#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
CLCNKB	1188	broad.mit.edu	37	1	16375654	16375654	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:16375654C>G	ENST00000375679.4	+	8	806	c.695C>G	c.(694-696)tCt>tGt	p.S232C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S63C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	232					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCACTTCTCTGTCTGGGAT	0.637																																						uc001axw.3		NaN																	0				skin(1)	1						c.(694-696)TCT>TGT		chloride channel Kb isoform 1							97.0	103.0	101.0					1																	16375654		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16375654C>G	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.695C>G	1.37:g.16375654C>G	ENSP00000364831:p.Ser232Cys					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.S232C|CLCNKB_uc001axy.3_Missense_Mutation_p.S63C	p.S232C	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	775	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	232					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.695C>G	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.688120	0.88639	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.95137	-3.62;-3.62	4.0	4.0	0.46444	Chloride channel, core (2);	0.180461	0.47852	D	0.000216	D	0.96722	0.8930	M	0.79011	2.435	0.51012	D	0.999906	D;D	0.67145	0.996;0.993	D;D	0.67382	0.935;0.951	D	0.97292	0.9925	10	0.66056	D	0.02	.	15.4697	0.75432	0.0:1.0:0.0:0.0	.	63;232	Q5T5Q7;P51801	.;CLCKB_HUMAN	C	232;63	ENSP00000364831:S232C;ENSP00000364819:S63C	ENSP00000364819:S63C	S	+	2	0	CLCNKB	16248241	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	7.459000	0.80802	1.955000	0.56771	0.561000	0.74099	TCT		0.637	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1		NM_000085		27	66	0	0	0	0.134883	0	27	66		
ALDH4A1	8659	broad.mit.edu	37	1	19204070	19204070	+	Missense_Mutation	SNP	G	G	A	rs139430775		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:19204070G>A	ENST00000375341.3	-	10	1234	c.977C>T	c.(976-978)tCg>tTg	p.S326L	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S266L|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S326L|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S326L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	326					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCGGCCGAGCGGTGCAC	0.672																																						uc001bbb.2		NaN																	0					0						c.(976-978)TCG>TTG		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)	G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	27.0	27.0	27.0		797,977,977	4.7	1.0	1	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	266/504,326/564,326/564	19204070	1,13005	2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19204070G>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.977C>T	1.37:g.19204070G>A	ENSP00000364490:p.Ser326Leu					ALDH4A1_uc010ocu.1_Missense_Mutation_p.S266L|ALDH4A1_uc001bbc.2_Missense_Mutation_p.S326L	p.S326L	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1253	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	326					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.977C>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734340	0.69189	0.0	1.16E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.66	4.66	0.58398	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.070652	0.64402	D	0.000014	T	0.70806	0.3266	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.81660	-0.0832	10	0.87932	D	0	-15.2278	16.1125	0.81273	0.0:0.0:1.0:0.0	.	326	P30038	AL4A1_HUMAN	L	326;326;326;266	ENSP00000290597:S326L;ENSP00000364490:S326L;ENSP00000446071:S326L;ENSP00000442988:S266L	ENSP00000290597:S326L	S	-	2	0	ALDH4A1	19076657	1.000000	0.71417	0.965000	0.40720	0.055000	0.15305	9.135000	0.94478	2.153000	0.67306	0.561000	0.74099	TCG		0.672	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1				3	19	0	0	0	0.009096	0	3	19		
GRHL3	57822	broad.mit.edu	37	1	24664503	24664503	+	Missense_Mutation	SNP	G	G	A	rs141594535		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:24664503G>A	ENST00000350501.5	+	7	989	c.862G>A	c.(862-864)Gac>Aac	p.D288N	GRHL3_ENST00000342072.4_Missense_Mutation_p.D195N|GRHL3_ENST00000361548.4_Missense_Mutation_p.D288N|GRHL3_ENST00000236255.4_Missense_Mutation_p.D293N|GRHL3_ENST00000356046.2_Missense_Mutation_p.D242N	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	288					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGTTGTCTTCGACAATGAGAA	0.572																																						uc001biy.2		NaN																	0				ovary(1)	1						c.(877-879)GAC>AAC		sister-of-mammalian grainyhead protein isoform		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	136.0	124.0	128.0		724,877,862,862	6.1	1.0	1	dbSNP_134	128	0,8600		0,0,4300	no	missense,missense,missense,missense	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	23,23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	242/557,293/608,288/603,288/627	24664503	1,13005	2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24664503G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.862G>A	1.37:g.24664503G>A	ENSP00000288955:p.Asp288Asn					GRHL3_uc001bix.2_Missense_Mutation_p.D288N|GRHL3_uc001biz.2_Missense_Mutation_p.D195N	p.D293N	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	7	923	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	288					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.877G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177805	0.78564	2.27E-4	0.0	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	6.07	6.07	0.98685	.	0.047237	0.85682	D	0.000000	T	0.39172	0.1068	L	0.54323	1.7	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.966;0.966	T	0.00443	-1.1736	10	0.33940	T	0.23	-47.5765	19.6475	0.95784	0.0:0.0:1.0:0.0	.	242;293;288	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	288;195;288;242;293	ENSP00000354943:D288N;ENSP00000340543:D195N;ENSP00000288955:D288N;ENSP00000348333:D242N;ENSP00000236255:D293N	ENSP00000236255:D293N	D	+	1	0	GRHL3	24537090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.900000	0.87376	2.885000	0.99019	0.655000	0.94253	GAC		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180		35	69	0	0	0	0.117977	0	35	69		
GPATCH3	63906	broad.mit.edu	37	1	27216470	27216470	+	IGR	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:27216470C>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_Missense_Mutation_p.V40M	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACCACCGCCACGCGCCGGCCC	0.721																																						uc001bnd.1		NaN																	0					0						c.(118-120)GTG>ATG		ATP binding domain 1 family, member B							16.0	17.0	17.0					1																	27216470		2186	4272	6458	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216470C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216470C>T							p.V40M	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			1	400	-			40					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.118G>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924706	0.73213	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.34859	1.34	4.8	4.8	0.61643	.	0.147968	0.45126	D	0.000398	T	0.67832	0.2935	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.76019	-0.3112	10	0.59425	D	0.04	-54.4312	12.7316	0.57201	0.1644:0.8356:0.0:0.0	.	40	Q9H9Y4	GPN2_HUMAN	M	40	ENSP00000363250:V40M	ENSP00000363246:V40M	V	-	1	0	GPN2	27089057	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.689000	0.68234	2.495000	0.84180	0.655000	0.94253	GTG		0.721	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1		NM_022078		3	12	0	0	0	0.009096	0	3	12		
CSMD2	114784	broad.mit.edu	37	1	34208906	34208906	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:34208906C>T	ENST00000373381.4	-	14	2324	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	676	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAGCCCCTCTTCCCTGTGG	0.582																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(2026-2028)AAG>AAA		CUB and Sushi multiple domains 2							54.0	44.0	48.0					1																	34208906		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34208906C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2148G>A	1.37:g.34208906C>T						CSMD2_uc001bxm.1_Silent_p.K716K	p.K676K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	2057	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	676			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2028G>A																																																																																					0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		5	20	0	0	0	0.02938	0	5	20		
MTF1	4520	broad.mit.edu	37	1	38289456	38289456	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:38289456G>A	ENST00000373036.4	-	8	1237	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	366					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GATTGCTGGTGAAATTGTGCT	0.438																																						uc001cce.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1096-1098)TCA>TTA		metal-regulatory transcription factor 1							160.0	132.0	142.0					1																	38289456		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38289456G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1097C>T	1.37:g.38289456G>A	ENSP00000362127:p.Ser366Leu					MTF1_uc009vvj.1_Missense_Mutation_p.S57L	p.S366L	NM_005955	NP_005946	Q14872	MTF1_HUMAN			8	1238	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	366					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1097C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961027	0.53400	.	.	ENSG00000188786	ENST00000373036	T	0.09723	2.95	5.3	5.3	0.74995	.	0.135588	0.52532	D	0.000071	T	0.11324	0.0276	L	0.46157	1.445	0.42318	D	0.992246	B	0.12630	0.006	B	0.06405	0.002	T	0.05209	-1.0899	10	0.36615	T	0.2	.	12.3266	0.55013	0.0777:0.0:0.9223:0.0	.	366	Q14872	MTF1_HUMAN	L	366	ENSP00000362127:S366L	ENSP00000362127:S366L	S	-	2	0	MTF1	38062043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.669000	0.74462	2.492000	0.84095	0.563000	0.77884	TCA		0.438	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2		NM_005955		18	34	0	0	0	0.069288	0	18	34		
RHBDL2	54933	broad.mit.edu	37	1	39384795	39384795	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:39384795C>T	ENST00000289248.2	-	2	1098	c.90G>A	c.(88-90)atG>atA	p.M30I	RHBDL2_ENST00000372990.1_Missense_Mutation_p.M30I|RHBDL2_ENST00000538156.1_Missense_Mutation_p.M97I|RHBDL2_ENST00000372985.3_Missense_Mutation_p.M110I|RHBDL2_ENST00000540558.1_Missense_Mutation_p.M30I|RP5-864K19.4_ENST00000433671.2_RNA			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CATCCTCTCTCATTTTCTCCT	0.488																																						uc001ccu.1		NaN																	0					0						c.(88-90)ATG>ATA		rhomboid protease 2							222.0	205.0	211.0					1																	39384795		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39384795C>T	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.90G>A	1.37:g.39384795C>T	ENSP00000289248:p.Met30Ile					RHBDL2_uc010oin.1_Missense_Mutation_p.M30I|RHBDL2_uc010oio.1_Missense_Mutation_p.M110I|RHBDL2_uc001ccv.2_Missense_Mutation_p.M30I	p.M30I	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	318	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	30					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.90G>A	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905133	0.52333	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T	0.30182	1.62;1.62;1.55;1.54	5.62	2.5	0.30297	.	2.445430	0.01270	N	0.009430	T	0.32224	0.0822	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21071	0.051;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.29458	-1.0011	10	0.20046	T	0.44	-15.7758	11.2491	0.49015	0.1335:0.6089:0.2576:0.0	.	110;97;30	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	I	30;30;97;110;30	ENSP00000362081:M30I;ENSP00000289248:M30I;ENSP00000439227:M97I;ENSP00000362076:M110I	ENSP00000289248:M30I	M	-	3	0	RHBDL2	39157382	0.002000	0.14202	0.001000	0.08648	0.449000	0.32228	1.688000	0.37690	0.671000	0.31185	0.561000	0.74099	ATG		0.488	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1		NM_017821		27	91	0	0	0	0.134883	0	27	91		
CYP4A22	284541	broad.mit.edu	37	1	47603168	47603168	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:47603168C>G	ENST00000371891.3	+	1	42	c.11C>G	c.(10-12)tCt>tGt	p.S4C	CYP4A22_ENST00000294337.3_Missense_Mutation_p.S4C|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.S4C	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	4						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGAGTGTCTCTGTCCTGAGC	0.597																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(10-12)TCT>TGT		cytochrome P450, family 4, subfamily A,							94.0	86.0	89.0					1																	47603168		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47603168C>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.11C>G	1.37:g.47603168C>G	ENSP00000360958:p.Ser4Cys					CYP4A22_uc009vyo.2_Missense_Mutation_p.S4C|CYP4A22_uc009vyp.2_Missense_Mutation_p.S4C	p.S4C	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			1	62	+			4					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.11C>G	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.116919	0.56505	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73897	-0.79;-0.56;-0.52	2.08	2.08	0.27032	.	1.106210	0.06879	N	0.802135	D	0.83949	0.5365	M	0.70595	2.14	0.25062	N	0.991057	D;D	0.71674	0.996;0.998	P;D	0.67231	0.867;0.95	T	0.67983	-0.5529	10	0.72032	D	0.01	.	9.5999	0.39598	0.0:1.0:0.0:0.0	.	4;4	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	C	4	ENSP00000360957:S4C;ENSP00000360958:S4C;ENSP00000294337:S4C	ENSP00000294337:S4C	S	+	2	0	CYP4A22	47375755	0.154000	0.22792	0.806000	0.32338	0.355000	0.29361	-0.050000	0.11904	1.149000	0.42402	0.411000	0.27672	TCT		0.597	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1		XM_208213		28	70	0	0	0	0.125774	0	28	70		
LRRC7	57554	broad.mit.edu	37	1	70504238	70504238	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:70504238G>A	ENST00000035383.5	+	19	2647	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	LRRC7_ENST00000310961.5_Missense_Mutation_p.E878K|LRRC7_ENST00000415775.2_Missense_Mutation_p.E157K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	873						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCATTGCCTGAAAGGAAAGA	0.458																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2617-2619)GAA>AAA		leucine rich repeat containing 7							82.0	88.0	86.0					1																	70504238		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504238G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2617G>A	1.37:g.70504238G>A	ENSP00000035383:p.Glu873Lys					LRRC7_uc009wbg.2_Missense_Mutation_p.E157K|LRRC7_uc001deq.2_Missense_Mutation_p.E114K	p.E873K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2647	+			873					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2617G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872908	0.51695	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.41065	1.01;1.08;2.18	5.92	5.92	0.95590	.	0.103138	0.64402	D	0.000003	T	0.25494	0.0620	L	0.47716	1.5	0.58432	D	0.999994	P;P;P	0.46142	0.688;0.873;0.799	B;B;B	0.41510	0.167;0.359;0.197	T	0.05632	-1.0873	10	0.10111	T	0.7	.	19.3033	0.94151	0.0:0.0:1.0:0.0	.	157;873;873	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	K	878;873;157;696	ENSP00000309245:E878K;ENSP00000035383:E873K;ENSP00000394867:E157K	ENSP00000035383:E873K	E	+	1	0	LRRC7	70276826	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.447000	0.97595	2.809000	0.96659	0.467000	0.42956	GAA		0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		35	63	0	0	0	0.139131	0	35	63		
CCDC18	343099	broad.mit.edu	37	1	93680450	93680450	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:93680450G>C	ENST00000343253.7	+	12	2145	c.1643G>C	c.(1642-1644)aGa>aCa	p.R548T	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.R667T|CCDC18_ENST00000401026.3_Missense_Mutation_p.R549T|CCDC18_ENST00000338949.4_Missense_Mutation_p.R348T			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	548										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATGGCTCACAGAACTAGTCAG	0.383																																						uc001dpq.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1999-2001)AGA>ACA		sarcoma antigen NY-SAR-41							47.0	45.0	46.0					1																	93680450		1845	4100	5945	SO:0001583	missense	343099							g.chr1:93680450G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1643G>C	1.37:g.93680450G>C	ENSP00000343377:p.Arg548Thr					CCDC18_uc009wdl.1_Missense_Mutation_p.R228T	p.R667T	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	12	2168	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	548			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2000G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.263948|4.263948	0.80358|0.80358	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|T;T;T;T;T	.|0.15487	.|2.42;2.42;2.42;2.42;2.42	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30070|0.30070	0.0753|0.0753	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.996;0.997	T|T	0.02519|0.02519	-1.1147|-1.1147	5|10	.|0.20046	.|T	.|0.44	.|.	18.6435|18.6435	0.91402|0.91402	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|548;667	.|Q5T9S5;G3V388	.|CCD18_HUMAN;.	Q|T	602|548;549;667;348;268	.|ENSP00000343377:R548T;ENSP00000383808:R549T;ENSP00000451099:R667T;ENSP00000344380:R348T;ENSP00000391151:R268T	.|ENSP00000344380:R348T	E|R	+|+	1|2	0|0	CCDC18|CCDC18	93453038|93453038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.966000|4.966000	0.63715|0.63715	2.373000|2.373000	0.80994|0.80994	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.383	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		8	14	0	0	0	0.058154	0	8	14		
PDE4DIP	9659	broad.mit.edu	37	1	144879256	144879256	+	Silent	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:144879256C>A	ENST00000369354.3	-	27	4383	c.4194G>T	c.(4192-4194)ctG>ctT	p.L1398L	PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|PDE4DIP_ENST00000530740.1_Silent_p.L1534L|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Silent_p.L1534L|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1398					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4192-4194)CTG>CTT		phosphodiesterase 4D interacting protein isoform							93.0	100.0	98.0					1																	144879256		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879256C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4194G>T	1.37:g.144879256C>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1354L|PDE4DIP_uc001elv.3_Silent_p.L405L	p.L1398L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4485	-			1398					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4194G>T	CCDS30824.1																																																																																				0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		19	102	1	0	1.00905e-13	0.049695	1.09023e-13	19	102		
PDE4DIP	9659	broad.mit.edu	37	1	144882724	144882724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:144882724G>A	ENST00000369354.3	-	24	3484	c.3295C>T	c.(3295-3297)Cag>Tag	p.Q1099*	PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q1099*|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q1236*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q1236*|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1099					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AACTCAGCCTGAAGGCTACTC	0.483			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3295-3297)CAG>TAG		phosphodiesterase 4D interacting protein isoform							273.0	257.0	262.0					1																	144882724		2203	4296	6499	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882724G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3295C>T	1.37:g.144882724G>A	ENSP00000358360:p.Gln1099*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.Q106*	p.Q1099*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3586	-			1099			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.3295C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	44	11.119686	0.99518	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	5.84	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	10.7121	0.45990	0.0993:0.0:0.9007:0.0	.	.	.	.	X	1099;1099;1236;1236	.	ENSP00000358360:Q1099X	Q	-	1	0	PDE4DIP	143594081	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.424000	0.34848	2.778000	0.95560	0.655000	0.94253	CAG		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		38	208	0	0	0	0.139131	0	38	208		
RPRD2	23248	broad.mit.edu	37	1	150444774	150444774	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:150444774G>A	ENST00000369068.4	+	11	3354	c.3350G>A	c.(3349-3351)aGa>aAa	p.R1117K	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1091K|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1117						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGGGAAATAGAGGACATGGG	0.522																																						uc009wlr.2		NaN																	0				ovary(1)	1						c.(3349-3351)AGA>AAA		Regulation of nuclear pre-mRNA domain containing							42.0	45.0	44.0					1																	150444774		1978	4149	6127	SO:0001583	missense	23248						protein binding	g.chr1:150444774G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3350G>A	1.37:g.150444774G>A	ENSP00000358064:p.Arg1117Lys					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1091K	p.R1117K	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	3551	+			1117					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3350G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974651	0.74360	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.60040	0.22;0.23	5.14	5.14	0.70334	.	0.134734	0.51477	D	0.000084	T	0.58524	0.2128	N	0.24115	0.695	0.80722	D	1	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	T	0.65022	-0.6269	10	0.87932	D	0	-10.7691	18.3966	0.90501	0.0:0.0:1.0:0.0	.	1117;1091	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	K	1091;1117	ENSP00000383785:R1091K;ENSP00000358064:R1117K	ENSP00000358064:R1117K	R	+	2	0	RPRD2	148711398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.309000	0.72825	2.659000	0.90383	0.655000	0.94253	AGA		0.522	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203		6	19	0	0	0	0.038147	0	6	19		
