	0.002		0.0	False		,,,				2504	0.0						uc002fix.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(3457-3459)CGA>CAA		genetic suppressor element 1 isoform 1							68.0	71.0	70.0					16																	85704643		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85704643G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3458G>A	16.37:g.85704643G>A	ENSP00000253458:p.Arg1153Gln					KIAA0182_uc002fiw.2_Missense_Mutation_p.R1049Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R1080Q|KIAA0182_uc002fiz.2_Missense_Mutation_p.R295Q|KIAA0182_uc010cho.2_Missense_Mutation_p.R333Q	p.R1153Q	NM_014615	NP_055430	Q14687	GSE1_HUMAN			15	3532	+			1153			Potential.		D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.3458G>A	CCDS10952.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	31|31	5.072546|5.072546	0.93950|0.93950	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692;ENST00000438180|ENST00000405402;ENST00000253458;ENST00000393243	.|T;T;T	.|0.30714	.|1.52;1.52;1.52	6.03|6.03	5.08|5.08	0.68730|0.68730	.|.	.|0.055178	.|0.64402	.|D	.|0.000001	T|T	0.50222|0.50222	0.1603|0.1603	L|L	0.52364|0.52364	1.645|1.645	0.43583|0.43583	D|D	0.99592|0.99592	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.80764	.|0.994;0.984;0.984;0.964	T|T	0.52563|0.52563	-0.8559|-0.8559	5|10	.|0.72032	.|D	.|0.01	-21.3727|-21.3727	15.3782|15.3782	0.74630|0.74630	0.0664:0.0:0.9336:0.0|0.0664:0.0:0.9336:0.0	rs2303203;rs52809102;rs2303203|rs2303203;rs52809102;rs2303203	.|916;1049;1080;1153	.|Q59GZ0;Q14687-2;Q14687-3;Q14687	.|.;.;.;GSE1_HUMAN	N|Q	922;355|1049;1153;1080	.|ENSP00000384839:R1049Q;ENSP00000253458:R1153Q;ENSP00000376934:R1080Q	.|ENSP00000253458:R1153Q	D|R	+|+	1|2	0|0	KIAA0182|KIAA0182	84262144|84262144	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.960000|0.960000	0.62799|0.62799	7.453000|7.453000	0.80700|0.80700	1.573000|1.573000	0.49748|0.49748	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		23	36	0	0	0	0.003954	0	23	36				
AIPL1	23746	broad.mit.edu	37	17	6328905	6328905	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:6328905C>T	ENST00000381129.3	-	6	1110	c.1030G>A	c.(1030-1032)Gca>Aca	p.A344T	AIPL1_ENST00000576776.1_Missense_Mutation_p.A320T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A284T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A322T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A332T|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Missense_Mutation_p.A281T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	344					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.A344T(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		gatgactgtgcgggtggctct	0.692																																							uc002gcp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)GCA>ACA		aryl hydrocarbon receptor interacting							91.0	81.0	84.0					17																	6328905		2203	4299	6502	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6328905C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.1030G>A	17.37:g.6328905C>T	ENSP00000370521:p.Ala344Thr					AIPL1_uc002gcq.2_Missense_Mutation_p.A284T|AIPL1_uc002gcr.2_Missense_Mutation_p.A281T|AIPL1_uc010clk.2_Missense_Mutation_p.A322T|AIPL1_uc010cll.2_Missense_Mutation_p.A320T|AIPL1_uc002gcs.2_3'UTR	p.A344T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	1125	-			344					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.1030G>A	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323127	0.24080	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	D;D	0.88818	-2.43;-2.32	3.3	-0.562	0.11781	.	18.596700	0.00780	N	0.001269	T	0.67692	0.2920	N	0.02539	-0.55	0.09310	N	1	P;B;P;P;B	0.40197	0.581;0.428;0.706;0.706;0.428	B;B;B;B;B	0.19946	0.006;0.006;0.027;0.013;0.006	T	0.66834	-0.5823	10	0.22109	T	0.4	.	6.4041	0.21654	0.1813:0.4386:0.3801:0.0	.	320;322;281;284;344	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	T	344;284;281	ENSP00000370521:A344T;ENSP00000250087:A281T	ENSP00000250087:A281T	A	-	1	0	AIPL1	6269629	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.175000	0.16762	-0.347000	0.08299	0.456000	0.33151	GCA		0.692	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		56	102	0	0	0	0.01441	0	56	102				
NSRP1	84081	broad.mit.edu	37	17	28511752	28511752	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:28511752C>T	ENST00000247026.5	+	7	800	c.737C>T	c.(736-738)gCa>gTa	p.A246V	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	246					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.A246V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AACCCAGATGCAGACAGTGAC	0.413																																							uc002heu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GCA>GTA		coiled-coil domain containing 55 isoform 1							73.0	70.0	71.0					17																	28511752		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511752C>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.737C>T	17.37:g.28511752C>T	ENSP00000247026:p.Ala246Val					CCDC55_uc002hev.2_Missense_Mutation_p.A192V|CCDC55_uc010wbl.1_Missense_Mutation_p.A192V|CCDC55_uc010wbm.1_Missense_Mutation_p.A192V|CCDC55_uc002hex.2_Missense_Mutation_p.A192V	p.A246V	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			7	765	+			246					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.737C>T	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070035	0.55539	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.50001	0.76	6.06	5.08	0.68730	.	0.113583	0.64402	D	0.000008	T	0.48059	0.1479	M	0.69823	2.125	0.80722	D	1	B	0.22541	0.071	B	0.22386	0.039	T	0.42344	-0.9457	10	0.27785	T	0.31	-6.4304	14.1524	0.65395	0.15:0.85:0.0:0.0	.	246	Q9H0G5	NSRP1_HUMAN	V	246;177;192	ENSP00000247026:A246V	ENSP00000247026:A246V	A	+	2	0	NSRP1	25535878	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	3.046000	0.49846	1.548000	0.49413	0.650000	0.86243	GCA		0.413	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		34	59	0	0	0	0.003755	0	34	59				
ARHGAP27	201176	broad.mit.edu	37	17	43473891	43473891	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:43473891C>A	ENST00000428638.1	-	13	2134	c.2135G>T	c.(2134-2136)cGc>cTc	p.R712L	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R371L|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R490L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R690L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R344L|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R685L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R371L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	712	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.R371L(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CTGCACGAAGCGTGGCACCCG	0.731																																							uc002iix.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)CGC>CTC		Rho GTPase activating protein 27 isoform a							8.0	11.0	10.0					17																	43473891		2155	4162	6317	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43473891C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2135G>T	17.37:g.43473891C>A	ENSP00000403323:p.Arg712Leu					ARHGAP27_uc010dak.2_Missense_Mutation_p.R344L	p.R371L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN			13	1561	-	Renal(3;0.0405)		712			Rho-GAP.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1112G>T		.	.	.	.	.	.	.	.	.	.	C	11.75	1.732797	0.30684	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.05	4.05	0.47172	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.442914	0.24231	N	0.040360	T	0.10035	0.0246	N	0.16790	0.44	0.80722	D	1	B;B	0.30526	0.242;0.283	B;B	0.30782	0.083;0.12	T	0.13602	-1.0503	10	0.40728	T	0.16	.	7.8265	0.29318	0.0:0.8865:0.0:0.1135	.	685;712	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	L	490;371;344;690;712;685;371	ENSP00000432762:R490L;ENSP00000366121:R371L;ENSP00000431591:R344L;ENSP00000433942:R690L;ENSP00000403323:R712L;ENSP00000409330:R685L;ENSP00000408235:R371L	ENSP00000366121:R371L	R	-	2	0	ARHGAP27	40829674	0.004000	0.15560	1.000000	0.80357	0.275000	0.26752	-0.142000	0.10311	2.256000	0.74724	0.305000	0.20034	CGC		0.731	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		7	11	1	0	0.000157383	0.00308	0.000173777	7	11				
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	rs377217606		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:61958402G>A	ENST00000423893.2	-	3	339	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M|GH2_ENST00000332800.7_Missense_Mutation_p.T93M			P01242	SOM2_HUMAN	growth hormone 2	93					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572																																							uc002jco.1		NA																	6	Substitution - Missense(6)		prostate(2)|lung(2)|breast(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(277-279)ACG>ATG		growth hormone 2 isoform 1		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153.0	160.0	158.0		278,233,278,278	0.3	0.1	17		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GH2	NM_002059.3,NM_022556.2,NM_022557.2,NM_022558.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	93/218,78/203,93/257,93/246	61958402	1,13005	2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958402G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.278C>T	17.37:g.61958402G>A	ENSP00000409294:p.Thr93Met					GH2_uc002jcj.2_Missense_Mutation_p.T93M|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.T93M|GH2_uc002jcm.1_Missense_Mutation_p.T93M|GH2_uc002jcn.1_Missense_Mutation_p.T78M	p.T93M	NM_002059	NP_002050	P01242	SOM2_HUMAN			3	340	-			93					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.278C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	5.894	0.349068	0.11182	0.0	1.16E-4	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.89681	-2.55;-2.55;-2.21;-2.21	2.5	0.343	0.16001	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.336814	0.31438	N	0.007657	D	0.91778	0.7399	M	0.76328	2.33	0.22424	N	0.99911	D;D;D;D;D	0.89917	1.0;1.0;0.988;1.0;1.0	D;D;P;D;D	0.97110	0.983;0.999;0.782;1.0;0.983	T	0.83275	-0.0041	10	0.62326	D	0.03	.	5.8652	0.18771	0.1254:0.1933:0.6813:0.0	.	93;78;93;93;93	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	M	93;93;93;78	ENSP00000333157:T93M;ENSP00000394122:T93M;ENSP00000409294:T93M;ENSP00000410618:T78M	ENSP00000333157:T93M	T	-	2	0	GH2	59312134	1.000000	0.71417	0.140000	0.22221	0.000000	0.00434	3.793000	0.55484	-0.021000	0.14009	-2.069000	0.00389	ACG		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		156	273	0	0	0	0.01441	0	156	273				
CSH1	1442	broad.mit.edu	37	17	61972557	61972557	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:61972557C>A	ENST00000316193.8	-	5	620	c.479G>T	c.(478-480)cGg>cTg	p.R160L	CSH1_ENST00000329882.8_Silent_p.P244P|CSH1_ENST00000453363.3_Missense_Mutation_p.R65L	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R160L(1)		central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTGCCCAGTCCGGCGGCTGCC	0.547									Russell-Silver syndrome																														uc002jcs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(478-480)CGG>CTG		chorionic somatomammotropin hormone 1 isoform 1																																				SO:0001583	missense	1442	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972557C>A	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.479G>T	17.37:g.61972557C>A	ENSP00000316416:p.Arg160Leu					CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.P150P|CSH1_uc002jcq.1_Missense_Mutation_p.R121L|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R126L|CSH1_uc002jcu.1_Silent_p.P244P|CSH1_uc002jcv.1_Missense_Mutation_p.R65L|CSH1_uc002jcw.2_Silent_p.P159P|CSH1_uc002jcy.2_3'UTR	p.R160L	NM_001317	NP_001308	P01243	CSH_HUMAN			5	595	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.479G>T	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	c	9.012	0.982732	0.18889	.	.	ENSG00000136488	ENST00000316193;ENST00000453363	D;D	0.88818	-2.33;-2.43	2.56	2.56	0.30785	.	.	.	.	.	D	0.90222	0.6943	M	0.88570	2.965	0.38418	D	0.946099	B;B	0.15719	0.014;0.003	B;B	0.25614	0.062;0.003	D	0.90778	0.4677	9	0.66056	D	0.02	.	12.0268	0.53375	0.0:1.0:0.0:0.0	.	65;160	B1A4H2;Q6PF11	.;.	L	160;65	ENSP00000316416:R160L;ENSP00000402517:R65L	ENSP00000316416:R160L	R	-	2	0	CSH1	59326289	0.147000	0.22687	0.943000	0.38184	0.028000	0.11728	0.544000	0.23253	1.422000	0.47177	0.313000	0.20887	CGG		0.547	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		57	99	1	0	3.13765e-25	0.01441	4.00712e-25	57	99				