HORMAD1	84072	broad.mit.edu	37	1	150679139	150679139	+	Nonsense_Mutation	SNP	G	G	A	rs150156011		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:150679139G>A	ENST00000361824.2	-	10	799	c.694C>T	c.(694-696)Cga>Tga	p.R232*	HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.R152*|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.R225*|HORMAD1_ENST00000368993.2_Nonsense_Mutation_p.R232*	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	232					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTTTCCATTCGTTCTCTCTCA	0.353																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(694-696)CGA>TGA		HORMA domain containing 1		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	188.0	180.0	182.0		673,694	2.7	1.0	1	dbSNP_134	182	0,8598		0,0,4299	no	stop-gained,stop-gained	HORMAD1	NM_001199829.1,NM_032132.4	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	225/388,232/395	150679139	1,13003	2203	4299	6502	SO:0001587	stop_gained	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679139G>A	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.694C>T	1.37:g.150679139G>A	ENSP00000355167:p.Arg232*					HORMAD1_uc001evl.1_Nonsense_Mutation_p.R225*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.R152*	p.R232*	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	800	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		232					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Nonsense_Mutation	SNP	ENST00000361824.2	37	c.694C>T	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376366	0.82682	2.27E-4	0.0	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	.	.	.	5.72	2.73	0.32206	.	0.241348	0.41194	D	0.000938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2163	14.2405	0.65954	0.0:0.0:0.3706:0.6293	.	.	.	.	X	152;232;161;152;225;232;161;154	.	ENSP00000326489:R225X	R	-	1	2	HORMAD1	148945763	0.984000	0.35163	1.000000	0.80357	0.906000	0.53458	0.388000	0.20735	0.304000	0.22809	-0.470000	0.05040	CGA		0.353	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		18	64	0	0	0	0.076483	0	18	64		
CELF3	11189	broad.mit.edu	37	1	151678328	151678328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:151678328C>T	ENST00000290583.4	-	11	2033	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.D209N|CELF3_ENST00000290585.4_Missense_Mutation_p.D364N|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	414	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGGCTCGGTCAACAAAGACT	0.438																																						uc001eys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1240-1242)GAC>AAC		trinucleotide repeat containing 4							96.0	94.0	95.0					1																	151678328		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151678328C>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1240G>A	1.37:g.151678328C>T	ENSP00000290583:p.Asp414Asn					CELF3_uc010pdh.1_Missense_Mutation_p.D200N|CELF3_uc001eyr.2_Missense_Mutation_p.D413N|CELF3_uc009wmy.2_Missense_Mutation_p.D364N|CELF3_uc009wmx.1_Missense_Mutation_p.D413N	p.D414N	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			11	2034	-			414			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1240G>A	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	31	5.100196	0.94245	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706	T;T;T	0.45668	1.93;1.93;0.89	5.02	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.62154	1.92	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.988;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.954;0.999;0.994;0.998;0.999	T	0.53809	-0.8386	10	0.87932	D	0	-9.9141	11.6751	0.51425	0.0:0.9112:0.0:0.0888	.	209;364;413;414;413	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	N	364;414;209	ENSP00000290585:D364N;ENSP00000290583:D414N;ENSP00000376470:D209N	ENSP00000290583:D414N	D	-	1	0	CELF3	149944952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.927000	0.70080	2.608000	0.88229	0.462000	0.41574	GAC		0.438	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2		NM_007185		13	30	0	0	0	0.132662	0	13	30		
TCHH	7062	broad.mit.edu	37	1	152080269	152080269	+	Silent	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:152080269T>C	ENST00000368804.1	-	2	5423	c.5424A>G	c.(5422-5424)gaA>gaG	p.E1808E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1808	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTTCTTCCCTCTCCT	0.597																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5422-5424)GAA>GAG		trichohyalin							78.0	79.0	78.0					1																	152080269		2010	4183	6193	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080269T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5424A>G	1.37:g.152080269T>C						TCHH_uc009wne.1_Silent_p.E1808E	p.E1808E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5424	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1808			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.5424A>G	CCDS41396.1																																																																																				0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		3	72	0	0	0	0.009096	0	3	72		
IL6R	3570	broad.mit.edu	37	1	154420627	154420627	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:154420627G>A	ENST00000368485.3	+	7	1413	c.976G>A	c.(976-978)Gag>Aag	p.E326K	IL6R_ENST00000344086.4_Missense_Mutation_p.E326K|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	326					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	AGCTGAGAACGAGGTGTCCAC	0.547																																						uc001fez.1		NaN																	0				ovary(3)|breast(1)	4						c.(976-978)GAG>AAG		interleukin 6 receptor isoform 1 precursor							108.0	107.0	108.0					1																	154420627		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154420627G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.976G>A	1.37:g.154420627G>A	ENSP00000357470:p.Glu326Lys					IL6R_uc001ffa.1_Missense_Mutation_p.E326K	p.E326K	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1413	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		326			Extracellular (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.976G>A	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	3.390	-0.124551	0.06795	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	T;T	0.19394	2.28;2.15	3.96	-2.7	0.06004	.	7.107630	0.00702	N	0.000792	T	0.04048	0.0113	L	0.43152	1.355	0.09310	N	1	B;B	0.20780	0.048;0.006	B;B	0.11329	0.006;0.003	T	0.21484	-1.0244	10	0.13108	T	0.6	2.0758	1.7491	0.02968	0.312:0.3648:0.2046:0.1186	.	326;326	P08887-2;P08887	.;IL6RA_HUMAN	K	326	ENSP00000357470:E326K;ENSP00000340589:E326K	ENSP00000340589:E326K	E	+	1	0	IL6R	152687251	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.416000	0.07097	-0.552000	0.06167	-0.150000	0.13652	GAG		0.547	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1		NM_000565		38	64	0	0	0	0.139131	0	38	64		
RXRG	6258	broad.mit.edu	37	1	165398029	165398029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:165398029G>T	ENST00000359842.5	-	2	526	c.224C>A	c.(223-225)tCt>tAt	p.S75Y		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	75	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GCCCATGGCAGAGGTGATGAC	0.602																																						uc001gda.2		NaN																	0					0						c.(223-225)TCT>TAT		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						57.0	62.0	60.0					1																	165398029		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398029G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.224C>A	1.37:g.165398029G>T	ENSP00000352900:p.Ser75Tyr						p.S75Y	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	524	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		75			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.224C>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446930	0.84101	.	.	ENSG00000143171	ENST00000359842	D	0.93076	-3.16	4.71	4.71	0.59529	.	0.061547	0.64402	D	0.000002	D	0.95674	0.8593	M	0.76838	2.35	0.51482	D	0.999923	D	0.65815	0.995	D	0.63283	0.913	D	0.96120	0.9084	9	0.87932	D	0	.	16.4144	0.83729	0.0:0.0:1.0:0.0	.	75	P48443	RXRG_HUMAN	Y	75	ENSP00000352900:S75Y	ENSP00000352900:S75Y	S	-	2	0	RXRG	163664653	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.702000	0.84576	2.436000	0.82500	0.561000	0.74099	TCT		0.602	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917		18	28	1	0	4.63292e-17	0.049695	5.06389e-17	18	28		
C1orf116	79098	broad.mit.edu	37	1	207196604	207196604	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:207196604C>T	ENST00000359470.5	-	4	754	c.505G>A	c.(505-507)Gag>Aag	p.E169K	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	169						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGTTCTTTCTCAGGCTCTGGC	0.602																																						uc001hfd.2		NaN																	0		p.E169E(1)		skin(2)|ovary(1)|central_nervous_system(1)	4						c.(505-507)GAG>AAG		specifically androgen-regulated protein isoform							57.0	60.0	59.0					1																	207196604		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207196604C>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.505G>A	1.37:g.207196604C>T	ENSP00000352447:p.Glu169Lys					C1orf116_uc009xcb.1_5'UTR	p.E169K	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	764	-	Prostate(682;0.19)		169					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.505G>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	6.061	0.379638	0.11466	.	.	ENSG00000182795	ENST00000359470	T	0.08193	3.12	4.43	-2.36	0.06663	.	1.609100	0.03119	N	0.163530	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	0.999994	B	0.16396	0.017	B	0.10450	0.005	T	0.37798	-0.9690	10	0.21540	T	0.41	-1.299	5.272	0.15630	0.0:0.4398:0.1423:0.4179	.	169	Q9BW04	SARG_HUMAN	K	169	ENSP00000352447:E169K	ENSP00000352447:E169K	E	-	1	0	C1orf116	205263227	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.408000	0.07169	-0.793000	0.04475	0.655000	0.94253	GAG		0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1		NM_024115		25	33	0	0	0	0.083992	0	25	33		
ARID4B	51742	broad.mit.edu	37	1	235331917	235331917	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:235331917C>T	ENST00000264183.3	-	24	4359	c.3862G>A	c.(3862-3864)Gct>Act	p.A1288T	ARID4B_ENST00000349213.3_Missense_Mutation_p.A1202T|ARID4B_ENST00000366603.2_Missense_Mutation_p.A1288T|ARID4B-IT1_ENST00000357671.6_RNA	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1288	Ser-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATAACAGCAGCTGTTATGGAA	0.428																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(3862-3864)GCT>ACT		AT rich interactive domain 4B isoform 1							106.0	87.0	94.0					1																	235331917		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235331917C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3862G>A	1.37:g.235331917C>T	ENSP00000264183:p.Ala1288Thr					ARID4B_uc001hwr.2_Missense_Mutation_p.A1202T|ARID4B_uc001hwp.2_RNA	p.A1288T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		24	4360	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1288			Ser-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3862G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878210	0.72294	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.35973	1.28;1.32;1.32	4.96	4.96	0.65561	.	0.059028	0.64402	D	0.000002	T	0.48241	0.1489	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.991;0.994	T	0.53690	-0.8403	10	0.87932	D	0	-15.6944	18.4402	0.90664	0.0:1.0:0.0:0.0	.	1202;1288	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	T	1202;1288;1288	ENSP00000264184:A1202T;ENSP00000355562:A1288T;ENSP00000264183:A1288T	ENSP00000264183:A1288T	A	-	1	0	ARID4B	233398540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.636000	0.74299	2.579000	0.87056	0.557000	0.71058	GCT		0.428	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		14	28	0	0	0	0.146539	0	14	28		
ZNF695	57116	broad.mit.edu	37	1	247151490	247151490	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:247151490C>T	ENST00000339986.7	-	4	474	c.327G>A	c.(325-327)gtG>gtA	p.V109V	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Silent_p.V109V	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	109					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCAGCATCACTTTTTGGA	0.373																																						uc009xgu.2		NaN																	0					0						c.(325-327)GTG>GTA		zinc finger protein SBZF3							125.0	120.0	121.0					1																	247151490		1865	4108	5973	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151490C>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.327G>A	1.37:g.247151490C>T						ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.V109V|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Silent_p.V97V	p.V109V	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	472	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	109					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.327G>A	CCDS44344.1																																																																																				0.373	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5		NM_020394		27	54	0	0	0	0.0918	0	27	54		
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(955-957)CCA>GCA		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala						p.P319A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		3	75	0	0	0	0.014758	0	3	75		
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						uc001iza.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1057-1059)GCA>CCA		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro						p.A353P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		4	69	0	0	0	0.021553	0	4	69		
GDF2	2658	broad.mit.edu	37	10	48414156	48414156	+	Missense_Mutation	SNP	C	C	T	rs137873272		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:48414156C>T	ENST00000249598.1	-	2	871	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	238					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCAGCGTGTCGCAGCCCTTC	0.577																																						uc001jfa.1		NaN																	0				ovary(2)|skin(1)	3						c.(712-714)GAC>AAC		growth differentiation factor 2 precursor		C	ASN/ASP	0,4406		0,0,2203	79.0	77.0	78.0		712	4.0	0.4	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	GDF2	NM_016204.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	238/430	48414156	1,13005	2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414156C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.712G>A	10.37:g.48414156C>T	ENSP00000249598:p.Asp238Asn						p.D238N	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	875	-			238					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.712G>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965700	0.18583	0.0	1.16E-4	ENSG00000128802	ENST00000249598	T	0.64618	-0.11	5.84	3.98	0.46160	Transforming growth factor-beta, N-terminal (1);	0.311519	0.39274	N	0.001410	T	0.56156	0.1966	M	0.62723	1.935	0.33917	D	0.640446	B	0.26081	0.141	B	0.22880	0.042	T	0.61352	-0.7080	10	0.30078	T	0.28	.	10.9172	0.47144	0.0:0.7992:0.1305:0.0703	.	238	Q9UK05	GDF2_HUMAN	N	238	ENSP00000249598:D238N	ENSP00000249598:D238N	D	-	1	0	GDF2	48034162	0.592000	0.26832	0.361000	0.25849	0.159000	0.22180	2.398000	0.44486	0.801000	0.34066	-0.229000	0.12294	GAC		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		14	21	0	0	0	0.146539	0	14	21		
OGDHL	55753	broad.mit.edu	37	10	50952768	50952768	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:50952768C>T	ENST00000374103.4	-	13	1745	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	OGDHL_ENST00000432695.1_Missense_Mutation_p.E345K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E497K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	554					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TAAGCCTCCTCACAGATCCGG	0.542																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(1660-1662)GAG>AAG		oxoglutarate dehydrogenase-like isoform a							122.0	117.0	119.0					10																	50952768		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952768C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1660G>A	10.37:g.50952768C>T	ENSP00000363216:p.Glu554Lys					OGDHL_uc009xog.2_Missense_Mutation_p.E581K|OGDHL_uc010qgt.1_Missense_Mutation_p.E497K|OGDHL_uc010qgu.1_Missense_Mutation_p.E345K|OGDHL_uc009xoh.2_Missense_Mutation_p.E345K	p.E554K	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			13	1802	-			554					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1660G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687610	0.96784	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.96104	2.42;2.42;-3.91	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.76002	2.32	0.80722	D	1	P;B;P	0.45902	0.84;0.225;0.868	P;B;P	0.52758	0.465;0.233;0.708	D	0.96986	0.9718	10	0.72032	D	0.01	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	497;345;554	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	K	554;497;345	ENSP00000363216:E554K;ENSP00000401356:E497K;ENSP00000390240:E345K	ENSP00000363216:E554K	E	-	1	0	OGDHL	50622774	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAG		0.542	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		21	40	0	0	0	0.0918	0	21	40		
TET1	80312	broad.mit.edu	37	10	70446167	70446167	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:70446167G>A	ENST00000373644.4	+	11	5316	c.5107G>A	c.(5107-5109)Gag>Aag	p.E1703K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1703					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCCTCAAGATGAGCAGCTCCA	0.453																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5107-5109)GAG>AAG		CXXC finger 6							77.0	74.0	75.0					10																	70446167		2202	4299	6501	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446167G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5107G>A	10.37:g.70446167G>A	ENSP00000362748:p.Glu1703Lys						p.E1703K	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5612	+			1703					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5107G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446392	0.84101	.	.	ENSG00000138336	ENST00000373644	T	0.15139	2.45	5.26	5.26	0.73747	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.114632	0.64402	D	0.000008	T	0.35913	0.0948	M	0.78049	2.395	0.48185	D	0.999603	B	0.30439	0.279	B	0.42555	0.391	T	0.26467	-1.0102	10	0.87932	D	0	.	18.9132	0.92494	0.0:0.0:1.0:0.0	.	1703	Q8NFU7	TET1_HUMAN	K	1703	ENSP00000362748:E1703K	ENSP00000362748:E1703K	E	+	1	0	TET1	70116173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.482000	0.83794	0.549000	0.68633	GAG		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		22	53	0	0	0	0.099896	0	22	53		
HKDC1	80201	broad.mit.edu	37	10	71008378	71008378	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:71008378G>A	ENST00000354624.5	+	10	1597	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	HKDC1_ENST00000395086.2_Silent_p.Q488Q|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	488	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGACGTGCAGGCCAAGATGC	0.667																																						uc001jpf.3		NaN																	0				ovary(4)|skin(1)	5						c.(1462-1464)CAG>CAA		hexokinase domain containing 1							40.0	41.0	41.0					10																	71008378		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008378G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1464G>A	10.37:g.71008378G>A						HKDC1_uc010qje.1_Silent_p.Q351Q	p.Q488Q	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			10	1597	+			488					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.1464G>A	CCDS7288.1																																																																																				0.667	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1		NM_025130		9	15	0	0	0	0.069234	0	9	15		
FGF8	2253	broad.mit.edu	37	10	103534601	103534601	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:103534601G>C	ENST00000344255.3	-	4	191	c.192C>G	c.(190-192)ctC>ctG	p.L64L	FGF8_ENST00000347978.2_Silent_p.L46L|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.L35L|FGF8_ENST00000320185.2_Silent_p.L75L			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	64					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GGCGGCGGCTGAGCTGATCCG	0.542																																						uc001ktp.1		NaN																	0					0						c.(190-192)CTC>CTG		fibroblast growth factor 8 isoform E precursor							79.0	79.0	79.0					10																	103534601		2203	4300	6503	SO:0001819	synonymous_variant	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103534601G>C	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.192C>G	10.37:g.103534601G>C						FGF8_uc001ktq.1_Silent_p.L75L|FGF8_uc001ktr.1_Silent_p.L46L|FGF8_uc001kts.1_Silent_p.L35L|FGF8_uc009xwr.1_5'UTR	p.L64L	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	362	-		Colorectal(252;0.122)	64					A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	37	c.192C>G	CCDS7517.1																																																																																				0.542	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1		NM_006119, NM_033165		10	19	0	0	0	0.069234	0	10	19		
CFAP43	80217	broad.mit.edu	37	10	105903255	105903255	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:105903255C>T	ENST00000357060.3	-	32	4202	c.4087G>A	c.(4087-4089)Gaa>Aaa	p.E1363K	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Missense_Mutation_p.E1335K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAAGCCTTCTGGCATGTTA	0.383																																						uc001kxw.2		NaN																	0					0						c.(4087-4089)GAA>AAA		hypothetical protein LOC80217							136.0	128.0	131.0					10																	105903255		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105903255C>T																												ENST00000357060.3:c.4087G>A	10.37:g.105903255C>T	ENSP00000349568:p.Glu1363Lys					C10orf79_uc009xxq.2_Missense_Mutation_p.E642K	p.E1363K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	32	4203	-		Colorectal(252;0.178)	1363						Missense_Mutation	SNP	ENST00000357060.3	37	c.4087G>A	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561810	0.65538	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.16324	2.35;2.41	5.88	4.98	0.66077	.	0.374089	0.30723	N	0.009018	T	0.20455	0.0492	M	0.63428	1.95	0.39351	D	0.965753	B;P	0.41008	0.371;0.735	B;B	0.42882	0.295;0.401	T	0.06285	-1.0835	10	0.14656	T	0.56	.	11.4627	0.50219	0.0:0.8032:0.1278:0.069	.	1335;1363	G5E9L1;Q8NDM7	.;WDR96_HUMAN	K	1363;1335	ENSP00000349568:E1363K;ENSP00000400289:E1335K	ENSP00000349568:E1363K	E	-	1	0	WDR96	105893245	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.273000	0.43381	1.492000	0.48499	0.555000	0.69702	GAA		0.383	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					22	53	0	0	0	0.108266	0	22	53		
SORCS3	22986	broad.mit.edu	37	10	106960946	106960946	+	Silent	SNP	G	G	A	rs369535493		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:106960946G>A	ENST00000369701.3	+	16	2423	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	SORCS3_ENST00000369699.4_Silent_p.L18L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	732					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTGTGCCCTGGGCCGAGACC	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2194-2196)CTG>CTA		VPS10 domain receptor protein SORCS 3 precursor		G		1,4405	2.1+/-5.4	0,1,2202	124.0	108.0	113.0		2196	0.6	1.0	10		113	0,8600		0,0,4300	no	coding-synonymous	SORCS3	NM_014978.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		732/1223	106960946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960946G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2196G>A	10.37:g.106960946G>A						SORCS3_uc010qqz.1_RNA	p.L732L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2423	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	732			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2196G>A	CCDS7558.1																																																																																				0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		22	45	0	0	0	0.0918	0	22	45		
SORCS1	114815	broad.mit.edu	37	10	108371675	108371675	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:108371675C>T	ENST00000263054.6	-	22	3034	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000344440.6_Silent_p.L1009L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1009					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCACTTCCACCAGGGATTTTT	0.483																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(3025-3027)CTG>CTA		SORCS receptor 1 isoform a							102.0	91.0	95.0					10																	108371675		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108371675C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3027G>A	10.37:g.108371675C>T						SORCS1_uc001kyl.2_Silent_p.L1009L|SORCS1_uc009xxs.2_Silent_p.L1009L|SORCS1_uc001kyn.1_Silent_p.L1009L|SORCS1_uc001kyo.2_Silent_p.L1009L	p.L1009L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	22	3035	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1009			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.3027G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086113	0.20390	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0036	8.218	0.31524	0.0:0.7272:0.1398:0.133	.	.	.	.	X	24	.	.	W	-	2	0	SORCS1	108361665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.764000	0.38471	2.687000	0.91594	0.655000	0.94253	TGG		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		6	23	0	0	0	0.02938	0	6	23		
SORCS1	114815	broad.mit.edu	37	10	108923757	108923757	+	Silent	SNP	G	G	T	rs199912850		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:108923757G>T	ENST00000263054.6	-	1	535	c.528C>A	c.(526-528)gcC>gcA	p.A176A	SORCS1_ENST00000344440.6_Silent_p.A176A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	176					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTGGACCATGGCTTGGTTGT	0.582																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(526-528)GCC>GCA		SORCS receptor 1 isoform a							72.0	63.0	66.0					10																	108923757		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923757G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.528C>A	10.37:g.108923757G>T						SORCS1_uc001kyl.2_Silent_p.A176A|SORCS1_uc009xxs.2_Silent_p.A176A|SORCS1_uc001kyn.1_Silent_p.A176A|SORCS1_uc001kyo.2_Silent_p.A176A	p.A176A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	536	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	176			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.528C>A	CCDS7559.1																																																																																				0.582	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		19	36	1	0	2.89027e-11	0.069288	3.09907e-11	19	36		
SMC3	9126	broad.mit.edu	37	10	112349666	112349666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:112349666G>A	ENST00000361804.4	+	15	1552	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	476					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGGAGAGAAGAGAATGCAGA	0.358																																						uc001kze.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1426-1428)GAG>AAG		structural maintenance of chromosomes 3							84.0	87.0	86.0					10																	112349666		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112349666G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1426G>A	10.37:g.112349666G>A	ENSP00000354720:p.Glu476Lys						p.E476K	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	15	1552	+		Breast(234;0.0848)|Lung NSC(174;0.238)	476			Potential.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1426G>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474603	0.96291	.	.	ENSG00000108055	ENST00000361804	T	0.77489	-1.1	5.97	5.97	0.96955	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.88385	0.3004	10	0.29301	T	0.29	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	476	Q9UQE7	SMC3_HUMAN	K	476	ENSP00000354720:E476K	ENSP00000354720:E476K	E	+	1	0	SMC3	112339656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.833000	0.97629	0.585000	0.79938	GAG		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445		22	41	0	0	0	0.144211	0	22	41		
WDR11	55717	broad.mit.edu	37	10	122648591	122648591	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:122648591G>A	ENST00000263461.6	+	17	2369	c.2123G>A	c.(2122-2124)gGa>gAa	p.G708E	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTCTAGGGAAGTATGGGT	0.318																																						uc010qtf.1		NaN																	0					0						c.(2122-2124)GGA>GAA		bromodomain and WD repeat domain containing 2							119.0	123.0	122.0					10																	122648591		2203	4300	6503	SO:0001630	splice_region_variant	55717					integral to membrane		g.chr10:122648591G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2122-1G>A	10.37:g.122648591G>A						WDR11_uc010qte.1_Missense_Mutation_p.G310E|WDR11_uc001lfd.1_Missense_Mutation_p.G226E|WDR11_uc009xzn.2_5'UTR	p.G708E	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			17	2361	+			708			WD 6.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2123G>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565275	0.86439	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.988	D;D;P	0.68765	0.96;0.96;0.737	D	0.94684	0.7868	10	0.59425	D	0.04	-21.8839	20.2985	0.98592	0.0:0.0:1.0:0.0	.	708;708;237	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	E	708	ENSP00000263461:G708E	ENSP00000263461:G708E	G	+	2	0	WDR11	122638581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.405000	0.97313	2.793000	0.96121	0.655000	0.94253	GGA		0.318	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			Missense_Mutation	30	57	0	0	0	0.069456	0	30	57		
CFAP46	54777	broad.mit.edu	37	10	134750515	134750515	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:134750515C>G	ENST00000368586.5	-	7	805	c.705G>C	c.(703-705)aaG>aaC	p.K235N	TTC40_ENST00000368582.2_Missense_Mutation_p.K235N|TTC40_ENST00000368585.3_Missense_Mutation_p.K235N	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGAATTTTTCTTTTCTTCCT	0.378																																						uc001llt.1		NaN																	0				pancreas(1)	1						c.(703-705)AAG>AAC		hypothetical protein LOC255352							61.0	60.0	60.0					10																	134750515		2201	4298	6499	SO:0001583	missense	255352						binding	g.chr10:134750515C>G																												ENST00000368586.5:c.705G>C	10.37:g.134750515C>G	ENSP00000357575:p.Lys235Asn						p.K235N	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)	7	781	-		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)	235						Missense_Mutation	SNP	ENST00000368586.5	37	c.705G>C	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	6.094	0.385689	0.11524	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83250	-1.7;-1.7;-1.7	3.74	3.74	0.42951	.	0.790343	0.10685	U	0.645908	T	0.79839	0.4515	L	0.57536	1.79	0.09310	N	0.999999	P	0.37276	0.589	B	0.35813	0.211	T	0.70313	-0.4906	10	0.40728	T	0.16	.	11.7676	0.51939	0.0:1.0:0.0:0.0	.	235	Q5SR76-1	.	N	235	ENSP00000357575:K235N;ENSP00000357571:K235N;ENSP00000357574:K235N	ENSP00000357571:K235N	K	-	3	2	C10orf93	134600505	0.000000	0.05858	0.056000	0.19401	0.311000	0.27955	0.224000	0.17738	2.023000	0.59567	0.563000	0.77884	AAG		0.378	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3				4	13	0	0	0	0.014758	0	4	13		
DKK3	27122	broad.mit.edu	37	11	11986170	11986170	+	Silent	SNP	G	G	A	rs369574898		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:11986170G>A	ENST00000396505.2	-	8	1132	c.894C>T	c.(892-894)atC>atT	p.I298I	DKK3_ENST00000326932.4_Silent_p.I298I|DKK3_ENST00000525493.1_Silent_p.I312I|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Silent_p.I270I	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	298					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGGGCAGCAGGATCTCCCCAT	0.597																																						uc001mju.2		NaN																	0				breast(1)	1						c.(892-894)ATC>ATT		dickkopf homolog 3 precursor		G	,,	1,4401	2.1+/-5.4	0,1,2200	60.0	62.0	61.0		894,894,894	5.5	1.0	11		61	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	DKK3	NM_001018057.1,NM_013253.4,NM_015881.5	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	298/351,298/351,298/351	11986170	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11986170G>A	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.894C>T	11.37:g.11986170G>A						DKK3_uc010rcf.1_Silent_p.I270I|DKK3_uc001mjv.2_Silent_p.I298I|DKK3_uc001mjw.2_Silent_p.I298I|DKK3_uc010rcg.1_Silent_p.I312I	p.I298I	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	7	951	-			298					A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	c.894C>T	CCDS7808.1																																																																																				0.597	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1		NM_013253		19	13	0	0	0	0.055883	0	19	13		
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:57135555C>T	ENST00000263314.2	+	9	949	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	305					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCATCCGCTTCGACGTGCTGG	0.567																																						uc001nju.2		NaN																	0					0						c.(913-915)TTC>TTT		purinergic receptor P2X3		C		2,4400	4.2+/-10.8	0,2,2199	87.0	82.0	84.0		915	-4.0	1.0	11	dbSNP_134	84	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	P2RX3	NM_002559.3		0,3,6494	TT,TC,CC		0.0116,0.0454,0.0231		305/398	57135555	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57135555C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.915C>T	11.37:g.57135555C>T							p.F305F	NM_002559	NP_002550	P56373	P2RX3_HUMAN			9	991	+			305			Extracellular (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.915C>T	CCDS7953.1																																																																																				0.567	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559		12	76	0	0	0	0.0333	0	12	76		
SLC43A3	29015	broad.mit.edu	37	11	57188794	57188794	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:57188794G>A	ENST00000395123.2	-	6	718	c.414C>T	c.(412-414)atC>atT	p.I138I	SLC43A3_ENST00000395124.1_Silent_p.I138I|SLC43A3_ENST00000352187.1_Silent_p.I138I|SLC43A3_ENST00000529554.1_Silent_p.I138I|SLC43A3_ENST00000533524.1_Silent_p.I151I|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	138					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.I138I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TGAGAAACAGGATTCCCCCAA	0.562																																						uc001nkg.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)	1						c.(412-414)ATC>ATT		solute carrier family 43, member 3							76.0	74.0	75.0					11																	57188794		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57188794G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.414C>T	11.37:g.57188794G>A						PRG2_uc001nke.2_Silent_p.I37I|SLC43A3_uc001nkh.2_Silent_p.I138I|SLC43A3_uc010rjr.1_Silent_p.I151I|SLC43A3_uc009yme.2_Silent_p.I138I|SLC43A3_uc001nki.2_Silent_p.I138I|SLC43A3_uc009ymf.1_Silent_p.I138I|SLC43A3_uc010rjs.1_Silent_p.I138I|SLC43A3_uc009ymg.1_Silent_p.I151I	p.I138I	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			6	824	-			138			Helical; (Potential).		B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.414C>T	CCDS7956.1																																																																																				0.562	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1		NM_017611		16	24	0	0	0	0.0333	0	16	24		
AHNAK	79026	broad.mit.edu	37	11	62297946	62297946	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:62297946C>T	ENST00000378024.4	-	5	4217	c.3943G>A	c.(3943-3945)Gag>Aag	p.E1315K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1315					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E1315Q(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGCATCTCAGGCATCTTA	0.522																																						uc001ntl.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3943-3945)GAG>AAG		AHNAK nucleoprotein isoform 1							157.0	164.0	161.0					11																	62297946		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297946C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3943G>A	11.37:g.62297946C>T	ENSP00000367263:p.Glu1315Lys					AHNAK_uc001ntk.1_Intron	p.E1315K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4243	-		Melanoma(852;0.155)	1315					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3943G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	6.951	0.545272	0.13312	.	.	ENSG00000124942	ENST00000378024	T	0.03004	4.08	4.51	4.51	0.55191	.	0.540328	0.13680	U	0.370221	T	0.04907	0.0132	L	0.45422	1.42	0.09310	N	1	B	0.24675	0.109	B	0.32624	0.149	T	0.40961	-0.9535	10	0.09084	T	0.74	.	12.3738	0.55269	0.1687:0.8313:0.0:0.0	.	1315	Q09666	AHNK_HUMAN	K	1315	ENSP00000367263:E1315K	ENSP00000367263:E1315K	E	-	1	0	AHNAK	62054522	0.228000	0.23718	0.568000	0.28447	0.813000	0.45954	0.878000	0.28126	2.228000	0.72767	0.645000	0.84053	GAG		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		8	186	0	0	0	0.047766	0	8	186		
POLD3	10714	broad.mit.edu	37	11	74340342	74340342	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:74340342C>G	ENST00000263681.2	+	9	1109	c.980C>G	c.(979-981)cCt>cGt	p.P327R	POLD3_ENST00000527458.1_Missense_Mutation_p.P288R|POLD3_ENST00000532497.1_Missense_Mutation_p.P221R	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	327					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ATCAAACTTCCTGAATCTGAT	0.388																																						uc001ovf.1		NaN																	0				kidney(2)|ovary(1)	3						c.(979-981)CCT>CGT		DNA-directed DNA polymerase delta 3							130.0	126.0	128.0					11																	74340342		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74340342C>G	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.980C>G	11.37:g.74340342C>G	ENSP00000263681:p.Pro327Arg					POLD3_uc009yua.1_Missense_Mutation_p.P221R	p.P327R	NM_006591	NP_006582	Q15054	DPOD3_HUMAN			9	1055	+	Breast(11;3.21e-06)		327					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.980C>G	CCDS8233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915945|3.915945	0.73098|0.73098	.|.	.|.	ENSG00000077514|ENSG00000077514	ENST00000524752|ENST00000263681;ENST00000527458;ENST00000532497	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.099386	.|0.64402	.|D	.|0.000001	T|T	0.76062|0.76062	0.3935|0.3935	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.76494	.|0.999	.|D	.|0.71184	.|0.972	T|T	0.71682|0.71682	-0.4519|-0.4519	5|9	.|0.23302	.|T	.|0.38	-29.4714|-29.4714	15.3929|15.3929	0.74760|0.74760	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|327	.|Q15054	.|DPOD3_HUMAN	V|R	51|327;288;221	.|.	.|ENSP00000263681:P327R	L|P	+|+	1|2	2|0	POLD3|POLD3	74017990|74017990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.788000|2.788000	0.47806|0.47806	2.713000|2.713000	0.92767|0.92767	0.591000|0.591000	0.81541|0.81541	CTG|CCT		0.388	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1		NM_006591		4	72	0	0	0	0.014758	0	4	72		
FOLH1B	219595	broad.mit.edu	37	11	89405073	89405073	+	RNA	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:89405073G>A	ENST00000532352.1	+	0	1013							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTCATTCTGGGAGGTCACCGG	0.408																																						uc001pda.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(199-201)GGA>GAA		folate hydrolase 1B							115.0	109.0	111.0					11																	89405073		2201	4296	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405073G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405073G>A							p.G67E	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			5	726	+			67						Missense_Mutation	SNP	ENST00000532352.1	37	c.200G>A																																																																																					0.408	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1		NM_153696		17	60	0	0	0	0.045705	0	17	60		
UBE4A	9354	broad.mit.edu	37	11	118257262	118257262	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:118257262A>G	ENST00000431736.2	+	16	2615	c.2543A>G	c.(2542-2544)cAg>cGg	p.Q848R	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q313R|UBE4A_ENST00000252108.3_Missense_Mutation_p.Q841R					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGTTTGGACAGCTGGCACGT	0.468																																						uc001psw.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(2521-2523)CAG>CGG		ubiquitination factor E4A							160.0	166.0	164.0					11																	118257262		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118257262A>G	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2543A>G	11.37:g.118257262A>G	ENSP00000387362:p.Gln848Arg					UBE4A_uc001psv.2_Missense_Mutation_p.Q848R	p.Q841R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	16	2651	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	841						Missense_Mutation	SNP	ENST00000431736.2	37	c.2522A>G	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.985236	0.93044	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.41065	1.01;1.01;1.01	5.67	5.67	0.87782	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.28556	0.865	0.80722	D	1	B;B	0.29136	0.145;0.234	B;B	0.20955	0.032;0.028	T	0.11542	-1.0583	10	0.02654	T	1	-11.4703	15.9141	0.79496	1.0:0.0:0.0:0.0	.	841;848	Q14139;Q14139-2	UBE4A_HUMAN;.	R	841;848;313	ENSP00000252108:Q841R;ENSP00000387362:Q848R;ENSP00000438918:Q313R	ENSP00000252108:Q841R	Q	+	2	0	UBE4A	117762472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.154000	0.67381	0.533000	0.62120	CAG		0.468	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1		NM_004788		48	154	0	0	0	0.139131	0	48	154		
CDON	50937	broad.mit.edu	37	11	125889642	125889642	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:125889642G>A	ENST00000392693.3	-	4	495	c.368C>T	c.(367-369)tCa>tTa	p.S123L	CDON_ENST00000263577.7_Missense_Mutation_p.S123L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	123	Ig-like C2-type 2.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTTGTGGATGAACCAAAATC	0.353																																						uc009zbw.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(367-369)TCA>TTA		surface glycoprotein, Ig superfamily member							52.0	53.0	52.0					11																	125889642		2200	4299	6499	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125889642G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.368C>T	11.37:g.125889642G>A	ENSP00000376458:p.Ser123Leu					CDON_uc001qdc.3_Missense_Mutation_p.S123L|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.S123L	p.S123L	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	4	496	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	123			Extracellular (Potential).|Ig-like C2-type 2.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.368C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670341	0.47677	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967	T;T;T;T	0.69561	-0.39;-0.41;0.14;-0.25	5.46	4.56	0.56223	.	0.481200	0.17618	N	0.167831	T	0.54191	0.1843	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33883	0.222;0.43;0.377	B;B;B	0.34590	0.058;0.186;0.117	T	0.47649	-0.9101	10	0.35671	T	0.21	-6.0013	14.5258	0.67887	0.0705:0.0:0.9295:0.0	.	123;123;123	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	L	123	ENSP00000376458:S123L;ENSP00000263577:S123L;ENSP00000434212:S123L;ENSP00000436940:S123L	ENSP00000263577:S123L	S	-	2	0	CDON	125394852	0.300000	0.24435	0.307000	0.25127	0.996000	0.88848	3.330000	0.52068	1.434000	0.47414	-0.136000	0.14681	TCA		0.353	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952		13	30	0	0	0	0.132662	0	13	30		
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Intron	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:11506602T>C	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607																																						uc001qzw.1		NaN																	0					0						c.(433-435)GGA>GGG		proline-rich protein BstNI subfamily 1 isoform 1							11.0	7.0	9.0					12																	11506602		1228	2194	3422	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506602T>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+121A>G	12.37:g.11506602T>C						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.G145G	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	472	-			206		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.435A>G	CCDS8642.1																																																																																				0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039		10	218	0	0	0	0.09319	0	10	218		
ATF7IP	55729	broad.mit.edu	37	12	14649244	14649244	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:14649244C>T	ENST00000540793.1	+	13	3515	c.3360C>T	c.(3358-3360)ctC>ctT	p.L1120L	ATF7IP_ENST00000261168.4_Silent_p.L1120L|ATF7IP_ENST00000544627.1_Silent_p.L1128L|ATF7IP_ENST00000536444.1_Silent_p.L1119L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1120					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GACCTCAGCTCACAGTGCATC	0.393																																						uc001rbw.2		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(3358-3360)CTC>CTT		activating transcription factor 7 interacting							123.0	93.0	103.0					12																	14649244		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649244C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3360C>T	12.37:g.14649244C>T						ATF7IP_uc001rbx.2_Silent_p.L1119L|ATF7IP_uc001rby.3_Silent_p.L1120L|ATF7IP_uc001rca.2_Silent_p.L1120L	p.L1120L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			14	3518	+			1120					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3360C>T	CCDS8663.1																																																																																				0.393	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179		20	38	0	0	0	0.099896	0	20	38		
HIST4H4	121504	broad.mit.edu	37	12	14923749	14923749	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:14923749C>T	ENST00000539745.1	-	1	316	c.270G>A	c.(268-270)gcG>gcA	p.A90A	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	90					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GGCGTTTCAGCGCGTACACCA	0.582											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rcf.3		NaN																	0				ovary(2)	2						c.(268-270)GCG>GCA		histone cluster 4, H4							95.0	82.0	86.0					12																	14923749		2203	4300	6503	SO:0001819	synonymous_variant	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923749C>T	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.270G>A	12.37:g.14923749C>T			OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698	HIST4H4_uc001rce.2_RNA	p.A90A	NM_175054	NP_778224	P62805	H4_HUMAN			1	317	-			90					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	c.270G>A	CCDS8665.1																																																																																				0.582	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1		NM_175054		52	46	0	0	0	0.139131	0	52	46		