LLGL2	3993	broad.mit.edu	37	17	73566508	73566508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:73566508C>T	ENST00000392550.3	+	16	2071	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	LLGL2_ENST00000577200.1_Nonsense_Mutation_p.Q652*|LLGL2_ENST00000167462.5_Nonsense_Mutation_p.Q652*	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	652					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.Q652*(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCTTGCGTCAGTCATTCCG	0.692																																							uc002joh.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1954-1956)CAG>TAG		lethal giant larvae homolog 2 isoform c							39.0	32.0	34.0					17																	73566508		2198	4295	6493	SO:0001587	stop_gained	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566508C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1954C>T	17.37:g.73566508C>T	ENSP00000376333:p.Gln652*					LLGL2_uc002joi.2_Nonsense_Mutation_p.Q652*|LLGL2_uc010dgg.1_Nonsense_Mutation_p.Q652*|LLGL2_uc002joj.2_Nonsense_Mutation_p.Q641*|LLGL2_uc010wsd.1_Nonsense_Mutation_p.Q279*	p.Q652*	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2108	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		652			WD 10.		Q14521|Q9BR62	Nonsense_Mutation	SNP	ENST00000392550.3	37	c.1954C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	37	6.075976	0.97262	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.9505	18.2389	0.89960	0.0:1.0:0.0:0.0	.	.	.	.	X	652;652;641	.	ENSP00000167462:Q652X	Q	+	1	0	LLGL2	71078103	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	7.766000	0.85320	2.314000	0.78098	0.549000	0.68633	CAG		0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		6	13	0	0	0	0.00308	0	6	13				
FBN3	84467	broad.mit.edu	37	19	8191468	8191468	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:8191468C>A	ENST00000600128.1	-	20	2852	c.2438G>T	c.(2437-2439)tGg>tTg	p.W813L	FBN3_ENST00000270509.2_Missense_Mutation_p.W813L|FBN3_ENST00000601739.1_Missense_Mutation_p.W813L			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.W813L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTTCAGCCAGCAGGTGCC	0.677																																							uc002mjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2437-2439)TGG>TTG		fibrillin 3 precursor							37.0	35.0	36.0					19																	8191468		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191468C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2438G>T	19.37:g.8191468C>A	ENSP00000470498:p.Trp813Leu						p.W813L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			19	2459	-			813			TB 4.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2438G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.794980	0.90453	.	.	ENSG00000142449	ENST00000270509	D	0.91068	-2.78	3.79	3.79	0.43588	Matrix fibril-associated (2);TGF-beta binding (1);	0.073068	0.64402	N	0.000011	D	0.95500	0.8538	M	0.86502	2.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95547	0.8617	10	0.44086	T	0.13	.	15.6525	0.77108	0.0:1.0:0.0:0.0	.	813	Q75N90	FBN3_HUMAN	L	813	ENSP00000270509:W813L	ENSP00000270509:W813L	W	-	2	0	FBN3	8097468	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	7.039000	0.76544	1.677000	0.50941	0.491000	0.48974	TGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		21	43	1	0	6.44725e-10	0.014323	7.50999e-10	21	43				
MUC16	94025	broad.mit.edu	37	19	9073701	9073701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:9073701G>T	ENST00000397910.4	-	3	13948	c.13745C>A	c.(13744-13746)tCa>tAa	p.S4582*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4584	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.S4582L(2)|p.S4582*(2)|p.S215*(1)|p.S215L(1)		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						ACCAGGTATTGATATAGAAGC	0.517																																							uc002mkp.2		NA																	6	Substitution - Missense(3)|Substitution - Nonsense(3)		NS(3)|lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13744-13746)TCA>TAA		mucin 16							98.0	92.0	94.0					19																	9073701		2057	4190	6247	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073701G>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.13745C>A	19.37:g.9073701G>T	ENSP00000381008:p.Ser4582*						p.S4582*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13949	-			4584			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.13745C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	54	23.226274	0.99953	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.75	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9651	0.24619	0.0:0.0:1.0:0.0	.	.	.	.	X	4582	.	ENSP00000381008:S4582X	S	-	2	0	MUC16	8934701	0.009000	0.17119	0.007000	0.13788	0.005000	0.04900	1.519000	0.35888	1.266000	0.44231	0.313000	0.20887	TCA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	62	1	0	7.41877e-09	0.012319	8.45581e-09	17	62				
EPHX3	79852	broad.mit.edu	37	19	15338342	15338342	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:15338342T>C	ENST00000221730.3	-	7	1209	c.989A>G	c.(988-990)cAc>cGc	p.H330R	EPHX3_ENST00000602233.1_Missense_Mutation_p.H330R|EPHX3_ENST00000435261.1_Missense_Mutation_p.H330R	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	330						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.H330R(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TGGCAGGATGTGGGCCTCCAA	0.612																																							uc002nap.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(988-990)CAC>CGC		abhydrolase domain containing 9 precursor							67.0	62.0	64.0					19																	15338342		2203	4300	6503	SO:0001583	missense	79852					extracellular region	hydrolase activity	g.chr19:15338342T>C	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.989A>G	19.37:g.15338342T>C	ENSP00000221730:p.His330Arg					EPHX3_uc002naq.2_Missense_Mutation_p.H330R	p.H330R	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			7	1198	-			330					A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	c.989A>G	CCDS12327.1	.	.	.	.	.	.	.	.	.	.	T	6.473	0.455489	0.12283	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.68624	-0.34;-0.34	4.63	1.2	0.21068	.	0.443764	0.20934	N	0.083059	T	0.41627	0.1167	N	0.20610	0.595	0.30803	N	0.739677	B	0.15930	0.015	B	0.15052	0.012	T	0.20840	-1.0263	10	0.14656	T	0.56	-15.9317	3.9687	0.09443	0.0:0.2006:0.1828:0.6166	.	330	Q9H6B9	EPHX3_HUMAN	R	330	ENSP00000221730:H330R;ENSP00000410323:H330R	ENSP00000221730:H330R	H	-	2	0	EPHX3	15199342	1.000000	0.71417	0.666000	0.29783	0.506000	0.33950	1.323000	0.33701	0.278000	0.22164	0.449000	0.29647	CAC		0.612	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		31	41	0	0	0	0.003755	0	31	41				
HKR1	284459	broad.mit.edu	37	19	37853120	37853120	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:37853120T>G	ENST00000324411.4	+	6	692	c.423T>G	c.(421-423)agT>agG	p.S141R	HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000586897.1_3'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.S122R|HKR1_ENST00000541583.2_Missense_Mutation_p.S80R|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.S123R|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	141					multicellular organismal development (GO:0007275)|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.S141R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTTTCAAGTTTATGGGCAG	0.463																																							uc002ogb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(421-423)AGT>AGG		GLI-Kruppel family member HKR1							92.0	92.0	92.0					19																	37853120		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853120T>G	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.423T>G	19.37:g.37853120T>G	ENSP00000315505:p.Ser141Arg					HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.S123R|HKR1_uc010xto.1_Missense_Mutation_p.S123R|HKR1_uc002ogc.2_Missense_Mutation_p.S122R|HKR1_uc010xtp.1_Missense_Mutation_p.S80R|HKR1_uc002ogd.2_Missense_Mutation_p.S80R	p.S141R	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	692	+			141					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.423T>G	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087427	0.36855	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.06218	3.48;3.44;3.33	2.71	0.587	0.17439	.	.	.	.	.	T	0.04543	0.0124	N	0.01874	-0.695	0.48087	D	0.999589	D;B;D;D	0.69078	0.997;0.087;0.997;0.997	D;B;D;D	0.63488	0.915;0.134;0.915;0.915	T	0.54931	-0.8219	9	0.16420	T	0.52	-12.6783	6.0056	0.19544	0.0:0.2496:0.0:0.7504	.	80;122;141;123	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	R	80;122;177;141;80	ENSP00000375994:S122R;ENSP00000315505:S141R;ENSP00000438261:S80R	ENSP00000315505:S141R	S	+	3	2	HKR1	42544960	0.000000	0.05858	0.167000	0.22817	0.979000	0.70002	0.126000	0.15769	0.048000	0.15891	-0.296000	0.09543	AGT		0.463	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		64	107	0	0	0	0.01441	0	64	107				
PSG1	5669	broad.mit.edu	37	19	43382252	43382252	+	Silent	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:43382252T>C	ENST00000436291.2	-	2	359	c.243A>G	c.(241-243)tcA>tcG	p.S81S	PSG1_ENST00000595356.1_Silent_p.S81S|PSG1_ENST00000403380.3_Silent_p.S81S|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Silent_p.S81S|PSG1_ENST00000312439.6_Silent_p.S81S|PSG1_ENST00000595124.1_Silent_p.S81S	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	81	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S81S(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTACTACATATGATGTAATGT	0.443																																							uc002ovb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(241-243)TCA>TCG		pregnancy specific beta-1-glycoprotein 1							241.0	236.0	238.0					19																	43382252		2202	4299	6501	SO:0001819	synonymous_variant	5669				female pregnancy	extracellular region		g.chr19:43382252T>C		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.243A>G	19.37:g.43382252T>C						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.S81S|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.S81S|PSG1_uc010eio.1_Silent_p.S81S|PSG1_uc002oux.1_Silent_p.S10S|PSG1_uc002ouy.1_Silent_p.S81S|PSG1_uc002ouz.1_Silent_p.S81S|PSG1_uc002ova.1_Silent_p.S81S|PSG1_uc002ovc.2_Silent_p.S81S|PSG1_uc002ovd.1_Silent_p.S81S	p.S81S	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	381	-		Prostate(69;0.00682)	81			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.243A>G	CCDS54275.1																																																																																				0.443	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			221	337	0	0	0	0.01441	0	221	337				
SHANK1	50944	broad.mit.edu	37	19	51165489	51165489	+	Silent	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:51165489C>T	ENST00000293441.1	-	23	6237	c.6219G>A	c.(6217-6219)tcG>tcA	p.S2073S	SHANK1_ENST00000391813.1_Silent_p.S1460S|SHANK1_ENST00000391814.1_Silent_p.S2081S|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.S2064S|SHANK1_ENST00000483981.2_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2073					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.S2073S(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGAGGGAGCGCGAGGCCCCTG	0.687																																							uc002psx.1		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	large_intestine(2)	2						c.(6217-6219)TCG>TCA		SH3 and multiple ankyrin repeat domains 1							28.0	29.0	29.0					19																	51165489		2203	4299	6502	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165489C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6219G>A	19.37:g.51165489C>T						SHANK1_uc002psw.1_Silent_p.S1457S	p.S2073S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6238	-		all_neural(266;0.057)	2073					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.6219G>A	CCDS12799.1																																																																																				0.687	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	34	0	0	0	0.004482	0	6	34				
KLK15	55554	broad.mit.edu	37	19	51330321	51330321	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:51330321G>A	ENST00000598239.1	-	3	324	c.294C>T	c.(292-294)taC>taT	p.Y98Y	KLK15_ENST00000416184.1_Silent_p.Y98Y|KLK15_ENST00000596931.1_Silent_p.Y97Y|KLK15_ENST00000326856.4_Silent_p.Y97Y|KLK15_ENST00000301421.2_Silent_p.Y98Y	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y98Y(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCGCGCTTCGTAGCGCGGGT	0.662																																					Pancreas(140;10 2513 7143 9246)	Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	lung(1)|breast(1)	2						c.(292-294)TAC>TAT		kallikrein-related peptidase 15 isoform 4							67.0	59.0	62.0					19																	51330321		2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330321G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.294C>T	19.37:g.51330321G>A						KLK15_uc002ptm.2_Silent_p.Y98Y|KLK15_uc002ptn.2_Silent_p.Y98Y|KLK15_uc002pto.2_Silent_p.Y97Y|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.Y97Y|KLK15_uc010eod.2_RNA	p.Y98Y	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	325	-		all_neural(266;0.057)	98			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.294C>T	CCDS12805.1																																																																																				0.662	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		42	63	0	0	0	0.01441	0	42	63				
ZNF614	80110	broad.mit.edu	37	19	52519939	52519939	+	Silent	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:52519939A>C	ENST00000270649.6	-	5	1456	c.912T>G	c.(910-912)gcT>gcG	p.A304A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	304					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.A304A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTCGCTGATGAGCAATTAGAT	0.403																																							uc002pyj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(910-912)GCT>GCG		zinc finger protein 614							126.0	113.0	117.0					19																	52519939		2203	4300	6503	SO:0001819	synonymous_variant	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519939A>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.912T>G	19.37:g.52519939A>C						ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Silent_p.A7A	p.A304A	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1314	-		all_neural(266;0.0505)	304			C2H2-type 3.		Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	c.912T>G	CCDS12847.1																																																																																				0.403	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		19	170	0	0	0	0.006122	0	19	170				
PEG3	5178	broad.mit.edu	37	19	57327010	57327010	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:57327010T>A	ENST00000326441.9	-	10	3163	c.2800A>T	c.(2800-2802)Aag>Tag	p.K934*	PEG3_ENST00000593695.1_Nonsense_Mutation_p.K808*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.K934*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.K810*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	934					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K934*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCACGAGCCTTCTGGTATTCA	0.463																																							uc002qnu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2800-2802)AAG>TAG		paternally expressed 3 isoform 1							127.0	126.0	126.0					19																	57327010		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327010T>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2800A>T	19.37:g.57327010T>A	ENSP00000326581:p.Lys934*					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.K905*|PEG3_uc002qnv.2_Nonsense_Mutation_p.K934*|PEG3_uc002qnw.2_Nonsense_Mutation_p.K810*|PEG3_uc002qnx.2_Nonsense_Mutation_p.K808*|PEG3_uc010etr.2_Nonsense_Mutation_p.K934*	p.K934*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3151	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	934					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.2800A>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	42	9.774912	0.99260	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	3.99	3.99	0.46301	.	0.000000	0.49305	D	0.000149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-47.5888	11.5055	0.50463	0.0:0.0:0.0:1.0	.	.	.	.	X	934	.	ENSP00000326581:K934X	K	-	1	0	ZIM2	62018822	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.050000	0.11904	2.053000	0.61076	0.533000	0.62120	AAG		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			66	133	0	0	0	0.01441	0	66	133				
RPS7	6201	broad.mit.edu	37	2	3627799	3627799	+	Silent	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:3627799G>C	ENST00000304921.5	+	6	620	c.456G>C	c.(454-456)cgG>cgC	p.R152R	RPS7_ENST00000406376.1_Silent_p.R152R|RPS7_ENST00000407445.3_Silent_p.R152R|RPS7_ENST00000403564.1_Silent_p.R152R|SNORA73_ENST00000516722.1_RNA	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	152					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R152R(1)		endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		ATGGCAGCCGGCTCATAAAGG	0.483																																							uc002qxw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CGG>CGC		ribosomal protein S7							80.0	78.0	79.0					2																	3627799		2203	4298	6501	SO:0001819	synonymous_variant	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3627799G>C		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.456G>C	2.37:g.3627799G>C						RPS7_uc002qxy.2_RNA	p.R152R	NM_001011	NP_001002	P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	6	562	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		152					P23821|P24818|Q57Z92|Q6IPH1	Silent	SNP	ENST00000304921.5	37	c.456G>C	CCDS1648.1																																																																																				0.483	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1	NM_001011		25	51	0	0	0	0.00632	0	25	51				
WDR35	57539	broad.mit.edu	37	2	20135266	20135266	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:20135266G>A	ENST00000345530.3	-	22	2661	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	WDR35_ENST00000281405.4_Missense_Mutation_p.A838V|WDR35_ENST00000416055.2_Missense_Mutation_p.A414V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	849					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.A849V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTGAAATGGCAAGGTTCTC	0.338																																							uc002rdi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2545-2547)GCC>GTC		WD repeat domain 35 isoform 1							108.0	105.0	106.0					2																	20135266		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20135266G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2546C>T	2.37:g.20135266G>A	ENSP00000314444:p.Ala849Val					WDR35_uc002rdj.2_Missense_Mutation_p.A838V|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.A414V|WDR35_uc002rdk.3_Missense_Mutation_p.A414V	p.A849V	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			22	2654	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		849					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2546C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	5.142	0.211763	0.09757	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.85088	0.01;0.01;-0.55;-1.94	4.85	3.97	0.46021	.	0.293880	0.38111	N	0.001820	T	0.71324	0.3326	N	0.11201	0.11	0.58432	D	0.999999	B;B;B;B	0.16802	0.001;0.003;0.004;0.019	B;B;B;B	0.28465	0.006;0.023;0.006;0.09	T	0.62421	-0.6858	10	0.12103	T	0.63	-4.3198	12.4378	0.55608	0.0821:0.0:0.9179:0.0	.	849;838;849;414	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	V	849;838;414;384	ENSP00000314444:A849V;ENSP00000281405:A838V;ENSP00000399159:A414V;ENSP00000404409:A384V	ENSP00000281405:A838V	A	-	2	0	WDR35	19998747	1.000000	0.71417	0.989000	0.46669	0.553000	0.35397	6.561000	0.73955	1.187000	0.43000	0.491000	0.48974	GCC		0.338	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		22	58	0	0	0	0.00333	0	22	58				
EPT1	85465	broad.mit.edu	37	2	26607932	26607932	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:26607932G>C	ENST00000260585.7	+	8	956	c.837G>C	c.(835-837)tgG>tgC	p.W279C		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	279					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.W279C(1)									GGATCCTTTGGTCACCTTCAG	0.348																																							uc010ykz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)TGG>TGC		selenoprotein I							115.0	106.0	109.0					2																	26607932		1851	4088	5939	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26607932G>C		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.837G>C	2.37:g.26607932G>C	ENSP00000260585:p.Trp279Cys					EPT1_uc010eyl.1_RNA	p.W279C	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN			8	984	+			279					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.837G>C	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379527	0.24944	.	.	ENSG00000138018	ENST00000260585;ENST00000447170	T	0.43294	0.95	5.97	3.15	0.36227	.	0.994106	0.08179	N	0.985747	T	0.30603	0.0770	N	0.14661	0.345	0.48975	D	0.999734	B	0.30741	0.293	B	0.41619	0.361	T	0.32241	-0.9914	10	0.40728	T	0.16	-21.9782	2.0376	0.03543	0.1498:0.1338:0.44:0.2763	.	279	Q9C0D9	EPT1_HUMAN	C	279;155	ENSP00000260585:W279C	ENSP00000260585:W279C	W	+	3	0	EPT1	26461436	0.278000	0.24230	0.713000	0.30519	0.982000	0.71751	0.519000	0.22862	0.828000	0.34709	-0.188000	0.12872	TGG		0.348	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		4	37	0	0	0	0.009096	0	4	37				
CGREF1	10669	broad.mit.edu	37	2	27324165	27324165	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:27324165G>T	ENST00000260595.5	-	7	1175	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K	CGREF1_ENST00000402394.1_Missense_Mutation_p.Q312K|CGREF1_ENST00000312734.4_Missense_Mutation_p.Q312K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.Q434K|CGREF1_ENST00000405600.1_Missense_Mutation_p.Q312K|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	295					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q295K(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCACTTGAACAATGTGC	0.502																																							uc010eys.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)CAA>AAA		cell growth regulator with EF-hand domain 1							161.0	156.0	158.0					2																	27324165		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324165G>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.883C>A	2.37:g.27324165G>T	ENSP00000260595:p.Gln295Lys					CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_Intron|CGREF1_uc002riq.2_Missense_Mutation_p.Q312K|CGREF1_uc010eyr.1_Missense_Mutation_p.Q417K|CGREF1_uc002rir.1_Missense_Mutation_p.Q295K|CGREF1_uc002ris.2_Missense_Mutation_p.F295L	p.Q295K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN			7	1025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		295					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.883C>A		.	.	.	.	.	.	.	.	.	.	G	14.97	2.694670	0.48202	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.85;-1.75	4.89	3.04	0.35103	.	0.350346	0.28754	N	0.014253	T	0.76891	0.4051	.	.	.	0.09310	N	1	B	0.33528	0.416	B	0.29524	0.103	T	0.69038	-0.5251	9	0.87932	D	0	-18.6003	8.3261	0.32158	0.0:0.3256:0.5064:0.168	.	295	Q99674	CGRE1_HUMAN	K	312;312;295;312;434;295	ENSP00000385452:Q312K;ENSP00000386113:Q312K;ENSP00000324025:Q312K;ENSP00000385574:Q434K;ENSP00000260595:Q295K	ENSP00000260595:Q295K	Q	-	1	0	CGREF1	27177669	0.214000	0.23563	0.009000	0.14445	0.052000	0.14988	1.443000	0.35057	0.632000	0.30432	-0.225000	0.12378	CAA		0.502	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		117	221	1	0	1.89039e-43	0.01441	2.53647e-43	117	221				