PKP2	5318	broad.mit.edu	37	12	33021978	33021978	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:33021978C>T	ENST00000070846.6	-	4	1077	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	PKP2_ENST00000340811.4_Missense_Mutation_p.M351I	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	351					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTCCAGAGTCATCTCCATGT	0.527																																						uc001rlj.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1051-1053)ATG>ATA		plakophilin 2 isoform 2b							116.0	96.0	103.0					12																	33021978		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33021978C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1053G>A	12.37:g.33021978C>T	ENSP00000070846:p.Met351Ile					PKP2_uc001rlk.3_Missense_Mutation_p.M351I|PKP2_uc010skj.1_Missense_Mutation_p.M351I	p.M351I	NM_004572	NP_004563	Q99959	PKP2_HUMAN			4	1168	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		351			ARM 1.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1053G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	c	16.17	3.046738	0.55110	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81908	-1.55;-1.52	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.057503	0.64402	D	0.000003	T	0.81819	0.4903	M	0.65498	2.005	0.43480	D	0.995705	B;B;P	0.36162	0.025;0.015;0.54	B;B;B	0.37144	0.039;0.017;0.242	T	0.80120	-0.1515	10	0.25751	T	0.34	-10.7683	16.2409	0.82408	0.0:1.0:0.0:0.0	.	351;351;351	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	I	351	ENSP00000342800:M351I;ENSP00000070846:M351I	ENSP00000070846:M351I	M	-	3	0	PKP2	32913245	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.494000	0.60347	2.350000	0.79820	0.645000	0.84053	ATG		0.527	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1		NM_004572		59	54	0	0	0	0.139131	0	59	54		
KMT2D	8085	broad.mit.edu	37	12	49435941	49435941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:49435941G>A	ENST00000301067.7	-	28	6039	c.6040C>T	c.(6040-6042)Cag>Tag	p.Q2014*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2014					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGACAGCTGGCCCAACTCC	0.577																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6040-6042)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	54.0	53.0					12																	49435941		2121	4221	6342	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435941G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6040C>T	12.37:g.49435941G>A	ENSP00000301067:p.Gln2014*	HNSCC(34;0.089)					p.Q2014*	NM_003482	NP_003473	O14686	MLL2_HUMAN			28	6040	-			2014					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.6040C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	45	11.794231	0.99604	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.36338	N	0.002643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1167	0.59303	0.0:0.2705:0.7295:0.0	.	.	.	.	X	2014	.	ENSP00000301067:Q2014X	Q	-	1	0	MLL2	47722208	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.514000	0.60482	2.686000	0.91538	0.561000	0.74099	CAG		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				11	13	0	0	0	0.105934	0	11	13		
SPRYD3	84926	broad.mit.edu	37	12	53460407	53460407	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:53460407A>T	ENST00000301463.4	-	9	1057	c.971T>A	c.(970-972)aTc>aAc	p.I324N	SPRYD3_ENST00000547837.1_Missense_Mutation_p.I361N	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	324										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACAGCCCATGATGTCCCCTTT	0.587											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sbt.1		NaN																	0				central_nervous_system(1)	1						c.(970-972)ATC>AAC		SPRY domain containing 3							135.0	113.0	120.0					12																	53460407		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460407A>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.971T>A	12.37:g.53460407A>T	ENSP00000301463:p.Ile324Asn		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	SPRYD3_uc010snw.1_Missense_Mutation_p.I150N	p.I324N	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			9	992	-			324					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.971T>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769327	0.69992	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.69806	-0.43;-0.43	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SPla/RYanodine receptor SPRY (1);	0.053394	0.64402	D	0.000001	T	0.79028	0.4377	M	0.83118	2.625	0.80722	D	1	P	0.51933	0.949	P	0.55824	0.785	T	0.82762	-0.0297	10	0.87932	D	0	.	13.2303	0.59938	1.0:0.0:0.0:0.0	.	324	Q8NCJ5	SPRY3_HUMAN	N	324;361	ENSP00000301463:I324N;ENSP00000449452:I361N	ENSP00000301463:I324N	I	-	2	0	SPRYD3	51746674	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	7.062000	0.76706	2.080000	0.62538	0.533000	0.62120	ATC		0.587	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1		NM_032840		9	19	0	0	0	0.069234	0	9	19		
PAN2	9924	broad.mit.edu	37	12	56720165	56720165	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:56720165G>C	ENST00000425394.2	-	8	1667	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V	PAN2_ENST00000257931.5_Missense_Mutation_p.L431V|PAN2_ENST00000548043.1_Missense_Mutation_p.L431V|PAN2_ENST00000440411.3_Missense_Mutation_p.L431V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ATGGTGCGCAGAATCTCTGCA	0.572																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1291-1293)CTG>GTG		PAN2 polyA specific ribonuclease subunit homolog							52.0	42.0	46.0					12																	56720165		2203	4299	6502	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720165G>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1291C>G	12.37:g.56720165G>C	ENSP00000401721:p.Leu431Val					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.L431V|PAN2_uc001sky.2_Missense_Mutation_p.L431V	p.L431V	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			8	1664	-			431						Missense_Mutation	SNP	ENST00000425394.2	37	c.1291C>G	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	g	32	5.125261	0.94429	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.31510	1.49;1.5;1.51;1.49	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.58104	0.2099	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.981;0.957	T	0.62623	-0.6815	10	0.72032	D	0.01	-8.3456	17.7666	0.88480	0.0:0.0:1.0:0.0	.	431;431;431	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	431	ENSP00000401721:L431V;ENSP00000388231:L431V;ENSP00000257931:L431V;ENSP00000449861:L431V	ENSP00000257931:L431V	L	-	1	2	PAN2	55006432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.598000	0.74122	2.562000	0.86427	0.580000	0.79431	CTG		0.572	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		4	17	0	0	0	0.021553	0	4	17		
PLXNC1	10154	broad.mit.edu	37	12	94658921	94658921	+	Missense_Mutation	SNP	G	G	A	rs541936661		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:94658921G>A	ENST00000258526.4	+	21	3766	c.3517G>A	c.(3517-3519)Gtg>Atg	p.V1173M	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V220M	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1173					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAAGGGTCCCGTGGATGTAAT	0.448																																						uc001tdc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3517-3519)GTG>ATG		plexin C1 precursor							196.0	207.0	204.0					12																	94658921		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658921G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3517G>A	12.37:g.94658921G>A	ENSP00000258526:p.Val1173Met					PLXNC1_uc010sut.1_Missense_Mutation_p.V220M|PLXNC1_uc009zsv.2_Translation_Start_Site	p.V1173M	NM_005761	NP_005752	O60486	PLXC1_HUMAN			21	3766	+			1173			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3517G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319746	0.81469	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.19250	2.16;2.16	5.71	4.81	0.61882	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055647	0.64402	D	0.000001	T	0.41604	0.1166	M	0.71296	2.17	0.80722	D	1	P;D	0.76494	0.952;0.999	P;D	0.66196	0.563;0.942	T	0.34551	-0.9824	10	0.87932	D	0	.	10.1868	0.43002	0.0707:0.1374:0.7918:0.0	.	220;1173	B4DHQ7;O60486	.;PLXC1_HUMAN	M	1173;220	ENSP00000258526:V1173M;ENSP00000446720:V220M	ENSP00000258526:V1173M	V	+	1	0	PLXNC1	93183052	1.000000	0.71417	0.138000	0.22173	0.963000	0.63663	5.821000	0.69257	1.396000	0.46663	0.462000	0.41574	GTG		0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2				109	139	0	0	0	0.139131	0	109	139		
ANO4	121601	broad.mit.edu	37	12	101442180	101442180	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:101442180G>A	ENST00000392977.3	+	14	1522		c.e14+1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCAGTCTGGGGTAAGTGTTCT	0.373										HNSCC(74;0.22)																												uc010svm.1		NaN																	0				ovary(4)|skin(2)	6						c.e14+1		anoctamin 4							126.0	125.0	125.0					12																	101442180		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101442180G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1312+1G>A	12.37:g.101442180G>A		HNSCC(74;0.22)				ANO4_uc001thw.2_Splice_Site_p.A403_splice|ANO4_uc001thx.2_Splice_Site_p.A438_splice|ANO4_uc001thy.2_Splice_Site_p.A5_splice	p.A438_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			14	1884	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37	c.1312_splice		.	.	.	.	.	.	.	.	.	.	G	21.3	4.133044	0.77662	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.438	0.94806	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	99966311	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.813000	0.99286	2.675000	0.91044	0.555000	0.69702	.		0.373	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826	Intron	13	39	0	0	0	0.038395	0	13	39		
MYBPC1	4604	broad.mit.edu	37	12	102069129	102069129	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:102069129C>G	ENST00000550270.1	+	25	2848	c.2848C>G	c.(2848-2850)Ctc>Gtc	p.L950V	MYBPC1_ENST00000360610.2_Missense_Mutation_p.L950V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L919V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L950V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L913V|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L918V|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L957V|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L906V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L957V|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L932V|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L950V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L833V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L920V|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L932V|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L963V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	950	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAATGTCGCTCTCACATGGAC	0.478																																						uc001tii.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2848-2850)CTC>GTC		myosin binding protein C, slow type isoform 3							133.0	106.0	115.0					12																	102069129		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102069129C>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2848C>G	12.37:g.102069129C>G	ENSP00000449702:p.Leu950Val					MYBPC1_uc001tig.2_Missense_Mutation_p.L957V|MYBPC1_uc010svq.1_Missense_Mutation_p.L919V|MYBPC1_uc001tih.2_Missense_Mutation_p.L957V|MYBPC1_uc001tij.2_Missense_Mutation_p.L932V|MYBPC1_uc010svr.1_Missense_Mutation_p.L932V|MYBPC1_uc010svs.1_Missense_Mutation_p.L950V|MYBPC1_uc010svt.1_Missense_Mutation_p.L920V|MYBPC1_uc010svu.1_Missense_Mutation_p.L913V|MYBPC1_uc001tik.2_Missense_Mutation_p.L906V|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.L950V	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			25	2950	+			950			Fibronectin type-III 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2848C>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945566	0.34377	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.77	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39544	N	0.001326	T	0.58235	0.2108	M	0.64404	1.975	0.53005	D	0.999962	P;D;P;D;D;P;D;D;P;P	0.71674	0.707;0.99;0.576;0.998;0.962;0.83;0.978;0.982;0.861;0.819	D;D;P;D;D;D;D;D;P;P	0.91635	0.947;0.999;0.775;0.999;0.996;0.961;0.994;0.997;0.813;0.834	T	0.60010	-0.7346	10	0.41790	T	0.15	.	3.8071	0.08782	0.0:0.6696:0.0:0.3304	.	913;920;950;932;919;906;932;950;957;957	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	V	906;950;950;950;919;918;957;963;932;932;913;920;957;833;950	ENSP00000448175:L906V;ENSP00000400908:L950V;ENSP00000388989:L950V;ENSP00000353822:L950V;ENSP00000376665:L919V;ENSP00000447362:L918V;ENSP00000354845:L957V;ENSP00000447660:L963V;ENSP00000447900:L932V;ENSP00000440034:L932V;ENSP00000446128:L913V;ENSP00000442847:L920V;ENSP00000354849:L957V;ENSP00000447116:L833V;ENSP00000449702:L950V	ENSP00000353822:L950V	L	+	1	0	MYBPC1	100593260	0.987000	0.35691	0.967000	0.41034	0.158000	0.22134	2.309000	0.43699	2.717000	0.92951	0.650000	0.86243	CTC		0.478	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				17	39	0	0	0	0.146539	0	17	39		
FREM2	341640	broad.mit.edu	37	13	39266378	39266378	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:39266378G>A	ENST00000280481.7	+	1	5113	c.4897G>A	c.(4897-4899)Gat>Aat	p.D1633N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1633					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTTTTCCTGATACGGTGTT	0.458																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4897-4899)GAT>AAT		FRAS1-related extracellular matrix protein 2							92.0	93.0	92.0					13																	39266378		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266378G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4897G>A	13.37:g.39266378G>A	ENSP00000280481:p.Asp1633Asn						p.D1633N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5206	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1633			Extracellular (Potential).|CSPG 11.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4897G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	8.786	0.929314	0.18131	.	.	ENSG00000150893	ENST00000280481	T	0.41400	1.0	5.71	3.06	0.35304	.	0.203465	0.49305	N	0.000152	T	0.32585	0.0834	L	0.39467	1.215	0.58432	D	0.999994	B	0.18610	0.029	B	0.24394	0.053	T	0.07654	-1.0761	10	0.25751	T	0.34	.	10.6717	0.45762	0.2757:0.0:0.7243:0.0	.	1633	Q5SZK8	FREM2_HUMAN	N	1633	ENSP00000280481:D1633N	ENSP00000280481:D1633N	D	+	1	0	FREM2	38164378	1.000000	0.71417	0.665000	0.29768	0.016000	0.09150	3.231000	0.51294	0.792000	0.33850	-1.012000	0.02466	GAT		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		16	42	0	0	0	0.0333	0	16	42		
GPALPP1	55425	broad.mit.edu	37	13	45580434	45580434	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:45580434C>G	ENST00000379151.4	+	3	422	c.319C>G	c.(319-321)Cca>Gca	p.P107A	GPALPP1_ENST00000361121.2_Missense_Mutation_p.P107A|GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	107																	TGATTCTCCTCCAAGGTGATA	0.328																																						uc001uzq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(319-321)CCA>GCA		hypothetical protein LOC55425							171.0	169.0	170.0					13																	45580434		2203	4300	6503	SO:0001583	missense	55425							g.chr13:45580434C>G	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.319C>G	13.37:g.45580434C>G	ENSP00000368447:p.Pro107Ala					KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.P107A|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	p.P107A	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	422	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	107					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.319C>G	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207760	0.39003	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	T;T	0.53206	0.63;0.63	4.9	4.9	0.64082	.	0.226724	0.42682	D	0.000680	T	0.40498	0.1119	L	0.49455	1.56	0.36686	D	0.879337	B	0.18610	0.029	B	0.16289	0.015	T	0.41251	-0.9519	10	0.25106	T	0.35	-8.0773	11.7797	0.52006	0.0:0.8075:0.1925:0.0	.	107	Q8IXQ4	K1704_HUMAN	A	107	ENSP00000368447:P107A;ENSP00000355211:P107A	ENSP00000355211:P107A	P	+	1	0	KIAA1704	44478434	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.581000	0.53914	2.260000	0.74910	0.655000	0.94253	CCA		0.328	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2		NM_018559		39	124	0	0	0	0.139131	0	39	124		
ATP7B	540	broad.mit.edu	37	13	52544680	52544680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:52544680C>T	ENST00000242839.4	-	3	1647	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	ATP7B_ENST00000448424.2_Missense_Mutation_p.M497I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.M465I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M497I|ATP7B_ENST00000418097.2_Missense_Mutation_p.M497I|ATP7B_ENST00000400366.3_Missense_Mutation_p.M386I|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	497	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGCACAGGTCATGCCTTTGA	0.502									Wilson disease																													uc001vfw.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1489-1491)ATG>ATA		ATPase, Cu++ transporting, beta polypeptide							200.0	198.0	199.0					13																	52544680		2057	4196	6253	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52544680C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1491G>A	13.37:g.52544680C>T	ENSP00000242839:p.Met497Ile					ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.M497I|ATP7B_uc001vfy.2_Missense_Mutation_p.M386I|ATP7B_uc010tgt.1_Missense_Mutation_p.M497I|ATP7B_uc010tgu.1_Missense_Mutation_p.M497I|ATP7B_uc010tgv.1_Missense_Mutation_p.M497I|ATP7B_uc010tgw.1_Missense_Mutation_p.M465I	p.M497I	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	3	1648	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	497			HMA 5.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1491G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154912	0.94686	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.46	5.46	0.80206	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	M	0.85542	2.76	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.989;0.985;0.999;0.999;0.993;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.978;0.938;0.994;0.958;0.99;0.999	D	0.96120	0.9084	10	0.66056	D	0.02	-38.0869	19.3074	0.94169	0.0:1.0:0.0:0.0	.	465;497;497;497;386;497;497	F6XIH0;E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	I	497;386;497;497;497;465	ENSP00000242839:M497I;ENSP00000383217:M386I;ENSP00000342559:M497I;ENSP00000416738:M497I;ENSP00000393343:M497I;ENSP00000443128:M465I	ENSP00000242839:M497I	M	-	3	0	ATP7B	51442681	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.818000	0.86416	2.561000	0.86390	0.650000	0.86243	ATG		0.502	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1		NM_000053		63	106	0	0	0	0.139131	0	63	106		
MYCBP2	23077	broad.mit.edu	37	13	77656085	77656085	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:77656085G>A	ENST00000544440.2	-	64	10983	c.10966C>T	c.(10966-10968)Cat>Tat	p.H3656Y	MYCBP2_ENST00000407578.2_Missense_Mutation_p.H3694Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3656Y|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS2_ENST00000428716.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGCTCTGATGAAGGAACTGG	0.363																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10966-10968)CAT>TAT		MYC binding protein 2							100.0	91.0	94.0					13																	77656085		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77656085G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10966C>T	13.37:g.77656085G>A	ENSP00000444596:p.His3656Tyr					MYCBP2_uc010aev.2_Missense_Mutation_p.H3060Y|MYCBP2_uc001vke.2_Missense_Mutation_p.H276Y	p.H3656Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	65	11057	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3656						Missense_Mutation	SNP	ENST00000544440.2	37	c.10966C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.727515|4.727515	0.89390|0.89390	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.63417|.	-0.04;-0.04;-0.04|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Galactose-binding domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	P|.	0.45126|.	0.851|.	P|.	0.58391|.	0.838|.	T|T	0.76926|0.76926	-0.2778|-0.2778	10|5	0.87932|.	D|.	0|.	.|.	19.0205|19.0205	0.92912|0.92912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3656|.	O75592|.	MYCB2_HUMAN|.	Y|L	3656;3694;3656|79	ENSP00000349892:H3656Y;ENSP00000384288:H3694Y;ENSP00000444596:H3656Y|.	ENSP00000349892:H3656Y|.	H|S	-|-	1|2	0|0	MYCBP2|MYCBP2	76554086|76554086	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.941000|0.941000	0.58515|0.58515	9.813000|9.813000	0.99286|0.99286	2.551000|2.551000	0.86045|0.86045	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		23	31	0	0	0	0.076483	0	23	31		
GPC6	10082	broad.mit.edu	37	13	94958333	94958333	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:94958333G>C	ENST00000377047.4	+	6	1723	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	370					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTACAATCCTGAGGAAAGACC	0.502																																						uc001vlt.2		NaN																	0					0						c.(1108-1110)GAG>CAG		glypican 6 precursor							82.0	84.0	83.0					13																	94958333		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94958333G>C	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1108G>C	13.37:g.94958333G>C	ENSP00000366246:p.Glu370Gln					GPC6_uc010tig.1_Missense_Mutation_p.E370Q	p.E370Q	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			6	1740	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	370					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1108G>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645750	0.87958	.	.	ENSG00000183098	ENST00000377047	T	0.57595	0.39	5.65	5.65	0.86999	.	0.059736	0.64402	D	0.000004	T	0.66489	0.2794	L	0.47190	1.495	0.46044	D	0.998834	D;P	0.69078	0.997;0.89	D;P	0.74023	0.982;0.714	T	0.58301	-0.7660	10	0.21014	T	0.42	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	370;370	B4E2M1;Q9Y625	.;GPC6_HUMAN	Q	370	ENSP00000366246:E370Q	ENSP00000366246:E370Q	E	+	1	0	GPC6	93756334	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.447000	0.97595	2.653000	0.90120	0.563000	0.77884	GAG		0.502	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4		NM_005708		19	34	0	0	0	0.076483	0	19	34		
RASA3	22821	broad.mit.edu	37	13	114758015	114758015	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:114758015C>T	ENST00000334062.7	-	22	2312	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	RASA3_ENST00000389544.4_Missense_Mutation_p.E699K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	731					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TAGATACGCTCCGTCTCACGG	0.527																																						uc001vui.2		NaN																	0				lung(3)|skin(1)	4						c.(2191-2193)GAG>AAG		RAS p21 protein activator 3							115.0	85.0	95.0					13																	114758015		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114758015C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2191G>A	13.37:g.114758015C>T	ENSP00000335029:p.Glu731Lys					RASA3_uc010tkk.1_Missense_Mutation_p.E699K|RASA3_uc001vuj.2_Missense_Mutation_p.E348K	p.E731K	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2322	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	731					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2191G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238106	0.79800	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.86865	-2.08;-2.18	5.05	5.05	0.67936	.	0.099698	0.64402	D	0.000002	D	0.92948	0.7756	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92674	0.6152	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	731	Q14644	RASA3_HUMAN	K	731;699	ENSP00000335029:E731K;ENSP00000374195:E699K	.	E	-	1	0	RASA3	113776117	1.000000	0.71417	0.948000	0.38648	0.062000	0.15995	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	GAG		0.527	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2		NM_007368		15	39	0	0	0	0.043863	0	15	39		
RNASE13	440163	broad.mit.edu	37	14	21502251	21502251	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:21502251G>A	ENST00000382951.3	-	2	334	c.197C>T	c.(196-198)tCa>tTa	p.S66L	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	66						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TGGGCAATCTGAATTTTGCAT	0.428																																						uc001vzj.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(196-198)TCA>TTA		ribonuclease, RNase A family, 13 precursor							137.0	115.0	123.0					14																	21502251		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502251G>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.197C>T	14.37:g.21502251G>A	ENSP00000372410:p.Ser66Leu					NDRG2_uc010tll.1_Intron	p.S66L	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	335	-	all_cancers(95;0.000759)		66						Missense_Mutation	SNP	ENST00000382951.3	37	c.197C>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287677	0.23478	.	.	ENSG00000206150	ENST00000382951	T	0.42513	0.97	5.12	3.29	0.37713	Ribonuclease A, domain (3);	0.385688	0.22693	N	0.056787	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.22386	0.039	T	0.20571	-1.0271	10	0.17832	T	0.49	-37.9252	7.3409	0.26635	0.0:0.7277:0.1785:0.0938	.	66	Q5GAN3	RNS13_HUMAN	L	66	ENSP00000372410:S66L	ENSP00000372410:S66L	S	-	2	0	RNASE13	20572091	0.002000	0.14202	0.005000	0.12908	0.000000	0.00434	0.841000	0.27613	0.668000	0.31126	-0.969000	0.02612	TCA		0.428	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1				44	37	0	0	0	0.139131	0	44	37		
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					uc001wjx.2		NaN																	3	Substitution - coding silent(3)		central_nervous_system(2)|lung(1)	ovary(3)|skin(1)	4						c.(4003-4005)TCG>TCA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T						MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.S1335S	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4111	-	all_cancers(95;2.54e-05)		1335			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		3	57	0	0	0	0.02938	0	3	57		
TRIM9	114088	broad.mit.edu	37	14	51561204	51561204	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:51561204C>T	ENST00000298355.3	-	1	1575	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	TRIM9_ENST00000338969.5_Missense_Mutation_p.E152K|TRIM9_ENST00000360392.4_Missense_Mutation_p.E152K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	152					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATTACCCCTTCCAGTACGCGA	0.642																																						uc001wyx.3		NaN																	0				skin(2)|lung(1)	3						c.(454-456)GAA>AAA		tripartite motif protein 9 isoform 1							22.0	24.0	23.0					14																	51561204		2203	4299	6502	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51561204C>T	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.454G>A	14.37:g.51561204C>T	ENSP00000298355:p.Glu152Lys					TRIM9_uc001wyy.2_Missense_Mutation_p.E152K|TRIM9_uc001wyz.3_Missense_Mutation_p.E152K	p.E152K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			1	1219	-	all_epithelial(31;0.00418)|Breast(41;0.148)		152					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.454G>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571785	0.86542	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.57107	2.41;2.41;0.42	5.0	5.0	0.66597	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	M	0.64567	1.98	0.58432	D	0.999999	D;D;P	0.64830	0.994;0.994;0.64	P;D;B	0.68943	0.904;0.961;0.298	T	0.70850	-0.4760	10	0.54805	T	0.06	.	15.7714	0.78173	0.0:1.0:0.0:0.0	.	152;152;152	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	K	152	ENSP00000298355:E152K;ENSP00000342970:E152K;ENSP00000353561:E152K	ENSP00000298355:E152K	E	-	1	0	TRIM9	50630954	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.198000	0.77823	2.301000	0.77427	0.561000	0.74099	GAA		0.642	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1		NM_015163		4	13	0	0	0	0.021553	0	4	13		
DHRS7	51635	broad.mit.edu	37	14	60622822	60622822	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:60622822C>G	ENST00000216500.5	-	3	637	c.182G>C	c.(181-183)gGa>gCa	p.G61A	DHRS7_ENST00000536410.2_Missense_Mutation_p.G11A|DHRS7_ENST00000553986.1_5'Flank|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.G61A|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	61						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CTCACCAATTCCACTCGAGGC	0.463																																						uc001xes.2		NaN																	0				ovary(1)	1						c.(181-183)GGA>GCA		dehydrogenase/reductase (SDR family) member 7							112.0	105.0	108.0					14																	60622822		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60622822C>G	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.182G>C	14.37:g.60622822C>G	ENSP00000216500:p.Gly61Ala					C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.G11A|DHRS7_uc001xeu.2_Missense_Mutation_p.G61A	p.G61A	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	2	366	-			61			NAD (By similarity).		B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.182G>C	CCDS9743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.144763|5.144763	0.94603|0.94603	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000554101;ENST00000557137|ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410;ENST00000557326	.|T;T;T	.|0.69306	.|-0.39;-0.39;-0.39	5.58|5.58	5.58|5.58	0.84498|0.84498	.|NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89427|0.89427	0.6712|0.6712	H|H	0.98111|0.98111	4.15|4.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.92555|0.92555	0.6053|0.6053	5|10	.|0.87932	.|D	.|0	.|.	19.769|19.769	0.96353|0.96353	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|61;61	.|F8W9Q4;Q9Y394	.|.;DHRS7_HUMAN	Q|A	56;61|61;61;61;11;61	.|ENSP00000216500:G61A;ENSP00000451882:G61A;ENSP00000442993:G11A	.|ENSP00000216500:G61A	E|G	-|-	1|2	0|0	DHRS7|DHRS7	59692575|59692575	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.957000|0.957000	0.61999|0.61999	7.601000|7.601000	0.82783|0.82783	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.463	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2		NM_016029		29	47	0	0	0	0.054565	0	29	47		
PCNX	22990	broad.mit.edu	37	14	71445358	71445358	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:71445358C>T	ENST00000304743.2	+	6	2750	c.2304C>T	c.(2302-2304)gtC>gtT	p.V768V	PCNX_ENST00000439984.3_Silent_p.V768V|PCNX_ENST00000238570.5_Silent_p.V768V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	768						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATGCAGTCAGTGGAGGTA	0.393																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(2302-2304)GTC>GTT		pecanex-like 1							72.0	71.0	71.0					14																	71445358		2198	4299	6497	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71445358C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2304C>T	14.37:g.71445358C>T						PCNX_uc001xmn.3_Silent_p.V768V|PCNX_uc010are.1_Silent_p.V768V	p.V768V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2750	+			768					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.2304C>T	CCDS9806.1																																																																																				0.393	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		35	45	0	0	0	0.124865	0	35	45		
NRDE2	55051	broad.mit.edu	37	14	90778760	90778760	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:90778760G>C	ENST00000354366.3	-	4	767	c.535C>G	c.(535-537)Ctc>Gtc	p.L179V	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	179																	CCTCGGTAGAGAGACTTGTAC	0.478																																						uc001xyi.1		NaN																	0				ovary(2)|lung(1)	3						c.(535-537)CTC>GTC		hypothetical protein LOC55051 isoform 1							132.0	112.0	119.0					14																	90778760		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90778760G>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.535C>G	14.37:g.90778760G>C	ENSP00000346335:p.Leu179Val					C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_5'UTR	p.L179V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	4	566	-		all_cancers(154;0.118)	179			Potential.		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.535C>G	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211958	0.79240	.	.	ENSG00000119720	ENST00000354366	T	0.33865	1.39	5.35	5.35	0.76521	.	0.068330	0.64402	D	0.000010	T	0.60366	0.2263	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61926	-0.6962	10	0.52906	T	0.07	-13.6814	14.6376	0.68702	0.072:0.0:0.928:0.0	.	179	Q9H7Z3	CN102_HUMAN	V	179	ENSP00000346335:L179V	ENSP00000346335:L179V	L	-	1	0	C14orf102	89848513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.636000	0.67848	2.657000	0.90304	0.549000	0.68633	CTC		0.478	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1		NM_017970		31	82	0	0	0	0.092188	0	31	82		
GSKIP	51527	broad.mit.edu	37	14	96852000	96852000	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:96852000G>C	ENST00000556095.1	+	4	2211	c.399G>C	c.(397-399)ttG>ttC	p.L133F	GSKIP_ENST00000438650.1_Missense_Mutation_p.L133F|GSKIP_ENST00000554182.1_Missense_Mutation_p.L133F|GSKIP_ENST00000555181.1_Missense_Mutation_p.L133F|RNU2-33P_ENST00000410344.1_RNA	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	133	Interaction with GSK3B.					cytoplasm (GO:0005737)											TGGAAGCTTTGAAAAGAGATG	0.438																																						uc001yfj.3		NaN																	0					0						c.(397-399)TTG>TTC		chromosome 14 open reading frame 129							114.0	113.0	114.0					14																	96852000		2203	4300	6503	SO:0001583	missense	51527					cytoplasm	protein binding	g.chr14:96852000G>C	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.399G>C	14.37:g.96852000G>C	ENSP00000451188:p.Leu133Phe					C14orf129_uc001yfl.2_Missense_Mutation_p.L133F	p.L133F	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)	4	544	+		Melanoma(154;0.226)	133			Interaction with GSK3B.		B3KSZ0|Q9BST1|Q9NWK0	Missense_Mutation	SNP	ENST00000556095.1	37	c.399G>C	CCDS32153.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245860	0.59103	.	.	ENSG00000100744	ENST00000555181;ENST00000554182;ENST00000556095;ENST00000438650	.	.	.	5.65	3.76	0.43208	GSKIP/TIF31 domain (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.64080	1.96	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	T	0.68243	-0.5460	9	0.45353	T	0.12	-12.1928	10.672	0.45764	0.1598:0.0:0.8402:0.0	.	133	Q9P0R6	GSKIP_HUMAN	F	133	.	ENSP00000412315:L133F	L	+	3	2	C14orf129	95921753	1.000000	0.71417	0.718000	0.30602	0.998000	0.95712	3.394000	0.52551	0.685000	0.31468	0.655000	0.94253	TTG		0.438	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1		NM_016472		66	62	0	0	0	0.139131	0	66	62		
CYP46A1	10858	broad.mit.edu	37	14	100166436	100166436	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:100166436G>C	ENST00000261835.3	+	5	545	c.441G>C	c.(439-441)cgG>cgC	p.R147R	CYP46A1_ENST00000423126.2_Silent_p.R50R	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTTCAGCCGGAGGTGAGTGT	0.622																																						uc001ygo.2		NaN																	0					0						c.(439-441)CGG>CGC		cytochrome P450, family 46							57.0	51.0	53.0					14																	100166436		2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166436G>C	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.441G>C	14.37:g.100166436G>C						CYP46A1_uc001ygn.1_Silent_p.R109R	p.R147R	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			5	441	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	147					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.441G>C	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	7.346	0.621936	0.14193	.	.	ENSG00000036530	ENST00000380228	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65776	-0.6086	4	.	.	.	.	12.9732	0.58524	0.2311:0.6649:0.104:0.0	.	.	.	.	Q	134	.	.	E	+	1	0	CYP46A1	99236189	0.967000	0.33354	0.733000	0.30861	0.971000	0.66376	-0.173000	0.09854	-1.801000	0.01245	-0.345000	0.07892	GAG		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1				5	24	0	0	0	0.021553	0	5	24		
MOK	5891	broad.mit.edu	37	14	102729905	102729905	+	Missense_Mutation	SNP	C	C	T	rs374179019		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:102729905C>T	ENST00000361847.2	-	4	492	c.261G>A	c.(259-261)atG>atA	p.M87I	MOK_ENST00000522874.1_Missense_Mutation_p.M87I|MOK_ENST00000524214.1_Missense_Mutation_p.M57I|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CATAAATATTCATGTCCATAA	0.308																																						uc001ylm.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(259-261)ATG>ATA		MAPK/MAK/MRK overlapping kinase							99.0	100.0	100.0					14																	102729905		2202	4298	6500	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102729905C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.261G>A	14.37:g.102729905C>T	ENSP00000355304:p.Met87Ile					RAGE_uc010txv.1_Missense_Mutation_p.M57I|RAGE_uc001yln.2_5'UTR	p.M87I	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			4	487	-			87			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.261G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696040	0.68386	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.64991	-0.13;-0.13;-0.13	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045578	0.85682	D	0.000000	T	0.54565	0.1866	N	0.21324	0.655	0.80722	D	1	B;B	0.24186	0.037;0.099	B;B	0.31751	0.081;0.135	T	0.51148	-0.8742	10	0.45353	T	0.12	-2.6396	17.8361	0.88697	0.0:1.0:0.0:0.0	.	57;87	E7ERR8;Q9UQ07	.;MOK_HUMAN	I	87;87;57	ENSP00000429469:M87I;ENSP00000355304:M87I;ENSP00000428942:M57I	ENSP00000355304:M87I	M	-	3	0	RAGE	101799658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.097000	0.71452	2.735000	0.93741	0.655000	0.94253	ATG		0.308	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3				10	33	0	0	0	0.132662	0	10	33		
TRAF3	7187	broad.mit.edu	37	14	103369714	103369714	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:103369714G>A	ENST00000560371.1	+	10	1300	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	TRAF3_ENST00000392745.2_Silent_p.V361V|TRAF3_ENST00000351691.5_Silent_p.V336V|TRAF3_ENST00000539721.1_Silent_p.V278V|TRAF3_ENST00000347662.4_Silent_p.V336V	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	361					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGAACCGCGTGACCGAGCTGG	0.652																																						uc001ymc.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1081-1083)GTG>GTA		TNF receptor-associated factor 3 isoform 1							73.0	71.0	72.0					14																	103369714		2203	4300	6503	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103369714G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1083G>A	14.37:g.103369714G>A						TRAF3_uc001yme.1_Silent_p.V336V|TRAF3_uc001ymd.1_Silent_p.V361V|TRAF3_uc010txy.1_Silent_p.V278V|TRAF3_uc001ymf.1_Silent_p.V94V	p.V361V	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1436	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	361					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.1083G>A	CCDS9975.1																																																																																				0.652	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1		NM_145725		37	45	0	0	0	0.11126	0	37	45		
KIF26A	26153	broad.mit.edu	37	14	104640516	104640516	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:104640516T>A	ENST00000423312.2	+	11	2062	c.2062T>A	c.(2062-2064)Tcc>Acc	p.S688T	KIF26A_ENST00000315264.7_Missense_Mutation_p.S549T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	688	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGCGTGAATCCCTGGCCAC	0.687																																						uc001yos.3		NaN																	0				pancreas(1)	1						c.(2062-2064)TCC>ACC		kinesin family member 26A							19.0	26.0	23.0					14																	104640516		2164	4261	6425	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104640516T>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2062T>A	14.37:g.104640516T>A	ENSP00000388241:p.Ser688Thr						p.S688T	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	2062	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	688					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2062T>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234201	0.39498	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.51817	0.69;0.69	3.98	1.35	0.21983	Kinesin, motor domain (4);	.	.	.	.	T	0.52158	0.1717	M	0.91038	3.17	0.53688	D	0.999973	P	0.36753	0.568	B	0.36608	0.229	T	0.51996	-0.8634	9	0.62326	D	0.03	.	6.5972	0.22681	0.1606:0.0:0.1541:0.6853	.	688	Q9ULI4	KI26A_HUMAN	T	688;549	ENSP00000388241:S688T;ENSP00000325452:S549T	ENSP00000325452:S549T	S	+	1	0	KIF26A	103710269	1.000000	0.71417	0.993000	0.49108	0.260000	0.26232	2.040000	0.41203	0.041000	0.15688	0.260000	0.18958	TCC		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1				3	7	0	0	0	0.021553	0	3	7		
AHNAK2	113146	broad.mit.edu	37	14	105409457	105409457	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:105409457C>T	ENST00000333244.5	-	7	12450	c.12331G>A	c.(12331-12333)Gat>Aat	p.D4111N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4111						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCACACCATCCAGCTTTGCT	0.577																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(12331-12333)GAT>AAT		AHNAK nucleoprotein 2							214.0	222.0	219.0					14																	105409457		1990	4155	6145	SO:0001583	missense	113146					nucleus		g.chr14:105409457C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12331G>A	14.37:g.105409457C>T	ENSP00000353114:p.Asp4111Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.D4011N	p.D4111N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12451	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4111					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12331G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.81	2.647171	0.47258	.	.	ENSG00000185567	ENST00000333244	T	0.01998	4.51	3.0	3.0	0.34707	.	0.212444	0.22074	U	0.064994	T	0.07369	0.0186	M	0.76433	2.335	0.09310	N	1	D	0.62365	0.991	P	0.59595	0.86	T	0.20107	-1.0285	10	0.18710	T	0.47	.	9.4819	0.38906	0.0:1.0:0.0:0.0	.	4111	Q8IVF2	AHNK2_HUMAN	N	4111	ENSP00000353114:D4111N	ENSP00000353114:D4111N	D	-	1	0	AHNAK2	104480502	0.022000	0.18835	0.079000	0.20413	0.011000	0.07611	0.402000	0.20965	1.256000	0.44068	0.485000	0.47835	GAT		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		17	332	0	0	0	0.055883	0	17	332		
ATP10A	57194	broad.mit.edu	37	15	25959383	25959383	+	Silent	SNP	C	C	T	rs572968049		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:25959383C>T	ENST00000356865.6	-	10	1893	c.1782G>A	c.(1780-1782)agG>agA	p.R594R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	594					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAACCTCACCCTCACCTGCA	0.602																																						uc010ayu.2		NaN																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1780-1782)AGG>AGA		ATPase, class V, type 10A							29.0	33.0	32.0					15																	25959383		2192	4285	6477	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959383C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1782G>A	15.37:g.25959383C>T							p.R594R	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1888	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	594			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1782G>A	CCDS32178.1																																																																																				0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		19	26	0	0	0	0.069288	0	19	26		
WDR72	256764	broad.mit.edu	37	15	54003115	54003115	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:54003115C>T	ENST00000396328.1	-	9	1132	c.893G>A	c.(892-894)aGa>aAa	p.R298K	WDR72_ENST00000557913.1_Missense_Mutation_p.R297K|WDR72_ENST00000559418.1_Missense_Mutation_p.R310K|WDR72_ENST00000360509.5_Missense_Mutation_p.R298K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	298										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTAAGCACTCTTCCATCAGC	0.388																																						uc002acj.2		NaN																	0				lung(1)|skin(1)	2						c.(892-894)AGA>AAA		WD repeat domain 72							141.0	125.0	131.0					15																	54003115		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54003115C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.893G>A	15.37:g.54003115C>T	ENSP00000379619:p.Arg298Lys					WDR72_uc010bfi.1_Missense_Mutation_p.R298K	p.R298K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	9	935	-			298					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.893G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560288	0.03939	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.14022	2.54;2.54	5.58	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.550372	0.20175	N	0.097647	T	0.05868	0.0153	N	0.16478	0.41	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.42582	-0.9443	10	0.02654	T	1	.	5.9447	0.19211	0.0:0.6257:0.1537:0.2205	.	298	Q3MJ13	WDR72_HUMAN	K	298	ENSP00000379619:R298K;ENSP00000353699:R298K	ENSP00000353699:R298K	R	-	2	0	WDR72	51790407	0.995000	0.38212	0.471000	0.27229	0.924000	0.55760	1.163000	0.31798	0.816000	0.34421	0.655000	0.94253	AGA		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758		26	30	0	0	0	0.045705	0	26	30		
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						uc002bcy.3		NaN																	4	Substitution - Missense(4)	p.D903N(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2758-2760)CGA>CAA		TBC1 domain family, member 2B isoform a							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N	p.R920Q	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			13	2759	-			920					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2759G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3		NM_015079		4	15	0	0	0	0.02938	0	4	15		
MEFV	4210	broad.mit.edu	37	16	3294272	3294272	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:3294272C>T	ENST00000219596.1	-	8	1780	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	MEFV_ENST00000339854.4_Missense_Mutation_p.E401K|MEFV_ENST00000541159.1_Missense_Mutation_p.E370K|MEFV_ENST00000536379.1_Missense_Mutation_p.E370K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	581	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ATTTCCATTTCTGAACGCAGG	0.522																																						uc002cun.1		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(1741-1743)GAA>AAA		Mediterranean fever protein	Colchicine(DB01394)						89.0	71.0	77.0					16																	3294272		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3294272C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1741G>A	16.37:g.3294272C>T	ENSP00000219596:p.Glu581Lys						p.E581K	NM_000243	NP_000234	O15553	MEFV_HUMAN			8	1781	-			581			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1741G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539819	0.45176	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65549	-0.16;0.27;0.04;0.28	5.15	5.15	0.70609	B30.2/SPRY domain (1);	0.000000	0.52532	D	0.000068	T	0.75413	0.3846	M	0.66939	2.045	0.35706	D	0.816	D	0.89917	1.0	D	0.71184	0.972	T	0.79776	-0.1661	10	0.42905	T	0.14	-27.3235	13.9761	0.64275	0.0:1.0:0.0:0.0	.	581	O15553	MEFV_HUMAN	K	581;581;401;370;370;370	ENSP00000219596:E581K;ENSP00000339639:E401K;ENSP00000438711:E370K;ENSP00000445079:E370K	ENSP00000219596:E581K	E	-	1	0	MEFV	3234273	0.913000	0.31002	0.950000	0.38849	0.076000	0.17211	3.347000	0.52200	2.673000	0.90976	0.563000	0.77884	GAA		0.522	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243		24	26	0	0	0	0.116897	0	24	26		