AMER3	205147	broad.mit.edu	37	2	131519728	131519728	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:131519728C>A	ENST00000423981.1	+	2	193	c.83C>A	c.(82-84)gCt>gAt	p.A28D	AMER3_ENST00000321420.4_Missense_Mutation_p.A28D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	28					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A28D(1)									GCAGCCGTGGCTGCAGCCAGG	0.637																																							uc002trw.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(82-84)GCT>GAT		hypothetical protein LOC205147							16.0	22.0	20.0					2																	131519728		2200	4299	6499	SO:0001583	missense	205147							g.chr2:131519728C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.83C>A	2.37:g.131519728C>A	ENSP00000392700:p.Ala28Asp					FAM123C_uc010fmv.2_Missense_Mutation_p.A28D|FAM123C_uc010fms.1_Missense_Mutation_p.A28D|FAM123C_uc010fmt.1_Missense_Mutation_p.A28D|FAM123C_uc010fmu.1_Missense_Mutation_p.A28D	p.A28D	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	273	+	Colorectal(110;0.1)		28					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.83C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896389	0.17686	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.48836	0.8;0.8	4.87	-1.05	0.10036	.	0.595488	0.14769	N	0.299491	T	0.35364	0.0929	L	0.27053	0.805	0.09310	N	1	D	0.55385	0.971	P	0.50440	0.641	T	0.36089	-0.9762	10	0.13853	T	0.58	.	8.2725	0.31853	0.0:0.4338:0.0:0.5662	.	28	Q8N944	F123C_HUMAN	D	28	ENSP00000314914:A28D;ENSP00000392700:A28D	ENSP00000314914:A28D	A	+	2	0	FAM123C	131236198	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.423000	0.21313	-0.102000	0.12197	0.561000	0.74099	GCT		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		4	8	1	0	0.00909568	0.009096	0.00993961	4	8				
TTN	7273	broad.mit.edu	37	2	179640620	179640620	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:179640620G>T	ENST00000591111.1	-	28	6195	c.5971C>A	c.(5971-5973)Cct>Act	p.P1991T	TTN_ENST00000342175.6_Missense_Mutation_p.P1945T|TTN_ENST00000589042.1_Missense_Mutation_p.P1991T|TTN_ENST00000342992.6_Missense_Mutation_p.P1991T|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1945T|TTN_ENST00000460472.2_Missense_Mutation_p.P1945T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P1991T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P1945T(3)|p.P1991T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTCTTCAGGCACTTTTTCA	0.438																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5971-5973)CCT>ACT		titin isoform N2-A							119.0	126.0	124.0					2																	179640620		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640620G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5971C>A	2.37:g.179640620G>T	ENSP00000465570:p.Pro1991Thr					TTN_uc010zfh.1_Missense_Mutation_p.P1945T|TTN_uc010zfi.1_Missense_Mutation_p.P1945T|TTN_uc010zfj.1_Missense_Mutation_p.P1945T|TTN_uc002unb.2_Missense_Mutation_p.P1991T|uc002unc.1_5'Flank	p.P1991T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6195	-			1991					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5971C>A		.	.	.	.	.	.	.	.	.	.	G	0.324	-0.960259	0.02267	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61859	0.07;0.3;0.28;0.27;0.46	5.12	1.01	0.19927	Ribonuclease H-like (1);	.	.	.	.	T	0.30386	0.0763	N	0.02539	-0.55	0.20307	N	0.999912	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.24548	-1.0157	9	0.87932	D	0	.	8.5508	0.33451	0.7243:0.0:0.2757:0.0	.	1945;1945;1945;1991;1991	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	1991;1945;1945;1945;1945;1991	ENSP00000343764:P1991T;ENSP00000434586:P1945T;ENSP00000340554:P1945T;ENSP00000352154:P1945T;ENSP00000354117:P1991T	ENSP00000340554:P1945T	P	-	1	0	TTN	179348865	0.035000	0.19736	0.253000	0.24343	0.426000	0.31534	0.523000	0.22925	-0.093000	0.12396	-0.466000	0.05196	CCT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	269	1	0	1.42536e-11	0.004656	1.69762e-11	26	269				
BPIFB3	359710	broad.mit.edu	37	20	31651454	31651454	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr20:31651454G>A	ENST00000375494.3	+	6	625	c.625G>A	c.(625-627)Gtg>Atg	p.V209M		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	209	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V209M(1)									GCTGGGTGTGGTGAATGAGCT	0.572																																							uc002wym.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(625-627)GTG>ATG		antimicrobial peptide RYA3 precursor							179.0	138.0	152.0					20																	31651454		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31651454G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.625G>A	20.37:g.31651454G>A	ENSP00000364643:p.Val209Met						p.V209M	NM_182658	NP_872599	P59826	LPLC3_HUMAN			6	625	+			209			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.625G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150230	0.37923	.	.	ENSG00000186190	ENST00000375494	T	0.04654	3.58	4.6	3.65	0.41850	.	0.000000	0.49916	D	0.000129	T	0.08044	0.0201	M	0.75264	2.295	0.25087	N	0.990887	B	0.29085	0.232	B	0.29942	0.109	T	0.14811	-1.0459	10	0.87932	D	0	-8.7072	8.2807	0.31898	0.1081:0.0:0.8919:0.0	.	209	P59826	BPIB3_HUMAN	M	209	ENSP00000364643:V209M	ENSP00000364643:V209M	V	+	1	0	BPIFB3	31115115	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	1.176000	0.31957	1.151000	0.42436	0.561000	0.74099	GTG		0.572	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		54	170	0	0	0	0.01441	0	54	170				
KRTAP19-1	337882	broad.mit.edu	37	21	31852612	31852612	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr21:31852612C>T	ENST00000390689.2	-	1	51	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	9	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)		p.G9R(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCCAGGCCTCCGTAGTAGCTG	0.557																																							uc011acx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GGA>AGA		keratin associated protein 19-1							118.0	118.0	118.0					21																	31852612		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852612C>T	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.25G>A	21.37:g.31852612C>T	ENSP00000375108:p.Gly9Arg						p.G9R	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			1	25	-			9			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.25G>A	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111511	0.20714	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.13901	2.55	4.82	2.02	0.26589	.	0.182956	0.25433	N	0.030705	T	0.12518	0.0304	.	.	.	0.26544	N	0.974035	B	0.26635	0.155	B	0.33392	0.163	T	0.19257	-1.0311	9	0.87932	D	0	.	7.6371	0.28272	0.0:0.7217:0.0:0.2783	.	9	Q8IUB9	KR191_HUMAN	R	9	ENSP00000375108:G9R	ENSP00000375108:G9R	G	-	1	0	KRTAP19-1	30774483	0.004000	0.15560	0.345000	0.25642	0.893000	0.52053	-0.628000	0.05515	0.326000	0.23384	-0.194000	0.12790	GGA		0.557	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			6	52	0	0	0	0.003163	0	6	52				
ITGB2	3689	broad.mit.edu	37	21	46313397	46313397	+	Silent	SNP	G	G	A	rs61737080		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr21:46313397G>A	ENST00000397850.2	-	11	1598	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	ITGB2_ENST00000302347.5_Silent_p.Y382Y|ITGB2_ENST00000397852.1_Silent_p.Y382Y|ITGB2_ENST00000355153.4_Silent_p.Y382Y|ITGB2_ENST00000397854.3_Silent_p.Y325Y|ITGB2_ENST00000397857.1_Silent_p.Y382Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	382					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Y382Y(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGAAGGAGTCGTAGGTGACTT	0.597											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1	0.000199681	0.0	0.0	5008	,	,		20309	0.0		0.001	False		,,,				2504	0.0						uc002zgd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(1144-1146)TAC>TAT		integrin, beta 2 precursor	Simvastatin(DB00641)	A	,	0,4406		0,0,2203	198.0	164.0	175.0		1146,1146	-0.9	1.0	21	dbSNP_129	175	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous	ITGB2	NM_000211.3,NM_001127491.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	382/770,382/770	46313397	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46313397G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1146C>T	21.37:g.46313397G>A			OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	ITGB2_uc002zge.2_Silent_p.Y382Y|ITGB2_uc002zgf.3_Silent_p.Y382Y|ITGB2_uc011afl.1_Silent_p.Y304Y|ITGB2_uc010gpw.2_Silent_p.Y325Y|ITGB2_uc002zgg.2_Silent_p.Y382Y	p.Y382Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	9	1190	-			382			Extracellular (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.1146C>T	CCDS13716.1																																																																																				0.597	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		38	177	0	0	0	0.006999	0	38	177				
STAC	6769	broad.mit.edu	37	3	36527665	36527665	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:36527665G>T	ENST00000273183.3	+	5	911	c.611G>T	c.(610-612)cGc>cTc	p.R204L	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R143L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	204					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.R204L(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAGACCCTCCGCTTCGGCACC	0.562																																							uc003cgh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(610-612)CGC>CTC		SH3 and cysteine rich domain							151.0	155.0	154.0					3																	36527665		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36527665G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.611G>T	3.37:g.36527665G>T	ENSP00000273183:p.Arg204Leu					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R143L	p.R204L	NM_003149	NP_003140	Q99469	STAC_HUMAN			5	650	+			204					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.611G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849732	0.91277	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	D;T;T	0.82526	-1.62;0.72;0.2	5.25	5.25	0.73442	.	0.052198	0.64402	D	0.000001	D	0.87513	0.6196	M	0.67397	2.05	0.58432	D	0.999996	D;D	0.71674	0.993;0.998	P;P	0.54706	0.759;0.622	D	0.88911	0.3359	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:1.0:0.0	.	143;204	E9PEA7;Q99469	.;STAC_HUMAN	L	204;143;136;132	ENSP00000273183:R204L;ENSP00000393713:R143L;ENSP00000398403:R132L	ENSP00000273183:R204L	R	+	2	0	STAC	36502669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.911000	0.92721	2.630000	0.89119	0.655000	0.94253	CGC		0.562	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		56	218	1	0	2.2129e-31	0.01441	2.89589e-31	56	218				
LAMB2	3913	broad.mit.edu	37	3	49167754	49167754	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:49167754G>A	ENST00000418109.1	-	10	1299	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	LAMB2_ENST00000305544.4_Missense_Mutation_p.H379Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	379	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.H379Y(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGTGTTATGCTGACATCCA	0.597																																							uc003cwe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1135-1137)CAT>TAT		laminin, beta 2 precursor							114.0	95.0	101.0					3																	49167754		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167754G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1135C>T	3.37:g.49167754G>A	ENSP00000388325:p.His379Tyr					LAMB2_uc003cwf.1_Missense_Mutation_p.H379Y	p.H379Y	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1434	-			379			Laminin EGF-like 2.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1135C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815649	0.90790	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.65549	-0.16;-0.16	5.17	5.17	0.71159	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88609	0.3155	10	0.66056	D	0.02	.	18.6406	0.91394	0.0:0.0:1.0:0.0	.	379	P55268	LAMB2_HUMAN	Y	379	ENSP00000388325:H379Y;ENSP00000307156:H379Y	ENSP00000307156:H379Y	H	-	1	0	LAMB2	49142758	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.805000	0.99149	2.553000	0.86117	0.591000	0.81541	CAT		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		47	38	0	0	0	0.013114	0	47	38				
LAMB2	3913	broad.mit.edu	37	3	49170269	49170269	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:49170269C>A	ENST00000418109.1	-	2	196	c.32G>T	c.(31-33)gGa>gTa	p.G11V	LAMB2_ENST00000305544.4_Missense_Mutation_p.G11V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	11					astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G11V(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAGGCTGTCCCCTCCCTCT	0.622																																							uc003cwe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(31-33)GGA>GTA		laminin, beta 2 precursor							89.0	79.0	82.0					3																	49170269		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49170269C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.32G>T	3.37:g.49170269C>A	ENSP00000388325:p.Gly11Val					LAMB2_uc003cwf.1_Missense_Mutation_p.G11V	p.G11V	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	1	331	-			11					Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.32G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028219	0.54790	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35236	1.32;1.32	4.65	1.29	0.21616	.	0.741026	0.12053	N	0.503871	T	0.15652	0.0377	N	0.08118	0	0.21220	N	0.999752	B	0.13594	0.008	B	0.09377	0.004	T	0.18777	-1.0326	10	0.66056	D	0.02	.	1.5327	0.02539	0.1976:0.2601:0.3929:0.1495	.	11	P55268	LAMB2_HUMAN	V	11	ENSP00000388325:G11V;ENSP00000307156:G11V	ENSP00000307156:G11V	G	-	2	0	LAMB2	49145273	0.000000	0.05858	0.919000	0.36401	0.607000	0.37147	0.017000	0.13399	0.538000	0.28769	0.655000	0.94253	GGA		0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		21	21	1	0	1.85244e-09	0.00333	2.13433e-09	21	21				
SI	6476	broad.mit.edu	37	3	164777791	164777791	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:164777791C>T	ENST00000264382.3	-	10	1107	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	349	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A349T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCCAATATGCTGGCATTGCT	0.363										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1045-1047)GCA>ACA		sucrase-isomaltase	Acarbose(DB00284)						99.0	106.0	104.0					3																	164777791		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777791C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1045G>A	3.37:g.164777791C>T	ENSP00000264382:p.Ala349Thr	HNSCC(35;0.089)					p.A349T	NM_001041	NP_001032	P14410	SUIS_HUMAN			10	1107	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	349			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1045G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748335	0.49257	.	.	ENSG00000090402	ENST00000264382	D	0.91351	-2.83	5.49	1.03	0.20045	Glycoside hydrolase, superfamily (1);	0.269516	0.42821	D	0.000660	D	0.90195	0.6935	M	0.74881	2.28	0.32618	N	0.523693	B	0.24721	0.11	B	0.27500	0.08	D	0.88418	0.3026	10	0.66056	D	0.02	.	17.3923	0.87435	0.6766:0.3234:0.0:0.0	.	349	P14410	SUIS_HUMAN	T	349	ENSP00000264382:A349T	ENSP00000264382:A349T	A	-	1	0	SI	166260485	0.019000	0.18553	0.971000	0.41717	0.953000	0.61014	0.134000	0.15932	0.141000	0.18875	0.484000	0.47621	GCA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	51	0	0	0	0.004672	0	3	51				
MECOM	2122	broad.mit.edu	37	3	168833635	168833635	+	Silent	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:168833635T>A	ENST00000464456.1	-	7	2661	c.1461A>T	c.(1459-1461)tcA>tcT	p.S487S	MECOM_ENST00000468789.1_Silent_p.S487S|MECOM_ENST00000472280.1_Silent_p.S488S|MECOM_ENST00000460814.1_Silent_p.S487S|MECOM_ENST00000494292.1_Silent_p.S675S|MECOM_ENST00000392736.3_Silent_p.S487S|MECOM_ENST00000433243.2_Silent_p.S488S|MECOM_ENST00000264674.3_Silent_p.S552S	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.S487S(1)		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						CCAGTCCTGTTGAACCAAAGT	0.433																																							uc003ffi.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1459-1461)TCA>TCT		MDS1 and EVI1 complex locus isoform b							336.0	295.0	309.0					3																	168833635		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:168833635T>A	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.1461A>T	3.37:g.168833635T>A						MECOM_uc010hwk.1_Silent_p.S510S|MECOM_uc003ffj.3_Silent_p.S552S|MECOM_uc011bpi.1_Silent_p.S488S|MECOM_uc003ffn.3_Silent_p.S487S|MECOM_uc003ffk.2_Silent_p.S487S|MECOM_uc003ffl.2_Silent_p.S647S|MECOM_uc011bpj.1_Silent_p.S675S|MECOM_uc011bpk.1_Silent_p.S477S|MECOM_uc010hwn.2_Silent_p.S675S	p.S487S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1730	-			487					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1461A>T	CCDS54669.1																																																																																				0.433	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		29	101	0	0	0	0.010818	0	29	101				
DVL3	1857	broad.mit.edu	37	3	183884764	183884764	+	Splice_Site	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:183884764G>T	ENST00000313143.3	+	11	1446		c.e11+1		DVL3_ENST00000431765.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3						canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GACACAGAGCGTGAGTGTCCC	0.622																																							uc003fms.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.e11+1		dishevelled 3							109.0	109.0	109.0					3																	183884764		2203	4300	6503	SO:0001630	splice_region_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884764G>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1198+1G>T	3.37:g.183884764G>T						DVL3_uc011bqw.1_Splice_Site_p.R383_splice|DVL3_uc003fmt.2_Splice_Site_p.R71_splice|DVL3_uc003fmu.2_Splice_Site_p.R232_splice	p.R400_splice	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		11	1338	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)							B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Splice_Site	SNP	ENST00000313143.3	37	c.1198_splice	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300325	0.81136	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DVL3	185367458	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	.		0.622	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	Intron	29	135	1	0	8.58068e-18	0.007291	1.03358e-17	29	135				
PPP2R2C	5522	broad.mit.edu	37	4	6380272	6380272	+	Nonsense_Mutation	SNP	C	C	A	rs200176027		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr4:6380272C>A	ENST00000382599.4	-	3	412	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.E59*|PPP2R2C_ENST00000335585.5_Nonsense_Mutation_p.E66*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.E49*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.E59*|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	66				E -> D (in Ref. 2; AAG39636). {ECO:0000305}.	regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E66*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACGTCGTATTCGCCCTGGCTG	0.587																																							uc003gjc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(196-198)GAA>TAA		gamma isoform of regulatory subunit B55, protein							128.0	121.0	124.0					4																	6380272		2203	4300	6503	SO:0001587	stop_gained	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380272C>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.196G>T	4.37:g.6380272C>A	ENSP00000372042:p.Glu66*					PPP2R2C_uc003gjb.2_Nonsense_Mutation_p.E49*|PPP2R2C_uc011bwd.1_Nonsense_Mutation_p.E59*|PPP2R2C_uc011bwe.1_Nonsense_Mutation_p.E59*|PPP2R2C_uc003gja.2_Nonsense_Mutation_p.E66*|PPP2R2C_uc003gjd.1_Nonsense_Mutation_p.E154*	p.E66*	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			3	566	-			66	E -> D (in Ref. 2; AAG39636).				A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Nonsense_Mutation	SNP	ENST00000382599.4	37	c.196G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.372995	0.98245	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-51.838	17.0219	0.86436	0.0:1.0:0.0:0.0	.	.	.	.	X	66;59;49;66;59	.	ENSP00000335083:E66X	E	-	1	0	PPP2R2C	6431173	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.045000	0.76585	2.576000	0.86940	0.313000	0.20887	GAA		0.587	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		77	83	1	0	1.13027e-35	0.01441	1.49761e-35	77	83				
FSTL5	56884	broad.mit.edu	37	4	162577480	162577480	+	Splice_Site	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr4:162577480A>G	ENST00000306100.5	-	7	1330	c.894T>C	c.(892-894)aaT>aaC	p.N298N	FSTL5_ENST00000379164.4_Splice_Site_p.N297N|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Splice_Site_p.N297N|FSTL5_ENST00000427802.2_Splice_Site_p.N297N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	298	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N298N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTACTCACATTGATGTCTT	0.348																																							uc003iqh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(892-894)AAT>AAC		follistatin-like 5 isoform a							35.0	36.0	36.0					4																	162577480		2203	4298	6501	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162577480A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.894+1T>C	4.37:g.162577480A>G						FSTL5_uc003iqi.2_Silent_p.N297N|FSTL5_uc010iqv.2_Silent_p.N297N	p.N298N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1330	-	all_hematologic(180;0.24)		298			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.894T>C	CCDS3802.1																																																																																				0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Silent	6	8	0	0	0	0.001168	0	6	8				
C7	730	broad.mit.edu	37	5	40937762	40937762	+	Silent	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:40937762G>T	ENST00000313164.9	+	6	896	c.537G>T	c.(535-537)ctG>ctT	p.L179L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	179	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.L179L(1)					Ovarian(839;0.0112)				TCTACAGGCTGAGTGGAAATG	0.378																																							uc003jmh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)CTG>CTT		complement component 7 precursor							139.0	131.0	134.0					5																	40937762		1871	4098	5969	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40937762G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.537G>T	5.37:g.40937762G>T						C7_uc011cpn.1_Intron	p.L179L	NM_000587	NP_000578	P10643	CO7_HUMAN			6	651	+		Ovarian(839;0.0112)	179			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.537G>T	CCDS47201.1																																																																																				0.378	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			11	7	1	0	1.58986e-06	0.008291	1.79283e-06	11	7				
EPB41L4A	64097	broad.mit.edu	37	5	111519749	111519749	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:111519749T>A	ENST00000261486.5	-	18	1862	c.1586A>T	c.(1585-1587)gAc>gTc	p.D529V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	529						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.D529V(1)|p.D156V(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTTGTTGGGGTCGGCTTGGTT	0.428																																							uc003kpv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1585-1587)GAC>GTC		erythrocyte protein band 4.1-like 4							186.0	169.0	175.0					5																	111519749		1871	4098	5969	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111519749T>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1586A>T	5.37:g.111519749T>A	ENSP00000261486:p.Asp529Val					EPB41L4A_uc003kpp.1_Missense_Mutation_p.D156V	p.D529V	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	18	1860	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	529					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1586A>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638343	0.67130	.	.	ENSG00000129595	ENST00000261486	D	0.82255	-1.59	6.17	6.17	0.99709	.	0.053104	0.64402	D	0.000001	D	0.88043	0.6331	L	0.50333	1.59	0.58432	D	0.999999	P;D	0.89917	0.883;1.0	B;D	0.68192	0.299;0.956	D	0.85655	0.1285	10	0.27082	T	0.32	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	529;156	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	V	529	ENSP00000261486:D529V	ENSP00000261486:D529V	D	-	2	0	EPB41L4A	111547648	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.607000	0.61133	2.371000	0.80710	0.533000	0.62120	GAC		0.428	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			40	82	0	0	0	0.011902	0	40	82				