CLEC16A	23274	broad.mit.edu	37	16	11076791	11076791	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:11076791G>T	ENST00000409790.1	+	10	1244	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	CLEC16A_ENST00000409552.3_Silent_p.L336L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGTCATTCTGAATGGTGATC	0.428																																						uc002dao.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1012-1014)CTG>CTT		C-type lectin domain family 16, member A							115.0	108.0	110.0					16																	11076791		1906	4130	6036	SO:0001819	synonymous_variant	23274							g.chr16:11076791G>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1014G>T	16.37:g.11076791G>T						CLEC16A_uc002dan.3_Silent_p.L336L	p.L338L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			10	1244	+			338						Silent	SNP	ENST00000409790.1	37	c.1014G>T	CCDS45409.1																																																																																				0.428	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226		10	39	1	0	4.36969e-10	0.105934	4.65001e-10	10	39		
ABCC1	4363	broad.mit.edu	37	16	16180769	16180769	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:16180769C>T	ENST00000399410.3	+	18	2556	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	ABCC1_ENST00000351154.5_Missense_Mutation_p.P735L|ABCC1_ENST00000345148.5_Missense_Mutation_p.P794L|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399408.2_Missense_Mutation_p.P794L|ABCC1_ENST00000346370.5_Intron	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	794	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTCGATGATCCCCTCTCAGCA	0.597																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(2380-2382)CCC>CTC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						56.0	65.0	62.0					16																	16180769		2188	4297	6485	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16180769C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2381C>T	16.37:g.16180769C>T	ENSP00000382342:p.Pro794Leu					ABCC1_uc010bvj.2_Missense_Mutation_p.P735L|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Missense_Mutation_p.P794L|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Missense_Mutation_p.P678L	p.P794L	NM_004996	NP_004987	P33527	MRP1_HUMAN			18	2556	+			794			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2381C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688254	0.68271	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000351154;ENST00000345148;ENST00000536381	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.38	5.38	0.77491	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99683	1.0999	10	0.87932	D	0	-33.2292	18.1249	0.89583	0.0:1.0:0.0:0.0	.	794;735;794;794	P33527-4;P33527-2;P33527;P33527-9	.;.;MRP1_HUMAN;.	L	794;794;735;794;468	ENSP00000382342:P794L;ENSP00000382340:P794L;ENSP00000263017:P735L;ENSP00000263014:P794L	ENSP00000263014:P794L	P	+	2	0	ABCC1	16088270	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	7.685000	0.84117	2.520000	0.84964	0.563000	0.77884	CCC		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		18	59	0	0	0	0.049695	0	18	59		
UMOD	7369	broad.mit.edu	37	16	20344666	20344666	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:20344666G>T	ENST00000570689.1	-	11	2039	c.1893C>A	c.(1891-1893)ctC>ctA	p.L631L	UMOD_ENST00000396142.2_Silent_p.L631L|UMOD_ENST00000302509.4_Silent_p.L631L|UMOD_ENST00000396138.4_Silent_p.L680L|UMOD_ENST00000424589.1_Silent_p.L664L|UMOD_ENST00000396134.2_Silent_p.L664L|UMOD_ENST00000570331.1_5'UTR			P07911	UROM_HUMAN	uromodulin	631					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTGGCCGAGAGAAGCAGAG	0.542																																						uc002dgz.2		NaN																	0				ovary(1)|skin(1)	2						c.(1891-1893)CTC>CTA		uromodulin precursor							66.0	57.0	60.0					16																	20344666		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20344666G>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1893C>A	16.37:g.20344666G>T						UMOD_uc002dha.2_Silent_p.L631L|UMOD_uc002dhb.2_Silent_p.L664L	p.L631L	NM_003361	NP_003352	P07911	UROM_HUMAN			11	2022	-			631					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1893C>A	CCDS10583.1																																																																																				0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1				6	30	1	0	0.000274275	0.047766	0.000281257	6	30		
ACSM5	54988	broad.mit.edu	37	16	20441100	20441100	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:20441100G>A	ENST00000331849.4	+	8	1249	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	368					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAGCTGTACGAAGGCTATGG	0.617																																						uc002dhe.2		NaN																	0				ovary(2)	2						c.(1102-1104)GAA>AAA		acyl-CoA synthetase medium-chain family member 5							72.0	78.0	76.0					16																	20441100		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20441100G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1102G>A	16.37:g.20441100G>A	ENSP00000327916:p.Glu368Lys						p.E368K	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			8	1249	+			368			ATP (By similarity).		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1102G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546949	0.65198	.	.	ENSG00000183549	ENST00000331849	T	0.53423	0.62	4.44	4.44	0.53790	AMP-dependent synthetase/ligase (1);	0.000000	0.56097	D	0.000023	T	0.75722	0.3888	M	0.92367	3.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.83334	-0.0011	10	0.87932	D	0	-18.591	16.2059	0.82131	0.0:0.0:1.0:0.0	.	368	Q6NUN0	ACSM5_HUMAN	K	368	ENSP00000327916:E368K	ENSP00000327916:E368K	E	+	1	0	ACSM5	20348601	1.000000	0.71417	0.912000	0.35992	0.035000	0.12851	7.638000	0.83328	2.149000	0.67028	0.557000	0.71058	GAA		0.617	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888		11	51	0	0	0	0.11911	0	11	51		
CDH1	999	broad.mit.edu	37	16	68863653	68863653	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:68863653C>G	ENST00000261769.5	+	15	2583	c.2392C>G	c.(2392-2394)Ctt>Gtt	p.L798V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L737V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	798					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCCCGGTATCTTCCCCGCCC	0.522			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		0				breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(2392-2394)CTT>GTT		cadherin 1, type 1 preproprotein							78.0	69.0	72.0					16																	68863653		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68863653C>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2392C>G	16.37:g.68863653C>G	ENSP00000261769:p.Leu798Val					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L737V	p.L798V	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	15	2516	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	798			Cytoplasmic (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2392C>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351618	0.61183	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.75704	-0.96;-0.96	6.05	6.05	0.98169	Cadherin, cytoplasmic domain (1);	0.130376	0.35235	N	0.003347	T	0.60856	0.2301	N	0.04297	-0.235	0.34478	D	0.70351	P;P	0.38565	0.563;0.637	B;B	0.41894	0.369;0.369	T	0.66056	-0.6018	10	0.24483	T	0.36	.	20.1981	0.98245	0.0:1.0:0.0:0.0	.	737;798	Q9UII8;P12830	.;CADH1_HUMAN	V	798;816;737	ENSP00000261769:L798V;ENSP00000414946:L737V	ENSP00000261769:L798V	L	+	1	0	CDH1	67421154	0.995000	0.38212	0.931000	0.37212	0.537000	0.34900	3.706000	0.54830	2.881000	0.98747	0.637000	0.83480	CTT		0.522	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		19	80	0	0	0	0.0918	0	19	80		
MPHOSPH6	10200	broad.mit.edu	37	16	82183009	82183009	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:82183009C>A	ENST00000258169.4	-	4	306		c.e4-1		MPHOSPH6_ENST00000563504.1_Splice_Site	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6						maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						GCATCAATTTCTGAAAAATAC	0.398																																						uc002fgw.2		NaN																	0					0						c.e4-1		M-phase phosphoprotein 6							167.0	151.0	156.0					16																	82183009		2201	4300	6501	SO:0001630	splice_region_variant	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82183009C>A	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.256-1G>T	16.37:g.82183009C>A							p.K86_splice	NM_005792	NP_005783	Q99547	MPH6_HUMAN			4	305	-								B2RAF0	Splice_Site	SNP	ENST00000258169.4	37	c.256_splice	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539719	0.65085	.	.	ENSG00000135698	ENST00000258169	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7495	0.91809	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPHOSPH6	80740510	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	5.292000	0.65673	2.661000	0.90470	0.655000	0.94253	.		0.398	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1		NM_005792	Intron	34	35	1	0	1.90571e-15	0.069456	2.07494e-15	34	35		
KLHDC4	54758	broad.mit.edu	37	16	87760397	87760397	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:87760397C>T	ENST00000270583.5	-	7	791	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KLHDC4_ENST00000347925.5_Missense_Mutation_p.V214I|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.V188I	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	245										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCATAGACGACGATGCCGCCC	0.652																																						uc002fki.2		NaN																	0				pancreas(2)	2						c.(733-735)GTC>ATC		kelch domain containing 4							63.0	61.0	62.0					16																	87760397		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87760397C>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.733G>A	16.37:g.87760397C>T	ENSP00000270583:p.Val245Ile					KLHDC4_uc010cht.1_Missense_Mutation_p.V64I|KLHDC4_uc002fkj.2_Missense_Mutation_p.V214I|KLHDC4_uc002fkk.2_Missense_Mutation_p.V64I|KLHDC4_uc002fkl.2_Missense_Mutation_p.V188I|KLHDC4_uc010chu.1_Missense_Mutation_p.V64I	p.V245I	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	7	779	-			245			Kelch 4.		D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.733G>A	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.220464	0.01530	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.16597	2.33;2.33;2.33	5.55	-3.58	0.04597	Kelch-type beta propeller (1);	0.379360	0.29093	N	0.013179	T	0.07908	0.0198	N	0.16066	0.365	0.09310	N	0.999999	B;B;B;B	0.16166	0.001;0.006;0.016;0.007	B;B;B;B	0.14578	0.001;0.005;0.011;0.009	T	0.34551	-0.9824	10	0.12103	T	0.63	-13.4967	13.9719	0.64245	0.0:0.4098:0.0:0.5902	.	64;188;214;245	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	I	245;64;214;188	ENSP00000270583:V245I;ENSP00000325717:V214I;ENSP00000262530:V188I	ENSP00000270583:V245I	V	-	1	0	KLHDC4	86317898	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.382000	0.07408	-0.803000	0.04415	-0.742000	0.03525	GTC		0.652	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2		NM_017566		15	30	0	0	0	0.049695	0	15	30		
ANKRD11	29123	broad.mit.edu	37	16	89351818	89351818	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:89351818T>C	ENST00000301030.4	-	9	1592	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N378D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	378					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATAAAACTATTGGATTTCGTT	0.433																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1132-1134)AAT>GAT		ankyrin repeat domain 11							139.0	142.0	141.0					16																	89351818		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351818T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1132A>G	16.37:g.89351818T>C	ENSP00000301030:p.Asn378Asp					ANKRD11_uc002fmy.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnc.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnb.1_Missense_Mutation_p.N335D	p.N378D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1593	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	378					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1132A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	9.584	1.124412	0.20959	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.40756	1.02;1.02	5.4	5.4	0.78164	.	0.044587	0.85682	D	0.000000	T	0.37732	0.1014	M	0.62723	1.935	0.80722	D	1	P	0.48503	0.911	B	0.34652	0.187	T	0.36504	-0.9745	10	0.34782	T	0.22	.	15.4164	0.74974	0.0:0.0:0.0:1.0	.	378	Q6UB99	ANR11_HUMAN	D	378;378;392	ENSP00000301030:N378D;ENSP00000367581:N378D	ENSP00000301030:N378D	N	-	1	0	ANKRD11	87879319	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	4.114000	0.57858	2.052000	0.61016	0.460000	0.39030	AAT		0.433	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		27	55	0	0	0	0.050027	0	27	55		
SPATA22	84690	broad.mit.edu	37	17	3352316	3352316	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:3352316G>C	ENST00000573128.1	-	6	940	c.457C>G	c.(457-459)Caa>Gaa	p.Q153E	SPATA22_ENST00000541913.1_Missense_Mutation_p.Q137E|SPATA22_ENST00000268981.5_Missense_Mutation_p.Q153E|SPATA22_ENST00000397168.3_Missense_Mutation_p.Q153E|SPATA22_ENST00000572969.1_Missense_Mutation_p.Q153E|SPATA22_ENST00000355380.4_Missense_Mutation_p.Q110E|SPATA22_ENST00000575375.1_Missense_Mutation_p.Q153E			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	153					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTTTGTTGTTGAGCTCCCGAA	0.358																																						uc002fvm.2		NaN																	0					0						c.(457-459)CAA>GAA		spermatogenesis associated 22							240.0	231.0	234.0					17																	3352316		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3352316G>C	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.457C>G	17.37:g.3352316G>C	ENSP00000459580:p.Gln153Glu					SPATA22_uc010vrg.1_Missense_Mutation_p.Q137E|SPATA22_uc010vrf.1_Missense_Mutation_p.Q153E|SPATA22_uc002fvn.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvo.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvp.2_Missense_Mutation_p.Q153E|SPATA22_uc010ckf.2_Missense_Mutation_p.Q110E	p.Q153E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			6	694	-			153					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.457C>G	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	12.09	1.834060	0.32421	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.18174	2.23;2.26;2.24;2.24	5.07	4.03	0.46877	.	0.000000	0.34750	N	0.003718	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	P;D;P;D	0.61697	0.865;0.99;0.865;0.974	P;D;P;D	0.72982	0.532;0.979;0.532;0.969	T	0.01894	-1.1252	10	0.72032	D	0.01	-3.376	11.7116	0.51628	0.0:0.0:0.8237:0.1763	.	137;153;110;153	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	E	110;153;153;137	ENSP00000347541:Q110E;ENSP00000380354:Q153E;ENSP00000268981:Q153E;ENSP00000441920:Q137E	ENSP00000268981:Q153E	Q	-	1	0	SPATA22	3299066	1.000000	0.71417	0.482000	0.27366	0.038000	0.13279	3.214000	0.51161	2.533000	0.85409	0.555000	0.69702	CAA		0.358	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2		NM_032598		35	83	0	0	0	0.092188	0	35	83		
KIF1C	10749	broad.mit.edu	37	17	4905368	4905368	+	Silent	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:4905368C>G	ENST00000320785.5	+	6	735	c.378C>G	c.(376-378)ctC>ctG	p.L126L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GTGAGGACCTCTTCTCTCGCG	0.587																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	0				breast(2)	2						c.(376-378)CTC>CTG		kinesin family member 1C							120.0	101.0	107.0					17																	4905368		2203	4300	6503	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905368C>G	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.378C>G	17.37:g.4905368C>G							p.L126L	NM_006612	NP_006603	O43896	KIF1C_HUMAN			6	704	+			126			Kinesin-motor.		D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.378C>G	CCDS11065.1																																																																																				0.587	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				34	48	0	0	0	0.117977	0	34	48		
DNAH2	146754	broad.mit.edu	37	17	7722612	7722612	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:7722612C>T	ENST00000572933.1	+	72	12361	c.10901C>T	c.(10900-10902)tCa>tTa	p.S3634L	DNAH2_ENST00000389173.2_Missense_Mutation_p.S3634L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3634					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCAGTTCTCACTGGATGCC	0.542																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(10900-10902)TCA>TTA		dynein heavy chain domain 3							112.0	94.0	100.0					17																	7722612		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7722612C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10901C>T	17.37:g.7722612C>T	ENSP00000458355:p.Ser3634Leu					DNAH2_uc010cnm.1_Missense_Mutation_p.S572L	p.S3634L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			71	10915	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3634					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10901C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881872	0.91740	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.91945	-2.94	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000003	D	0.98058	0.9360	H	0.99815	4.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	D	0.99153	1.0859	10	0.87932	D	0	.	15.4308	0.75099	0.0:1.0:0.0:0.0	.	3595;3634	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3595;3634	ENSP00000373825:S3634L	ENSP00000353818:S3595L	S	+	2	0	DNAH2	7663337	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.259000	0.78381	2.228000	0.72767	0.561000	0.74099	TCA		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		14	47	0	0	0	0.132662	0	14	47		
FAM83G	644815	broad.mit.edu	37	17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																						uc002guw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(262-264)CAG>TAG		hypothetical protein LOC644815																																				SO:0001587	stop_gained	644815							g.chr17:18907093G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.Q88*	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			2	429	-			88					Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	ENST00000388995.6	37	c.262C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4				4	4	0	0	0	0.009096	0	4	4		
PIGS	94005	broad.mit.edu	37	17	26890869	26890869	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:26890869C>T	ENST00000308360.7	-	4	718	c.343G>A	c.(343-345)Gag>Aag	p.E115K	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.E107K|PIGS_ENST00000543734.1_Missense_Mutation_p.E54K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	115					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCTCCTCCTCATGGTCCAAA	0.478																																						uc002hbo.2		NaN																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(343-345)GAG>AAG		phosphatidylinositol glycan anchor biosynthesis,							200.0	185.0	190.0					17																	26890869		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890869C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.343G>A	17.37:g.26890869C>T	ENSP00000309430:p.Glu115Lys					PIGS_uc002hbn.2_Missense_Mutation_p.E107K|PIGS_uc010wap.1_Missense_Mutation_p.E54K	p.E115K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			4	716	-	Lung NSC(42;0.00431)		115			Lumenal (Potential).		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.343G>A	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808864	0.70797	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.77616	2.38	0.58432	D	0.999999	P;P	0.36909	0.573;0.518	B;B	0.42245	0.381;0.263	T	0.50866	-0.8777	10	0.31617	T	0.26	-15.8506	15.9258	0.79615	0.0:1.0:0.0:0.0	.	115;107	Q96S52;Q96S52-2	PIGS_HUMAN;.	K	107;115;54	ENSP00000378755:E107K;ENSP00000309430:E115K;ENSP00000438447:E54K	ENSP00000309430:E115K	E	-	1	0	PIGS	23914996	0.995000	0.38212	0.980000	0.43619	0.844000	0.47949	4.249000	0.58766	2.429000	0.82318	0.655000	0.94253	GAG		0.478	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3		NM_033198		43	130	0	0	0	0.139131	0	43	130		
ANKRD13B	124930	broad.mit.edu	37	17	27935029	27935029	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:27935029G>A	ENST00000394859.3	+	3	430	c.276G>A	c.(274-276)cgG>cgA	p.R92R	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	92						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TGAGTACCCGGGACCTGGAGC	0.667																																						uc002hei.2		NaN																	0					0						c.(274-276)CGG>CGA		ankyrin repeat domain 13B							46.0	55.0	52.0					17																	27935029		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27935029G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.276G>A	17.37:g.27935029G>A						ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA	p.R92R	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			3	389	+			92			ANK 2.		Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.276G>A	CCDS11251.1																																																																																				0.667	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1		NM_152345		11	27	0	0	0	0.105934	0	11	27		
ATAD5	79915	broad.mit.edu	37	17	29162311	29162311	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162311G>A	ENST00000321990.4	+	2	1590	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	404					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCAATTTATGAAAGCATTTA	0.358																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(1210-1212)ATG>ATA		ATPase family, AAA domain containing 5							66.0	71.0	69.0					17																	29162311		2201	4300	6501	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162311G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1212G>A	17.37:g.29162311G>A	ENSP00000313171:p.Met404Ile					ATAD5_uc002hft.1_Missense_Mutation_p.M301I	p.M404I	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	1558	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	404					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1212G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337606	0.41398	.	.	ENSG00000176208	ENST00000321990	T	0.28895	1.59	5.91	5.91	0.95273	.	0.037854	0.85682	D	0.000000	T	0.58495	0.2126	M	0.70275	2.135	0.49483	D	0.999797	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.57952	-0.7722	10	0.72032	D	0.01	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	404;404	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	404	ENSP00000313171:M404I	ENSP00000313171:M404I	M	+	3	0	ATAD5	26186437	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.870000	0.87175	2.813000	0.96785	0.655000	0.94253	ATG		0.358	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		12	44	0	0	0	0.09319	0	12	44		