TMEM173	340061	broad.mit.edu	37	5	138861279	138861279	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:138861279G>C	ENST00000330794.4	-	3	344	c.11C>G	c.(10-12)tCc>tGc	p.S4C	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	4					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.S4C(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGCAGGCTGGAGTGGGGCAT	0.627																																							uc003lep.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(10-12)TCC>TGC		transmembrane protein 173							29.0	29.0	29.0					5																	138861279		2199	4300	6499	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138861279G>C		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.11C>G	5.37:g.138861279G>C	ENSP00000331288:p.Ser4Cys						p.S4C	NM_198282	NP_938023	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	262	-			4			Cytoplasmic (Potential).		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.11C>G	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412173	0.42817	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.36699	1.66;1.24	5.19	4.32	0.51571	.	1.280420	0.04963	N	0.462519	T	0.46946	0.1419	L	0.57536	1.79	0.09310	N	1	D	0.55385	0.971	P	0.50378	0.639	T	0.25293	-1.0136	10	0.72032	D	0.01	-5.2245	7.4469	0.27217	0.1876:0.0:0.8124:0.0	.	4	Q86WV6	TM173_HUMAN	C	4	ENSP00000331288:S4C;ENSP00000427455:S4C	ENSP00000331288:S4C	S	-	2	0	TMEM173	138841463	0.032000	0.19561	0.596000	0.28811	0.290000	0.27261	2.439000	0.44846	1.414000	0.47017	0.655000	0.94253	TCC		0.627	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		13	37	0	0	0	0.001855	0	13	37				
Unknown	0	broad.mit.edu	37	6	29855952	29855952	+	IGR	SNP	A	A	C	rs72843343	byFrequency	TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:29855952A>C								HLA-G (57050 upstream) : HLA-A (53084 downstream)																							CACAGACTGAACGAGAGAACC	0.682													a|||	601	0.120008	0.121	0.121	5008	,	,		11029	0.1319		0.0736	False		,,,				2504	0.1534						uc010jro.2		NA																	0					0						c.(187-189)GAA>GAC		SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H;																																				SO:0001628	intergenic_variant	3136							g.chr6:29855952A>C																													6.37:g.29855952A>C						HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA	p.E63D							2	241	+									Missense_Mutation	SNP		37	c.189A>C																																																																																				0	0.682									3	18	0	0	0	0.001168	0	3	18				
PRRC2A	7916	broad.mit.edu	37	6	31599748	31599748	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:31599748C>T	ENST00000376033.2	+	16	3532	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1100W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1100	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1100W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AATCCCCAAGCGGCGCCGGCA	0.637																																							uc003nvb.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3298-3300)CGG>TGG		HLA-B associated transcript-2							36.0	48.0	44.0					6																	31599748		1507	2708	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599748C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3298C>T	6.37:g.31599748C>T	ENSP00000365201:p.Arg1100Trp					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1100W	p.R1100W	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3547	+			1100			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3298C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160642	0.21454	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.18174	2.23;2.23	4.88	3.99	0.46301	.	0.000000	0.49305	D	0.000151	T	0.24890	0.0604	L	0.59436	1.845	0.46437	D	0.999049	D	0.89917	1.0	D	0.87578	0.998	T	0.02378	-1.1168	10	0.87932	D	0	-12.8486	10.7407	0.46152	0.4894:0.5106:0.0:0.0	.	1100	P48634	PRC2A_HUMAN	W	1100;1100;325	ENSP00000365175:R1100W;ENSP00000365201:R1100W	ENSP00000365175:R1100W	R	+	1	2	PRRC2A	31707727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.450000	0.35134	1.241000	0.43820	0.655000	0.94253	CGG		0.637	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	53	0	0	0	0.004482	0	7	53				
LYPLA2P1	653639	broad.mit.edu	37	6	33333333	33333333	+	IGR	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:33333333G>A								DAXX (42542 upstream) : KIFC1 (25979 downstream)																							AGTTAGACAGGAGGCAGCAGC	0.577																																							uc003shx.2		NA																	0					0						c.(673-675)CCT>TCT		SubName: Full=Lysophospholipase II; Flags: Fragment;																																				SO:0001628	intergenic_variant	653639							g.chr6:33333333G>A																													6.37:g.33333333G>A							p.P225S	NR_001444						1	807	-									Missense_Mutation	SNP		37	c.673C>T																																																																																				0	0.577									3	17	0	0	0	0.004672	0	3	17				
TBX18	9096	broad.mit.edu	37	6	85446869	85446869	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:85446869C>T	ENST00000369663.5	-	8	1695	c.1358G>A	c.(1357-1359)aGg>aAg	p.R453K	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	453					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R453K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGGGAGTCCTGGGCGGGGC	0.602																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1357-1359)AGG>AAG		T-box 18							98.0	89.0	92.0					6																	85446869		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446869C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1358G>A	6.37:g.85446869C>T	ENSP00000358677:p.Arg453Lys					TBX18_uc010kbq.1_Intron	p.R453K	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1358	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	453					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1358G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839155	0.71373	.	.	ENSG00000112837	ENST00000369663	D	0.87334	-2.24	5.48	4.59	0.56863	.	0.071026	0.64402	D	0.000017	D	0.86049	0.5840	L	0.32530	0.975	0.58432	D	0.999997	D	0.67145	0.996	D	0.75484	0.986	D	0.84996	0.0897	10	0.27082	T	0.32	.	16.1361	0.81490	0.0:0.866:0.134:0.0	.	453	O95935	TBX18_HUMAN	K	453	ENSP00000358677:R453K	ENSP00000358677:R453K	R	-	2	0	TBX18	85503588	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	6.367000	0.73099	1.277000	0.44412	0.585000	0.79938	AGG		0.602	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		37	40	0	0	0	0.004878	0	37	40				
STK31	56164	broad.mit.edu	37	7	23751905	23751905	+	Splice_Site	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:23751905G>T	ENST00000355870.3	+	3	269	c.150G>T	c.(148-150)caG>caT	p.Q50H	STK31_ENST00000428484.1_Splice_Site_p.Q27H|STK31_ENST00000354639.3_Splice_Site_p.Q27H|STK31_ENST00000433467.2_Splice_Site_p.Q50H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	50						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.Q50H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGGGCCCAGGTAAATAGCA	0.373																																							uc003sws.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(148-150)CAG>CAT		serine/threonine kinase 31 isoform a							161.0	157.0	158.0					7																	23751905		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23751905G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.150+1G>T	7.37:g.23751905G>T						STK31_uc003swt.3_Missense_Mutation_p.Q27H|STK31_uc011jze.1_Missense_Mutation_p.Q50H|STK31_uc010kuq.2_Missense_Mutation_p.Q27H	p.Q50H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			3	217	+			50					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.150G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811331	0.70797	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000531170;ENST00000444333;ENST00000428484	T;T;T;T;T;T;T	0.35048	2.76;1.33;2.76;2.76;2.76;2.76;2.76	5.61	4.73	0.59995	Maternal tudor protein (1);	0.000000	0.64402	D	0.000001	T	0.55545	0.1927	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58470	-0.7631	10	0.87932	D	0	-8.4953	10.0401	0.42153	0.0916:0.0:0.9084:0.0	.	50;50	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	50;27;27;50;27;27;27;27	ENSP00000348132:Q50H;ENSP00000414087:Q27H;ENSP00000389340:Q27H;ENSP00000411852:Q50H;ENSP00000346660:Q27H;ENSP00000398413:Q27H;ENSP00000406146:Q27H	ENSP00000346660:Q27H	Q	+	3	2	STK31	23718430	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.565000	0.53798	1.368000	0.46115	0.655000	0.94253	CAG		0.373	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Missense_Mutation	42	84	1	0	1.23713e-20	0.01441	1.54277e-20	42	84				
SLC13A1	6561	broad.mit.edu	37	7	122768953	122768953	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:122768953A>C	ENST00000194130.2	-	10	1118	c.1079T>G	c.(1078-1080)cTa>cGa	p.L360R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	360					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L360R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTAAACCATAGCAGAGCCAT	0.418																																							uc003vkm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1078-1080)CTA>CGA		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						94.0	80.0	85.0					7																	122768953		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122768953A>C		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1079T>G	7.37:g.122768953A>C	ENSP00000194130:p.Leu360Arg					SLC13A1_uc010lks.2_Missense_Mutation_p.L236R	p.L360R	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			10	1104	-			360			Helical; (Potential).		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1079T>G	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317456	0.60524	.	.	ENSG00000081800	ENST00000194130	T	0.04275	3.66	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54583	-0.8272	10	0.87932	D	0	-34.874	15.4921	0.75615	1.0:0.0:0.0:0.0	.	360;360	A4D0X1;Q9BZW2	.;S13A1_HUMAN	R	360	ENSP00000194130:L360R	ENSP00000194130:L360R	L	-	2	0	SLC13A1	122556189	1.000000	0.71417	0.886000	0.34754	0.248000	0.25809	7.731000	0.84895	2.257000	0.74773	0.460000	0.39030	CTA		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	40	0	0	0	0.003163	0	15	40				
SLC25A37	51312	broad.mit.edu	37	8	23429006	23429006	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:23429006T>C	ENST00000519973.1	+	4	853	c.655T>C	c.(655-657)Tat>Cat	p.Y219H	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	219					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.Y219H(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CTTCATCACCTATGAGTTCCT	0.657																																							uc003xdo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(655-657)TAT>CAT		solute carrier family 25, member 37							62.0	67.0	66.0					8																	23429006		2093	4200	6293	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429006T>C	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.655T>C	8.37:g.23429006T>C	ENSP00000429200:p.Tyr219His					SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank	p.Y219H	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	808	+		Prostate(55;0.114)	219			Helical; Name=4; (Potential).|Solcar 2.		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.655T>C	CCDS47828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.981156|3.981156	0.74474|0.74474	.|.	.|.	ENSG00000147454|ENSG00000147454	ENST00000523930|ENST00000519973	D|D	0.84298|0.84873	-1.83|-1.91	5.8|5.8	4.63|4.63	0.57726|0.57726	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94082|0.94082	0.8103|0.8103	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94440|0.94440	0.7657|0.7657	7|10	0.87932|0.87932	D|D	0|0	-1.1453|-1.1453	11.3035|11.3035	0.49320|0.49320	0.1366:0.0:0.0:0.8634|0.1366:0.0:0.0:0.8634	.|.	.|219	.|Q9NYZ2	.|MFRN1_HUMAN	P|H	153|219	ENSP00000428066:L153P|ENSP00000429200:Y219H	ENSP00000428066:L153P|ENSP00000429200:Y219H	L|Y	+|+	2|1	0|0	SLC25A37|SLC25A37	23484951|23484951	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.979000|0.979000	0.70002|0.70002	7.698000|7.698000	0.84413|0.84413	1.003000|1.003000	0.39130|0.39130	0.528000|0.528000	0.53228|0.53228	CTA|TAT		0.657	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		3	63	0	0	0	0.009096	0	3	63				