ATAD5	79915	broad.mit.edu	37	17	29162605	29162605	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162605G>C	ENST00000321990.4	+	2	1884	c.1506G>C	c.(1504-1506)aaG>aaC	p.K502N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	502					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACACTCAAAAGAAAGAAACAA	0.303																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(1504-1506)AAG>AAC		ATPase family, AAA domain containing 5							52.0	60.0	57.0					17																	29162605		2201	4295	6496	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162605G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1506G>C	17.37:g.29162605G>C	ENSP00000313171:p.Lys502Asn					ATAD5_uc002hft.1_Missense_Mutation_p.K399N	p.K502N	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	1852	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	502					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1506G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	6.156	0.396922	0.11638	.	.	ENSG00000176208	ENST00000321990	T	0.10099	2.91	5.85	3.8	0.43715	.	0.649731	0.14873	N	0.293452	T	0.09379	0.0231	L	0.53249	1.67	0.09310	N	1	P;P	0.44380	0.834;0.704	B;B	0.36186	0.219;0.145	T	0.25537	-1.0129	10	0.41790	T	0.15	.	5.5938	0.17315	0.0694:0.1184:0.5746:0.2376	.	502;502	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	N	502	ENSP00000313171:K502N	ENSP00000313171:K502N	K	+	3	2	ATAD5	26186731	0.071000	0.21146	0.860000	0.33809	0.880000	0.50808	0.986000	0.29590	1.474000	0.48178	0.655000	0.94253	AAG		0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		12	33	0	0	0	0.105934	0	12	33		
ATAD5	79915	broad.mit.edu	37	17	29162843	29162843	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162843G>A	ENST00000321990.4	+	2	2122	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	582					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCTGAATCTGAAGCCAGCTT	0.378																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(1744-1746)GAA>AAA		ATPase family, AAA domain containing 5							72.0	69.0	70.0					17																	29162843		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162843G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1744G>A	17.37:g.29162843G>A	ENSP00000313171:p.Glu582Lys					ATAD5_uc002hft.1_Missense_Mutation_p.E479K	p.E582K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	2090	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	582					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1744G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	5.296	0.239932	0.10023	.	.	ENSG00000176208	ENST00000321990	T	0.09350	2.99	5.31	4.33	0.51752	.	1.001760	0.08043	N	0.995432	T	0.09905	0.0243	L	0.46157	1.445	0.09310	N	1	P;P	0.41848	0.763;0.651	B;B	0.35859	0.21;0.212	T	0.07177	-1.0786	10	0.10902	T	0.67	.	10.7081	0.45966	0.0897:0.0:0.9103:0.0	.	582;582	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	K	582	ENSP00000313171:E582K	ENSP00000313171:E582K	E	+	1	0	ATAD5	26186969	0.929000	0.31497	0.903000	0.35520	0.090000	0.18270	1.852000	0.39348	2.640000	0.89533	0.655000	0.94253	GAA		0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		15	55	0	0	0	0.0333	0	15	55		
NF1	4763	broad.mit.edu	37	17	29533336	29533336	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29533336C>T	ENST00000358273.4	+	12	1722	c.1339C>T	c.(1339-1341)Ctt>Ttt	p.L447F	NF1_ENST00000431387.4_Missense_Mutation_p.L447F|NF1_ENST00000356175.3_Missense_Mutation_p.L447F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	447					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGTGAAACACTTCATAAAGC	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(6)	p.?(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1339-1341)CTT>TTT		neurofibromin isoform 1							229.0	205.0	213.0					17																	29533336		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533336C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1339C>T	17.37:g.29533336C>T	ENSP00000351015:p.Leu447Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.L447F|NF1_uc002hgf.1_Missense_Mutation_p.L447F|NF1_uc002hgh.2_Missense_Mutation_p.L447F|NF1_uc010csn.1_Missense_Mutation_p.L307F	p.L447F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1672	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	447					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1339C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680188	0.88542	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	6.17	6.17	0.99709	Armadillo-type fold (1);	0.128103	0.53938	D	0.000043	D	0.94588	0.8256	M	0.74647	2.275	0.80722	D	1	D;P;D;D;D	0.76494	0.998;0.946;0.999;0.999;0.999	D;P;D;D;D	0.71184	0.959;0.649;0.972;0.951;0.951	D	0.94059	0.7325	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	447;447;447;447;447	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	F	447;447;447;113	ENSP00000412921:L447F;ENSP00000351015:L447F;ENSP00000348498:L447F;ENSP00000389907:L113F	ENSP00000348498:L447F	L	+	1	0	NF1	26557462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.537000	0.60643	2.941000	0.99782	0.655000	0.94253	CTT		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		40	90	0	0	0	0.139131	0	40	90		
NF1	4763	broad.mit.edu	37	17	29557904	29557904	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29557904C>G	ENST00000358273.4	+	24	3541	c.3158C>G	c.(3157-3159)tCa>tGa	p.S1053*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S1053*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1053					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGGGAACATCAAACCAAGCA	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3157-3159)TCA>TGA		neurofibromin isoform 1							51.0	49.0	50.0					17																	29557904		2203	4297	6500	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557904C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3158C>G	17.37:g.29557904C>G	ENSP00000351015:p.Ser1053*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.S1053*|NF1_uc010csn.1_Nonsense_Mutation_p.S913*|NF1_uc002hgi.1_Nonsense_Mutation_p.S86*	p.S1053*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	24	3491	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1053					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.3158C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	45	11.398839	0.99556	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.3172	0.94220	0.0:1.0:0.0:0.0	.	.	.	.	X	1053;1053;719	.	ENSP00000348498:S1053X	S	+	2	0	NF1	26582030	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.421000	0.80204	2.569000	0.86673	0.305000	0.20034	TCA		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		4	12	0	0	0	0.02938	0	4	12		
SPACA3	124912	broad.mit.edu	37	17	31322626	31322626	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:31322626C>T	ENST00000269053.3	+	2	304	c.234C>T	c.(232-234)ctC>ctT	p.L78L	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Silent_p.L9L	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	78					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCTGTCTGCTCAGCTGCCTGC	0.622																																						uc002hhs.1		NaN																	0				ovary(2)	2						c.(232-234)CTC>CTT		sperm acrosome associated 3							108.0	74.0	85.0					17																	31322626		2203	4300	6503	SO:0001819	synonymous_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322626C>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.234C>T	17.37:g.31322626C>T						SPACA3_uc010cte.1_RNA	p.L78L	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		2	309	+			78			Helical; Signal-anchor for type II membrane protein; (Potential).		Q7Z4Y5	Silent	SNP	ENST00000269053.3	37	c.234C>T	CCDS11275.1																																																																																				0.622	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1		NM_173847		17	47	0	0	0	0.038395	0	17	47		
TUBG1	7283	broad.mit.edu	37	17	40762134	40762134	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:40762134G>C	ENST00000251413.3	+	2	120	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000543197.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	20					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	AGTTGGGTTCGAGTTCTGGAA	0.627																																					Colon(20;114 698 11420 22864)	uc002ian.2		NaN																	0				ovary(1)	1						c.(58-60)GAG>CAG		tubulin, gamma 1							65.0	68.0	67.0					17																	40762134		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40762134G>C	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.58G>C	17.37:g.40762134G>C	ENSP00000251413:p.Glu20Gln					FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron	p.E20Q	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	2	456	+		Breast(137;0.00116)	20					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.58G>C	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246933	0.59103	.	.	ENSG00000131462	ENST00000251413	T	0.71341	-0.56	5.51	4.55	0.56014	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.64402	D	0.000005	T	0.65903	0.2736	L	0.45285	1.41	0.58432	D	0.999996	B	0.34399	0.452	B	0.40009	0.316	T	0.64076	-0.6492	10	0.33141	T	0.24	-11.6569	12.4744	0.55805	0.0774:0.0:0.9226:0.0	.	20	P23258	TBG1_HUMAN	Q	20	ENSP00000251413:E20Q	ENSP00000251413:E20Q	E	+	1	0	TUBG1	38015660	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.378000	0.97191	1.591000	0.50007	-0.141000	0.14075	GAG		0.627	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1		NM_001070		30	59	0	0	0	0.054565	0	30	59		
BECN1	8678	broad.mit.edu	37	17	40963765	40963765	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:40963765C>G	ENST00000361523.4	-	11	1224	c.1092G>C	c.(1090-1092)aaG>aaC	p.K364N	BECN1_ENST00000590099.1_Missense_Mutation_p.K364N|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	364					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CATGGTCAAACTTGTTGTCCC	0.493																																						uc002ibo.3		NaN																	0				ovary(1)	1						c.(1090-1092)AAG>AAC		beclin 1							161.0	145.0	150.0					17																	40963765		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40963765C>G	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1092G>C	17.37:g.40963765C>G	ENSP00000355231:p.Lys364Asn					BECN1_uc010whb.1_Missense_Mutation_p.K277N|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.K364N	p.K364N	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	11	1227	-		Breast(137;0.00104)	364					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.1092G>C	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652638	0.67472	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.49720	0.77	6.17	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68872	-0.5294	10	0.51188	T	0.08	.	13.5379	0.61657	0.0:0.8712:0.0:0.1288	.	364	Q14457	BECN1_HUMAN	N	364;277	ENSP00000355231:K364N	ENSP00000355231:K364N	K	-	3	2	BECN1	38217291	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.304000	0.19228	1.625000	0.50366	0.655000	0.94253	AAG		0.493	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1		NM_003766		29	64	0	0	0	0.059317	0	29	64		
MPP2	4355	broad.mit.edu	37	17	41958843	41958843	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:41958843C>A	ENST00000461854.1	-	8	953	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	MPP2_ENST00000377184.3_Missense_Mutation_p.D283Y|MPP2_ENST00000518766.1_Missense_Mutation_p.D311Y|MPP2_ENST00000269095.4_Missense_Mutation_p.D266Y|MPP2_ENST00000520305.1_Missense_Mutation_p.D127Y|MPP2_ENST00000523501.1_Missense_Mutation_p.D255Y|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000536246.1_Missense_Mutation_p.D255Y			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	290	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGTTGGCATCATCCTGGTTT	0.627																																						uc010wip.1		NaN																	0					0						c.(931-933)GAT>TAT		palmitoylated membrane protein 2							92.0	83.0	86.0					17																	41958843		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958843C>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.868G>T	17.37:g.41958843C>A	ENSP00000428286:p.Asp290Tyr					MPP2_uc002ien.1_Missense_Mutation_p.D283Y|MPP2_uc010wim.1_Missense_Mutation_p.D255Y|MPP2_uc002ieo.1_Missense_Mutation_p.D266Y|MPP2_uc010win.1_Missense_Mutation_p.D127Y|MPP2_uc010wio.1_Missense_Mutation_p.D255Y	p.D311Y	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	7	988	-		Breast(137;0.00314)	290			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.931G>T		.	.	.	.	.	.	.	.	.	.	c	24.4	4.524550	0.85600	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.1	5.1	0.69264	.	.	.	.	.	D	0.95385	0.8502	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96854	0.9627	9	0.87932	D	0	.	16.1263	0.81397	0.0:1.0:0.0:0.0	.	311;283	E7EV80;Q14168-3	.;.	Y	283;266;290;127;255;255;311	ENSP00000366389:D283Y;ENSP00000269095:D266Y;ENSP00000428286:D290Y;ENSP00000428136:D127Y;ENSP00000430540:D255Y;ENSP00000438012:D255Y;ENSP00000428182:D311Y	ENSP00000269095:D266Y	D	-	1	0	MPP2	39314369	1.000000	0.71417	0.452000	0.26994	0.969000	0.65631	7.623000	0.83113	2.662000	0.90505	0.555000	0.69702	GAT		0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2		NM_005374		37	75	1	0	1.30916e-28	0.139131	1.45348e-28	37	75		
ACE	1636	broad.mit.edu	37	17	61566090	61566090	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:61566090G>C	ENST00000290866.4	+	16	2411	c.2387G>C	c.(2386-2388)aGa>aCa	p.R796T	ACE_ENST00000413513.3_Missense_Mutation_p.R222T|ACE_ENST00000577647.1_Missense_Mutation_p.R222T|ACE_ENST00000428043.1_Missense_Mutation_p.R796T|ACE_ENST00000290863.6_Missense_Mutation_p.R222T|ACE_ENST00000490216.2_Missense_Mutation_p.R222T|ACE_ENST00000421982.2_Missense_Mutation_p.R106T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	796	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AAGGCGGGGAGAGCCATCCTC	0.562																																						uc002jau.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2386-2388)AGA>ACA		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						119.0	104.0	109.0					17																	61566090		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566090G>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2387G>C	17.37:g.61566090G>C	ENSP00000290866:p.Arg796Thr					ACE_uc002jav.1_Missense_Mutation_p.R222T|ACE_uc010ddv.1_Missense_Mutation_p.R23T|ACE_uc010wpj.1_Missense_Mutation_p.R222T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R106T	p.R796T	NM_000789	NP_000780	P12821	ACE_HUMAN			16	2409	+			796			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2387G>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	3.580	-0.085795	0.07097	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.43	5.93	0.62	0.17637	.	0.275577	0.44688	D	0.000440	T	0.26629	0.0651	L	0.46885	1.475	0.09310	N	1	B;B;B;P	0.48834	0.203;0.041;0.099;0.916	B;B;B;P	0.44477	0.061;0.051;0.024;0.451	T	0.14448	-1.0472	10	0.20046	T	0.44	-2.8662	5.3434	0.15996	0.4606:0.1433:0.3961:0.0	.	106;222;222;796	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	T	796;796;222;222;106	ENSP00000290866:R796T;ENSP00000397593:R796T;ENSP00000290863:R222T;ENSP00000392247:R222T;ENSP00000387760:R106T	ENSP00000290863:R222T	R	+	2	0	ACE	58919822	0.586000	0.26782	0.330000	0.25442	0.005000	0.04900	1.519000	0.35888	0.418000	0.25898	-0.291000	0.09656	AGA		0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				30	45	0	0	0	0.064281	0	30	45		
HELZ	9931	broad.mit.edu	37	17	65141908	65141908	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:65141908C>T	ENST00000358691.5	-	21	2886	c.2720G>A	c.(2719-2721)gGa>gAa	p.G907E	HELZ_ENST00000580168.1_Missense_Mutation_p.G908E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	907						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACATCTTCTCCTCGTGCTGT	0.378																																						uc010wqk.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(2722-2724)GGA>GAA		helicase with zinc finger domain							89.0	88.0	88.0					17																	65141908		1832	4081	5913	SO:0001583	missense	9931							g.chr17:65141908C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2720G>A	17.37:g.65141908C>T	ENSP00000351524:p.Gly907Glu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G907E	p.G908E	NM_014877	NP_055692					21	2910	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2723G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115369	0.56505	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93487	0.6832	10	0.87932	D	0	-13.6782	20.139	0.98050	0.0:1.0:0.0:0.0	.	908;907	B7ZLW2;P42694	.;HELZ_HUMAN	E	907	ENSP00000351524:G907E	ENSP00000351524:G907E	G	-	2	0	HELZ	62572370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.764000	0.94973	0.655000	0.94253	GGA		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		8	38	0	0	0	0.047766	0	8	38		
KCNJ2	3759	broad.mit.edu	37	17	68171221	68171221	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:68171221C>T	ENST00000243457.3	+	2	424	c.41C>T	c.(40-42)tCa>tTa	p.S14L	KCNJ2_ENST00000535240.1_Missense_Mutation_p.S14L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	14					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ATCGTCTCTTCAGAAGAAGAC	0.517																																						uc010dfg.2		NaN																	0					0						c.(40-42)TCA>TTA		potassium inwardly-rectifying channel J2							70.0	66.0	67.0					17																	68171221		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171221C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.41C>T	17.37:g.68171221C>T	ENSP00000243457:p.Ser14Leu					KCNJ2_uc002jir.2_Missense_Mutation_p.S14L	p.S14L	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	442	+	Breast(10;1.64e-08)		14			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.41C>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127398	0.56721	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.35605	1.3;1.3	5.79	5.79	0.91817	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.245246	0.38837	N	0.001542	T	0.37210	0.0995	L	0.52573	1.65	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.10382	-1.0632	9	.	.	.	.	20.0435	0.97601	0.0:1.0:0.0:0.0	.	14	P63252	IRK2_HUMAN	L	14	ENSP00000441848:S14L;ENSP00000243457:S14L	.	S	+	2	0	KCNJ2	65682816	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.818000	0.86416	2.731000	0.93534	0.650000	0.86243	TCA		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891		19	22	0	0	0	0.0918	0	19	22		
EPB41L3	23136	broad.mit.edu	37	18	5394743	5394743	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:5394743G>A	ENST00000341928.2	-	22	3543	c.3203C>T	c.(3202-3204)tCa>tTa	p.S1068L	EPB41L3_ENST00000540638.2_Missense_Mutation_p.S846L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S846L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S365L|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S373L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S1068L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1068	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTGGTCACTGACATGTCAGG	0.502																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.(3202-3204)TCA>TTA		erythrocyte membrane protein band 4.1-like 3							246.0	195.0	212.0					18																	5394743		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394743G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3203C>T	18.37:g.5394743G>A	ENSP00000343158:p.Ser1068Leu					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.S846L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S737L|EPB41L3_uc002kms.1_Missense_Mutation_p.S303L|EPB41L3_uc010wze.1_Missense_Mutation_p.S373L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S365L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S340L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S460L	p.S1068L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			22	3289	-			1068			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3203C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462991	0.84425	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.86066	0.5844	L	0.56340	1.77	0.80722	D	1	D;D;P;D;B;D;D	0.89917	0.997;0.999;0.926;0.98;0.175;1.0;0.993	D;D;P;P;B;D;D	0.91635	0.989;0.984;0.888;0.858;0.237;0.999;0.974	T	0.82444	-0.0454	10	0.30078	T	0.28	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	365;373;460;737;846;1068;303	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	L	1068;737;737;365;373;1068;846	ENSP00000343158:S1068L;ENSP00000392195:S365L;ENSP00000442233:S373L;ENSP00000341138:S1068L;ENSP00000382981:S846L	ENSP00000343158:S1068L	S	-	2	0	EPB41L3	5384743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.767000	0.95098	0.655000	0.94253	TCA		0.502	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		24	74	0	0	0	0.099896	0	24	74		
SYT4	6860	broad.mit.edu	37	18	40854029	40854029	+	Missense_Mutation	SNP	G	G	T	rs373100677		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:40854029G>T	ENST00000255224.3	-	2	733	c.365C>A	c.(364-366)aCc>aAc	p.T122N	SYT4_ENST00000590752.1_Missense_Mutation_p.T104N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	122					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						GAGCTTCGGGGTTGCATTCTC	0.433																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NaN																	0				skin(5)	5						c.(364-366)ACC>AAC		synaptotagmin IV							109.0	108.0	108.0					18																	40854029		2202	4299	6501	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854029G>T	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.365C>A	18.37:g.40854029G>T	ENSP00000255224:p.Thr122Asn					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.T104N|SYT4_uc010dnh.2_Intron	p.T122N	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	734	-			122			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.365C>A	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393721	0.25205	.	.	ENSG00000132872	ENST00000255224	T	0.36340	1.26	5.87	5.87	0.94306	.	0.148239	0.64402	D	0.000010	T	0.28797	0.0714	L	0.36672	1.1	0.41086	D	0.985567	B;B	0.24823	0.112;0.047	B;B	0.21708	0.036;0.036	T	0.05699	-1.0869	10	0.15952	T	0.53	.	14.7159	0.69269	0.069:0.0:0.931:0.0	.	104;122	B4DEU3;Q9H2B2	.;SYT4_HUMAN	N	122	ENSP00000255224:T122N	ENSP00000255224:T122N	T	-	2	0	SYT4	39108027	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.223000	0.51231	2.941000	0.99782	0.655000	0.94253	ACC		0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2		NM_020783		22	49	1	0	9.78306e-22	0.144211	1.08189e-21	22	49		