TTI2	80185	broad.mit.edu	37	8	33361019	33361019	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:33361019T>C	ENST00000431156.2	-	6	1805	c.1187A>G	c.(1186-1188)gAt>gGt	p.D396G	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.D396G|TTI2_ENST00000520636.1_Missense_Mutation_p.D365G	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	396								p.D396G(1)									CTCAGGTCCATCATAAACCTC	0.443																																							uc003xjl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)GAT>GGT		hypothetical protein LOC80185							177.0	178.0	178.0					8																	33361019		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33361019T>C	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1187A>G	8.37:g.33361019T>C	ENSP00000411169:p.Asp396Gly					C8orf41_uc003xjk.3_Missense_Mutation_p.D365G|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Missense_Mutation_p.D396G|C8orf41_uc003xjn.1_Missense_Mutation_p.D396G	p.D396G	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	5	1712	-			396					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1187A>G	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805988	0.90623	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.78364	-1.17;-1.17;-0.6	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88684	0.3204	10	0.62326	D	0.03	-26.5694	16.227	0.82300	0.0:0.0:0.0:1.0	.	396;365	Q6NXR4;E5RIH5	TTI2_HUMAN;.	G	396;396;385;365	ENSP00000353971:D396G;ENSP00000411169:D396G;ENSP00000428401:D365G	ENSP00000353971:D396G	D	-	2	0	C8orf41	33480561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.700000	0.74619	2.302000	0.77476	0.533000	0.62120	GAT		0.443	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		3	192	0	0	0	0.004672	0	3	192				
KLHL38	340359	broad.mit.edu	37	8	124659239	124659239	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:124659239T>C	ENST00000325995.7	-	2	1389	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	456								p.R456G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACGAGTTTCTGGAAATGTGA	0.438																																							uc003yqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)AGA>GGA		kelch-like 38							173.0	166.0	169.0					8																	124659239		1946	4139	6085	SO:0001583	missense	340359							g.chr8:124659239T>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1366A>G	8.37:g.124659239T>C	ENSP00000321475:p.Arg456Gly						p.R456G	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			2	1390	-			456			Kelch 4.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1366A>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	t	13.15	2.151622	0.38021	.	.	ENSG00000175946	ENST00000325995	T	0.66280	-0.2	5.04	5.04	0.67666	Kelch-type beta propeller (1);	0.093858	0.64402	D	0.000002	T	0.55940	0.1952	L	0.47716	1.5	0.44555	D	0.997517	B	0.11235	0.004	B	0.09377	0.004	T	0.52815	-0.8525	10	0.37606	T	0.19	.	14.8202	0.70068	0.0:0.0:0.0:1.0	.	456	Q2WGJ6	KLH38_HUMAN	G	456	ENSP00000321475:R456G	ENSP00000321475:R456G	R	-	1	2	KLHL38	124728420	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.090000	0.57693	1.916000	0.55485	0.370000	0.22315	AGA		0.438	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			53	122	0	0	0	0.01441	0	53	122				
TATDN1	83940	broad.mit.edu	37	8	125498172	125498172	+	IGR	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:125498172G>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.L94L|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.L94L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCAGTGTTGGTGAATTATT	0.428																																							uc003yrc.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(280-282)TTG>TTA		ring finger protein 139							180.0	153.0	162.0					8																	125498172		2203	4300	6503	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498172G>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498172G>A							p.L94L	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	625	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		94			Helical; (Potential).		B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	c.282G>A	CCDS6351.1																																																																																				0.428	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		41	96	0	0	0	0.011902	0	41	96				
ADCY8	114	broad.mit.edu	37	8	132051638	132051638	+	Silent	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:132051638C>T	ENST00000286355.5	-	1	3034	c.942G>A	c.(940-942)gcG>gcA	p.A314A	ADCY8_ENST00000377928.3_Silent_p.A314A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	314					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A314A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGAAATGACCGCCAGCCGGG	0.587										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(940-942)GCG>GCA		adenylate cyclase 8							45.0	56.0	52.0					8																	132051638		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051638C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.942G>A	8.37:g.132051638C>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.A314A	p.A314A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	1198	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		314			Helical; (Potential).			Silent	SNP	ENST00000286355.5	37	c.942G>A	CCDS6363.1																																																																																				0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			30	86	0	0	0	0.013726	0	30	86				
FAM135B	51059	broad.mit.edu	37	8	139151255	139151255	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:139151255A>G	ENST00000395297.1	-	18	4045	c.3875T>C	c.(3874-3876)tTc>tCc	p.F1292S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGTAGAGGAAACATTTGCG	0.448										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3874-3876)TTC>TCC		hypothetical protein LOC51059							131.0	125.0	127.0					8																	139151255		1878	4118	5996	SO:0001583	missense	51059							g.chr8:139151255A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3875T>C	8.37:g.139151255A>G	ENSP00000378710:p.Phe1292Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F1193S|FAM135B_uc003yuz.2_RNA	p.F1292S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4046	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1292					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3875T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740967	0.89573	.	.	ENSG00000147724	ENST00000395297	T	0.52526	0.66	5.37	5.37	0.77165	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78380	-0.2226	10	0.87932	D	0	-21.761	14.5598	0.68128	1.0:0.0:0.0:0.0	.	1292	Q49AJ0	F135B_HUMAN	S	1292	ENSP00000378710:F1292S	ENSP00000378710:F1292S	F	-	2	0	FAM135B	139220437	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.050000	0.60909	0.533000	0.62120	TTC		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	86	0	0	0	0.010771	0	41	86				
PTGS1	5742	broad.mit.edu	37	9	125148924	125148924	+	Silent	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr9:125148924C>T	ENST00000362012.2	+	9	1214	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	PTGS1_ENST00000540753.1_Intron|AL162424.1_ENST00000600713.1_Missense_Mutation_p.R2H|PTGS1_ENST00000373698.5_Silent_p.Y294Y|PTGS1_ENST00000223423.4_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	403					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Y403Y(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGTACAGCTACGAGCAGTTCT	0.572																																							uc004bmg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1207-1209)TAC>TAT		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						152.0	131.0	138.0					9																	125148924		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148924C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1209C>T	9.37:g.125148924C>T						PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Silent_p.Y294Y|PTGS1_uc011lyt.1_Silent_p.Y294Y	p.Y403Y	NM_000962	NP_000953	P23219	PGH1_HUMAN			9	1344	+			403					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1209C>T	CCDS6842.1																																																																																				0.572	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			14	124	0	0	0	0.00245	0	14	124				
GTF3C5	9328	broad.mit.edu	37	9	135917627	135917627	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr9:135917627G>A	ENST00000372097.5	+	2	630	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000342018.8_Missense_Mutation_p.A103T|GTF3C5_ENST00000372108.5_Missense_Mutation_p.A103T|GTF3C5_ENST00000372099.6_Missense_Mutation_p.A94T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	103					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.A103T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGGCACTGAGGCCCACTCCGA	0.532																																							uc004cci.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GCC>ACC		general transcription factor IIIC, polypeptide 5							87.0	87.0	87.0					9																	135917627		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135917627G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.307G>A	9.37:g.135917627G>A	ENSP00000361169:p.Ala103Thr					GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.A103T	p.A103T	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	2	644	+			103					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.307G>A	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812714	0.32053	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.49139	0.79;0.85;0.8;0.82	5.34	0.571	0.17352	.	0.541334	0.17463	N	0.173365	T	0.21881	0.0527	N	0.20401	0.57	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09357	-1.0678	10	0.14252	T	0.57	-39.7735	0.2589	0.00216	0.3407:0.1979:0.2621:0.1993	.	103;103	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	T	103;56;94;103;103	ENSP00000361169:A103T;ENSP00000361171:A94T;ENSP00000361180:A103T;ENSP00000339530:A103T	ENSP00000339530:A103T	A	+	1	0	GTF3C5	134907448	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.250000	0.08830	0.181000	0.19994	0.655000	0.94253	GCC		0.532	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		32	116	0	0	0	0.004289	0	32	116				
NDP	4693	broad.mit.edu	37	X	43817761	43817761	+	Missense_Mutation	SNP	T	T	C	rs104894870		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chrX:43817761T>C	ENST00000378062.5	-	2	538	c.131A>G	c.(130-132)tAt>tGt	p.Y44C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	44	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		Y -> C (in ND). {ECO:0000269|PubMed:1303264, ECO:0000269|PubMed:14635119}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)	p.Y44C(1)		kidney(1)|lung(2)	3						AGAATCCACATAGTGGTGCCT	0.483																																							uc004dga.3		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM920497	NDP	M	rs104894870	c.(130-132)TAT>TGT		norrin precursor							211.0	155.0	174.0					X																	43817761		2203	4300	6503	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817761T>C	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.131A>G	X.37:g.43817761T>C	ENSP00000367301:p.Tyr44Cys						p.Y44C	NM_000266	NP_000257	Q00604	NDP_HUMAN			2	710	-			44		Y -> C (in ND).	CTCK.		B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.131A>G	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060580	0.55432	.	.	ENSG00000124479	ENST00000378062	D	0.99264	-5.65	5.98	5.98	0.97165	Cystine knot, C-terminal (2);	0.069196	0.64402	D	0.000011	D	0.98498	0.9499	N	0.19112	0.55	0.46203	A	0.998922	D	0.69078	0.997	P	0.61477	0.889	D	0.99937	1.1371	9	0.87932	D	0	-16.3938	15.3225	0.74132	0.0:0.0:0.0:1.0	.	44	Q00604	NDP_HUMAN	C	44	ENSP00000367301:Y44C	ENSP00000367301:Y44C	Y	-	2	0	NDP	43702705	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.458000	0.60095	2.002000	0.58637	0.486000	0.48141	TAT		0.483	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		7	88	0	0	0	0.004482	0	7	88				
RIT1	6016	broad.mit.edu	37	1	155874278	155874283	+	In_Frame_Del	DEL	TGGCTG	TGGCTG	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	TGGCTG	TGGCTG	-	-	TGGCTG	TGGCTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:155874278_155874283delTGGCTG	ENST00000368323.3	-	5	452_457	c.248_253delCAGCCA	c.(247-255)acagccatg>atg	p.TA83del	RIT1_ENST00000539040.1_In_Frame_Del_p.TA47del|RIT1_ENST00000368322.3_In_Frame_Del_p.TA100del	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	83			T -> P (probable disease-associated mutation found in patients with features of Noonan syndrome).		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TGGTCCCGCATGGCTGTAAACTCTGC	0.417																																							uc001fmh.1		NA																	0				breast(1)	1						c.(247-255)ACAGCCATG>ATG		Ras-like without CAAX 1																																				SO:0001651	inframe_deletion	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874278_155874283delTGGCTG	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.248_253delCAGCCA	1.37:g.155874278_155874283delTGGCTG	ENSP00000357306:p.Thr83_Ala84del					RIT1_uc010pgr.1_In_Frame_Del_p.TA47del	p.TA83del	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	435_440	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		83_84					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	In_Frame_Del	DEL	ENST00000368323.3	37	c.248_253delCAGCCA	CCDS1123.1																																																																																				0.417	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		35	35	NA	NA	NA	NA	NA	35	35	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184690453	184690454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:184690453_184690454insC	ENST00000318130.8	-	9	1186_1187	c.920_921insG	c.(919-921)ggafs	p.G307fs	EDEM3_ENST00000367512.3_Frame_Shift_Ins_p.G264fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	307					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACTGTCATCTCCAAGCAAGAC	0.297																																							uc010pok.1		NA																	0				skin(1)	1						c.(919-921)GGAfs		ER degradation enhancer, mannosidase alpha-like																																				SO:0001589	frameshift_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184690453_184690454insC	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.921dupG	1.37:g.184690455_184690455dupC	ENSP00000318147:p.Gly307fs					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Frame_Shift_Ins_p.G307fs|EDEM3_uc001gqy.2_Frame_Shift_Ins_p.G230fs	p.G307fs	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			9	1181_1182	-			307					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Frame_Shift_Ins	INS	ENST00000318130.8	37	c.920_921insG	CCDS1363.2																																																																																				0.297	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		60	37	NA	NA	NA	NA	NA	60	37	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57073747	57073747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:57073747delG	ENST00000262510.6	+	16	3081	c.2856delG	c.(2854-2856)aagfs	p.K952fs	NLRC5_ENST00000539144.1_Frame_Shift_Del_p.K952fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.K952fs|NLRC5_ENST00000436936.1_Frame_Shift_Del_p.K952fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	952					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAGCAGAAGGGGCCCCAGG	0.572																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(2854-2856)AAGfs		nucleotide-binding oligomerization domains 27							101.0	104.0	103.0					16																	57073747		2198	4300	6498	SO:0001589	frameshift_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57073747delG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2856delG	16.37:g.57073747delG	ENSP00000262510:p.Lys952fs					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Frame_Shift_Del_p.K701fs|NLRC5_uc002ekl.2_Frame_Shift_Del_p.K757fs|NLRC5_uc002ekm.2_Frame_Shift_Del_p.K757fs|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_5'Flank|NLRC5_uc002ekp.1_5'Flank	p.K952fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			16	3081	+		all_neural(199;0.225)	952			LRR 7.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	ENST00000262510.6	37	c.2856delG	CCDS10773.1																																																																																				0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		80	132	NA	NA	NA	NA	NA	80	132	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	68894367	68894367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:68894367delA	ENST00000261778.1	+	2	687	c.675delA	c.(673-675)gcafs	p.A225fs		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	225						integral component of membrane (GO:0016021)											ATATCGCAGCAGGTCTGTGCC	0.493																																							uc002ewi.3		NA																	0					0						c.(673-675)GCAfs		transmembrane and coiled-coil domains 7							95.0	94.0	94.0					16																	68894367		1966	4158	6124	SO:0001589	frameshift_variant	79613					integral to membrane	binding	g.chr16:68894367delA		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.675delA	16.37:g.68894367delA	ENSP00000261778:p.Ala225fs					TMCO7_uc002ewh.2_Frame_Shift_Del_p.A225fs	p.A225fs	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	687	+		Ovarian(137;0.0568)	225					Q569F9|Q9H9K1	Frame_Shift_Del	DEL	ENST00000261778.1	37	c.675delA	CCDS45516.1																																																																																				0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		71	118	NA	NA	NA	NA	NA	71	118	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40854284	40854284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr18:40854284delC	ENST00000255224.3	-	2	478	c.110delG	c.(109-111)tgcfs	p.C38fs	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Frame_Shift_Del_p.C20fs	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	38					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCTGACAGCAGATCCATGC	0.408																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	0				skin(5)	5						c.(109-111)TGCfs		synaptotagmin IV							60.0	58.0	59.0					18																	40854284		2203	4300	6503	SO:0001589	frameshift_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854284delC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.110delG	18.37:g.40854284delC	ENSP00000255224:p.Cys38fs					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Frame_Shift_Del_p.C19fs|SYT4_uc010dnh.2_Intron	p.C37fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	479	-			37			Helical; (Potential).		B4DEU3|Q9P2K4	Frame_Shift_Del	DEL	ENST00000255224.3	37	c.110delG	CCDS11922.1																																																																																				0.408	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		11	38	NA	NA	NA	NA	NA	11	38	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27600974	27600985	+	In_Frame_Del	DEL	GGGCCCTGGGGC	GGGCCCTGGGGC	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	GGGCCCTGGGGC	GGGCCCTGGGGC	-	-	GGGCCCTGGGGC	GGGCCCTGGGGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:27600974_27600985delGGGCCCTGGGGC	ENST00000323703.6	-	4	1251_1262	c.1053_1064delGCCCCAGGGCCC	c.(1051-1065)gggccccagggcccc>ggc	p.PQGP352del	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_In_Frame_Del_p.PQGP290del	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	352					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTCACTGGGGCCCTGGGGCCCCCCACTGG	0.642																																							uc002rkk.2		NA																	0				ovary(1)	1						c.(1051-1065)GGGCCCCAGGGCCCC>GGC		zinc finger protein 513																																				SO:0001651	inframe_deletion	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600974_27600985delGGGCCCTGGGGC	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1053_1064delGCCCCAGGGCCC	2.37:g.27600974_27600985delGGGCCCTGGGGC	ENSP00000318373:p.Pro352_Pro355del					ZNF513_uc002rkj.2_In_Frame_Del_p.PQGP290del	p.PQGP352del	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1253_1264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		352_355					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	In_Frame_Del	DEL	ENST00000323703.6	37	c.1053_1064delGCCCCAGGGCCC	CCDS1751.1																																																																																				0.642	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		19	120	NA	NA	NA	NA	NA	19	120	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153839829	153839829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:153839829delT	ENST00000356448.4	+	2	332	c.48delT	c.(46-48)cctfs	p.P16fs	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.P16fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.P16fs|ARHGEF26-AS1_ENST00000491862.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	16					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCATAACCCCTTTGTGGCGGA	0.612																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)		uc011bog.1		NA																	0				large_intestine(1)	1						c.(46-48)CCTfs		Src homology 3 domain-containing guanine							29.0	32.0	31.0					3																	153839829		2053	4202	6255	SO:0001589	frameshift_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153839829delT	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.48delT	3.37:g.153839829delT	ENSP00000348828:p.Pro16fs					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Frame_Shift_Del_p.P16fs	p.P16fs	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	259	+			16					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Frame_Shift_Del	DEL	ENST00000356448.4	37	c.48delT	CCDS46938.1																																																																																				0.612	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		7	21	NA	NA	NA	NA	NA	7	21	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155114064	155114065	+	Frame_Shift_Ins	INS	-	-	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:155114064_155114065insA	ENST00000367178.3	+	5	1005_1006	c.429_430insA	c.(430-432)acafs	p.T144fs	SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.T210fs|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.T144fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	144					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGTTGTCACACCTGTTTT	0.396																																							uc003qqa.2		NA																	0					0						c.(427-432)GTCACAfs		RNA-binding motif protein 16																																				SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155114064_155114065insA	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.430dupA	6.37:g.155114065_155114065dupA	ENSP00000356146:p.Thr144fs					RBM16_uc011efj.1_Frame_Shift_Ins_p.V209fs|RBM16_uc011efk.1_Frame_Shift_Ins_p.V188fs|RBM16_uc003qpz.2_Frame_Shift_Ins_p.V143fs|RBM16_uc010kji.2_Frame_Shift_Ins_p.V164fs	p.V143fs	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	6	661_662	+		Ovarian(120;0.196)	143_144					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Ins	INS	ENST00000367178.3	37	c.429_430insA	CCDS5247.1																																																																																				0.396	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		18	23	NA	NA	NA	NA	NA	18	23	---	---	---	---