CCDC102B	79839	broad.mit.edu	37	18	66504371	66504371	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:66504371G>A	ENST00000360242.5	+	2	488	c.371G>A	c.(370-372)aGa>aAa	p.R124K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R124K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R124K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R124K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	124										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGACAACTCAGAATAAAACTA	0.458																																						uc002lkk.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(370-372)AGA>AAA		coiled-coil domain containing 102B							92.0	90.0	91.0					18																	66504371		1917	4135	6052	SO:0001583	missense	79839							g.chr18:66504371G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.371G>A	18.37:g.66504371G>A	ENSP00000353377:p.Arg124Lys					CCDC102B_uc002lki.2_Missense_Mutation_p.R124K|CCDC102B_uc002lkj.1_Missense_Mutation_p.R124K	p.R124K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	594	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	124			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.371G>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097980	0.56183	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.48836	0.8;0.8;0.8	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000020	T	0.66015	0.2747	M	0.71036	2.16	0.32096	N	0.591256	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.67776	-0.5583	10	0.20519	T	0.43	-15.4641	15.9649	0.79961	0.0:0.0:1.0:0.0	.	124;124	Q68D86-3;Q68D86	.;C102B_HUMAN	K	124	ENSP00000316237:R124K;ENSP00000351479:R124K;ENSP00000353377:R124K	ENSP00000316237:R124K	R	+	2	0	CCDC102B	64655351	0.981000	0.34729	0.053000	0.19242	0.899000	0.52679	3.280000	0.51677	2.446000	0.82766	0.460000	0.39030	AGA		0.458	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2		NM_024781		18	29	0	0	0	0.069288	0	18	29		
ZNF57	126295	broad.mit.edu	37	19	2917729	2917729	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:2917729G>A	ENST00000306908.5	+	4	1258	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	ZNF57_ENST00000523428.1_Silent_p.G338G|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAATGTGGGAAAGCCTTCA	0.433																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1108-1110)GGG>GGA		zinc finger protein 57							87.0	78.0	81.0					19																	2917729		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917729G>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1110G>A	19.37:g.2917729G>A						ZNF57_uc010xha.1_Silent_p.G338G	p.G370G	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1258	+			370			C2H2-type 8.		Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.1110G>A	CCDS12098.1																																																																																				0.433	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1		NM_173480		3	60	0	0	0	0.115264	0	3	60		
TJP3	27134	broad.mit.edu	37	19	3735874	3735874	+	Silent	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:3735874C>G	ENST00000541714.2	+	10	1530	c.1068C>G	c.(1066-1068)ccC>ccG	p.P356P	TJP3_ENST00000589378.1_Silent_p.P365P|TJP3_ENST00000382008.3_Silent_p.P370P|TJP3_ENST00000587686.1_Silent_p.P375P|TJP3_ENST00000539908.2_Silent_p.P320P|TJP3_ENST00000262968.9_Silent_p.P389P	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	356					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGTTGCCCAGGGAAAGCA	0.512																																						uc010xhv.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1165-1167)CCC>CCG		tight junction protein 3							142.0	137.0	139.0					19																	3735874		2203	4300	6503	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3735874C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1068C>G	19.37:g.3735874C>G						TJP3_uc010xhs.1_Silent_p.P356P|TJP3_uc010xht.1_Silent_p.P320P|TJP3_uc010xhu.1_Silent_p.P365P|TJP3_uc010xhw.1_Silent_p.P375P	p.P389P	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1167	+			370					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.1167C>G	CCDS32873.2																																																																																				0.512	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1				40	92	0	0	0	0.139131	0	40	92		
DNMT1	1786	broad.mit.edu	37	19	10270402	10270402	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:10270402G>C	ENST00000340748.4	-	16	1399	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	DNMT1_ENST00000359526.4_Missense_Mutation_p.I404M|DNMT1_ENST00000540357.1_Missense_Mutation_p.I388M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	388	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGGCATCAAAGATGGACAGCT	0.537																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(1162-1164)ATC>ATG		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						166.0	145.0	152.0					19																	10270402		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10270402G>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1164C>G	19.37:g.10270402G>C	ENSP00000345739:p.Ile388Met					DNMT1_uc010xlc.1_Missense_Mutation_p.I404M|DNMT1_uc002mnh.2_Missense_Mutation_p.I283M|DNMT1_uc010xld.1_Missense_Mutation_p.I388M	p.I388M	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		16	1344	-			388			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1164C>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194431	0.38806	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.26067	1.76;1.77;1.77	5.07	3.98	0.46160	.	0.191172	0.45867	D	0.000337	T	0.24774	0.0601	L	0.43152	1.355	0.39670	D	0.970741	P;P;B	0.40230	0.488;0.708;0.356	B;B;B	0.43413	0.419;0.419;0.24	T	0.03325	-1.1048	10	0.72032	D	0.01	.	8.5486	0.33438	0.1787:0.0:0.8213:0.0	.	388;404;388	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	404;388;388;256	ENSP00000352516:I404M;ENSP00000440457:I388M;ENSP00000345739:I388M	ENSP00000345739:I388M	I	-	3	3	DNMT1	10131402	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	0.698000	0.25571	2.643000	0.89663	0.455000	0.32223	ATC		0.537	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		18	60	0	0	0	0.049695	0	18	60		
ZNF491	126069	broad.mit.edu	37	19	11916930	11916930	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:11916930G>C	ENST00000323169.5	+	3	493	c.162G>C	c.(160-162)agG>agC	p.R54S	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CCTTTAATAGGAACATCAGAA	0.393																																						uc002mso.1		NaN																	0				ovary(2)	2						c.(160-162)AGG>AGC		zinc finger protein 491							68.0	72.0	70.0					19																	11916930		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11916930G>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.162G>C	19.37:g.11916930G>C	ENSP00000313443:p.Arg54Ser						p.R54S	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	447	+			54			C2H2-type 1; degenerate.		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.162G>C	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	4.624	0.115994	0.08831	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.16073	2.37;2.37	1.01	-0.0683	0.13756	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06142	0.0159	L	0.31526	0.94	0.09310	N	1	P	0.41232	0.743	B	0.20955	0.032	T	0.30119	-0.9989	9	0.08381	T	0.77	.	3.6954	0.08362	0.5098:0.0:0.4902:0.0	.	54	Q8N8L2	ZN491_HUMAN	S	54	ENSP00000313443:R54S;ENSP00000392176:R54S	ENSP00000313443:R54S	R	+	3	2	ZNF491	11777930	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.003000	0.03682	0.010000	0.14839	0.505000	0.49811	AGG		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1		NM_152356		16	31	0	0	0	0.043863	0	16	31		
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378																																						uc002mtu.2		NaN																	0				pancreas(1)	1						c.(703-705)TCT>CCT		zinc finger protein 443							126.0	131.0	129.0					19																	12542283		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542283A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.703T>C	19.37:g.12542283A>G	ENSP00000301547:p.Ser235Pro						p.S235P	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	901	-			235			C2H2-type 4.			Missense_Mutation	SNP	ENST00000301547.5	37	c.703T>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228421	0.22542	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.14	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37957	-0.9683	9	0.38643	T	0.18	.	0.917	0.01307	0.1632:0.1613:0.3196:0.3559	.	235	Q9Y2A4	ZN443_HUMAN	P	235	ENSP00000301547:S235P	ENSP00000301547:S235P	S	-	1	0	ZNF443	12403283	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	-1.539000	0.02202	-2.594000	0.00455	-1.868000	0.00555	TCT		0.378	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1		NM_005815		7	133	0	0	0	0.058154	0	7	133		
ZNF443	10224	broad.mit.edu	37	19	12542302	12542302	+	Silent	SNP	C	C	T	rs544462649		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:12542302C>T	ENST00000301547.5	-	4	881	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	228					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAGAACACTGCTTACATTCAT	0.373													.|||	1	0.000199681	0.0	0.0	5008	,	,		23379	0.0		0.0	False		,,,				2504	0.001					uc002mtu.2		NaN																	0				pancreas(1)	1						c.(682-684)AAG>AAA		zinc finger protein 443							116.0	120.0	119.0					19																	12542302		2203	4299	6502	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542302C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.684G>A	19.37:g.12542302C>T							p.K228K	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	882	-			228			C2H2-type 4.			Silent	SNP	ENST00000301547.5	37	c.684G>A	CCDS32918.1																																																																																				0.373	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1		NM_005815		6	123	0	0	0	0.02938	0	6	123		
ZNF737	100129842	broad.mit.edu	37	19	20727612	20727612	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:20727612G>C	ENST00000427401.4	-	4	1491	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTAAGGTGTGAGGACGAGTT	0.413																																						uc002npa.2		NaN																	0				ovary(1)	1						c.(1396-1398)TCA>TGA		zinc finger protein 737							91.0	90.0	90.0					19																	20727612		692	1591	2283	SO:0001587	stop_gained	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727612G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1397C>G	19.37:g.20727612G>C	ENSP00000395733:p.Ser466*						p.S466*	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1577	-			466					C9JHM3	Nonsense_Mutation	SNP	ENST00000427401.4	37	c.1397C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	12.26	1.885384	0.33255	.	.	ENSG00000237440	ENST00000427401	.	.	.	0.867	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.47276	D	0.999374	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.8735	0.18816	0.0:0.3295:0.6705:0.0	.	.	.	.	X	466	.	ENSP00000395733:S466X	S	-	2	0	ZNF737	20519452	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.229000	0.09098	0.284000	0.22305	0.289000	0.19496	TCA		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		31	54	0	0	0	0.064281	0	31	54		
SPRED3	399473	broad.mit.edu	37	19	38881044	38881044	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:38881044C>T	ENST00000338502.4	+	1	205	c.102C>T	c.(100-102)gtC>gtT	p.V34V	SPRED3_ENST00000586301.1_Silent_p.V34V|GGN_ENST00000591809.1_5'Flank|SPRED3_ENST00000587013.1_Intron|GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	34	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGTCGGGTCCGAGGGGCCA	0.731																																						uc002oim.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(100-102)GTC>GTT		sprouty-related, EVH1 domain containing 3							8.0	9.0	9.0					19																	38881044		1863	4038	5901	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38881044C>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.102C>T	19.37:g.38881044C>T						GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Silent_p.V34V	p.V34V	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	106	+	all_cancers(60;3.4e-06)		34			WH1.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.102C>T	CCDS42560.1																																																																																				0.731	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1		XM_351191		4	8	0	0	0	0.009096	0	4	8		
SERTAD1	29950	broad.mit.edu	37	19	40928872	40928872	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:40928872G>C	ENST00000357949.4	-	2	740	c.582C>G	c.(580-582)ctC>ctG	p.L194L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	194					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCTGGTTTGAGGCCCTCAG	0.582																																						uc002ont.3		NaN																	0					0						c.(580-582)CTC>CTG		SERTA domain containing 1							24.0	21.0	22.0					19																	40928872		2203	4300	6503	SO:0001819	synonymous_variant	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40928872G>C	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.582C>G	19.37:g.40928872G>C							p.L194L	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	741	-			194					Q9BUE7	Silent	SNP	ENST00000357949.4	37	c.582C>G	CCDS12557.1																																																																																				0.582	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1		NM_013376		4	6	0	0	0	0.009096	0	4	6		
CYP2B6	1555	broad.mit.edu	37	19	41518309	41518309	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:41518309G>C	ENST00000324071.4	+	7	1078	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	CYP2B6_ENST00000330446.5_Missense_Mutation_p.Q157H|CYP2B6_ENST00000593831.1_Missense_Mutation_p.Q121H	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	357					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ATGAGATTCAGAGATTTTCCG	0.537																																						uc002opr.1		NaN																	0				ovary(1)|skin(1)	2						c.(1069-1071)CAG>CAC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						124.0	98.0	107.0					19																	41518309		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518309G>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1071G>C	19.37:g.41518309G>C	ENSP00000324648:p.Gln357His					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.Q157H	p.Q357H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		7	1078	+			357					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1071G>C	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	17.48	3.400075	0.62177	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.70631	-0.5;-0.5	4.3	4.3	0.51218	.	0.062472	0.64402	D	0.000003	D	0.85716	0.5761	M	0.89214	3.015	0.45227	D	0.998238	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88702	0.3216	10	0.87932	D	0	.	14.32	0.66479	0.0:0.0:1.0:0.0	.	157;357	B4DWP3;P20813	.;CP2B6_HUMAN	H	357;157	ENSP00000324648:Q357H;ENSP00000330650:Q157H	ENSP00000324648:Q357H	Q	+	3	2	CYP2B6	46210149	1.000000	0.71417	0.999000	0.59377	0.235000	0.25334	5.008000	0.63991	2.219000	0.72066	0.298000	0.19748	CAG		0.537	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1		NM_000767		26	45	0	0	0	0.045705	0	26	45		
C19orf73	55150	broad.mit.edu	37	19	49622031	49622031	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:49622031G>A	ENST00000408991.2	-	1	366	c.249C>T	c.(247-249)tcC>tcT	p.S83S	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	83										large_intestine(1)|lung(2)	3						AAACGCAGCCGGAGCCAGTGG	0.657																																						uc002pmq.3		NaN																	0				large_intestine(1)	1						c.(247-249)TCC>TCT		hypothetical protein LOC55150							48.0	59.0	56.0					19																	49622031		2081	4208	6289	SO:0001819	synonymous_variant	55150							g.chr19:49622031G>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.249C>T	19.37:g.49622031G>A						PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	p.S83S	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN			1	367	-			83					Q6NSX4	Silent	SNP	ENST00000408991.2	37	c.249C>T	CCDS42589.1																																																																																				0.657	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1		NM_018111		3	83	0	0	0	0.009096	0	3	83		
KLK6	5653	broad.mit.edu	37	19	51470539	51470539	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:51470539C>T	ENST00000376851.3	-	3	522	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	KLK6_ENST00000594641.1_Missense_Mutation_p.C28Y|KLK6_ENST00000376853.4_Missense_Mutation_p.C28Y|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.C28Y	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	28	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGTCTTGTCGCAGGGTCCGCC	0.587																																						uc002pui.2		NaN																	0					0						c.(82-84)TGC>TAC		kallikrein-related peptidase 6 isoform A							134.0	119.0	124.0					19																	51470539		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51470539C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.83G>A	19.37:g.51470539C>T	ENSP00000366047:p.Cys28Tyr					KLK6_uc010eoj.2_Missense_Mutation_p.C28Y|KLK6_uc002puh.2_Missense_Mutation_p.C37Y|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.C28Y|KLK6_uc002pum.2_Intron	p.C28Y	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	343	-		all_neural(266;0.026)	28			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.83G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571573	0.45798	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853	D;D;D	0.92858	-3.12;-3.12;-1.5	4.31	3.27	0.37495	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001255	D	0.95076	0.8405	M	0.78223	2.4	0.41223	D	0.986521	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.94867	0.8027	10	0.87932	D	0	.	10.0762	0.42362	0.0:0.9002:0.0:0.0998	.	28;28	E7ETY0;Q92876	.;KLK6_HUMAN	Y	28	ENSP00000309148:C28Y;ENSP00000366047:C28Y;ENSP00000366049:C28Y	ENSP00000309148:C28Y	C	-	2	0	KLK6	56162351	0.996000	0.38824	0.043000	0.18650	0.007000	0.05969	4.573000	0.60893	1.162000	0.42619	0.555000	0.69702	TGC		0.587	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1		NM_002774		10	25	0	0	0	0.105934	0	10	25		
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:53855196T>C	ENST00000595091.1	+	5	1487	c.1268T>C	c.(1267-1269)aTg>aCg	p.M423T	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGATGTCATCCCTT	0.408																																						uc010ydv.1		NaN																	0					0						c.(1267-1269)ATG>ACG		zinc finger protein 845							46.0	41.0	43.0					19																	53855196		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855196T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1268T>C	19.37:g.53855196T>C	ENSP00000470005:p.Met423Thr					ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1385	+			423			C2H2-type 8.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1268T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.858806	0.00558	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11965	0.0291	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20806	-1.0264	9	0.20519	T	0.43	.	3.2786	0.06907	0.4659:0.0:0.2133:0.3208	.	423	Q96IR2	ZN845_HUMAN	T	423	ENSP00000388311:M423T	ENSP00000412086:M423T	M	+	2	0	ZNF845	58547008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.616000	0.00413	-1.378000	0.02120	-0.871000	0.02989	ATG		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		5	171	0	0	0	0.058154	0	5	171		
ZNF761	388561	broad.mit.edu	37	19	53958360	53958360	+	RNA	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:53958360C>A	ENST00000454407.1	+	0	1052							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S146*(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGGAATTCTTCATTACTCACA	0.373																																						uc010eqp.2		NaN																	1	Substitution - Nonsense(1)	p.S146*(1)	ovary(1)	ovary(1)	1						c.(598-600)TCA>TAA		zinc finger protein 761							95.0	101.0	99.0					19																	53958360		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958360C>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958360C>A						ZNF761_uc010ydy.1_Nonsense_Mutation_p.S146*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.S146*	p.S200*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1057	+			200					Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37	c.599C>A																																																																																					0.373	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		31	62	1	0	2.46105e-21	0.045705	2.711e-21	31	62		
LILRA3	11026	broad.mit.edu	37	19	54803053	54803053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:54803053C>T	ENST00000251390.3	-	4	715	c.624G>A	c.(622-624)tgG>tgA	p.W208*	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Nonsense_Mutation_p.W225*	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	208	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGTAGAGACCACACATAGG	0.617																																						uc002qfd.2		NaN																	0				ovary(1)	1						c.(622-624)TGG>TGA		leukocyte immunoglobulin-like receptor,							114.0	99.0	104.0					19																	54803053		2194	4159	6353	SO:0001587	stop_gained	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803053C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.624G>A	19.37:g.54803053C>T	ENSP00000251390:p.Trp208*					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	p.W208*	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	689	-	Ovarian(34;0.19)		208			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Nonsense_Mutation	SNP	ENST00000251390.3	37	c.624G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948663	0.92660	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	.	.	.	2.21	2.21	0.28008	.	0.616877	0.14508	N	0.315279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0472	0.30555	0.0:1.0:0.0:0.0	.	.	.	.	X	208;225	.	ENSP00000251390:W208X	W	-	3	0	LILRA3	59494865	0.741000	0.28217	0.170000	0.22879	0.004000	0.04260	0.720000	0.25896	1.586000	0.49944	0.586000	0.80456	TGG		0.617	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1				30	27	0	0	0	0.064281	0	30	27		
NLRP2	55655	broad.mit.edu	37	19	55494608	55494608	+	Missense_Mutation	SNP	C	C	G	rs553038879		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:55494608C>G	ENST00000543010.1	+	6	1685	c.1542C>G	c.(1540-1542)ttC>ttG	p.F514L	NLRP2_ENST00000538819.1_Missense_Mutation_p.F490L|NLRP2_ENST00000339757.7_Missense_Mutation_p.F492L|NLRP2_ENST00000427260.2_Missense_Mutation_p.F491L|NLRP2_ENST00000391721.4_Missense_Mutation_p.F490L|NLRP2_ENST00000263437.6_Missense_Mutation_p.F511L|NLRP2_ENST00000537859.1_Missense_Mutation_p.F492L|NLRP2_ENST00000448584.2_Missense_Mutation_p.F514L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGCCCTGTTCTACACCCTGG	0.562																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(1540-1542)TTC>TTG		NLR family, pyrin domain containing 2							66.0	62.0	64.0					19																	55494608		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494608C>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1542C>G	19.37:g.55494608C>G	ENSP00000445135:p.Phe514Leu					NLRP2_uc010yfp.1_Missense_Mutation_p.F491L|NLRP2_uc010esn.2_Missense_Mutation_p.F490L|NLRP2_uc010eso.2_Missense_Mutation_p.F511L|NLRP2_uc010esp.2_Missense_Mutation_p.F492L	p.F514L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1628	+			514			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1542C>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903350	0.17760	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75704	-0.92;-0.86;-0.85;-0.92;-0.85;-0.96;-0.86;-0.91	1.9	-1.57	0.08506	.	0.999489	0.08094	N	0.998824	T	0.67496	0.2899	L	0.53729	1.69	0.09310	N	1	B;B;B;B;B	0.21309	0.054;0.05;0.03;0.05;0.03	B;B;B;B;B	0.28784	0.046;0.094;0.043;0.094;0.043	T	0.58306	-0.7659	10	0.51188	T	0.08	.	6.1781	0.20455	0.0:0.3781:0.0:0.6219	.	491;492;511;490;514	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	L	514;490;492;514;492;491;490;511	ENSP00000445135:F514L;ENSP00000375601:F490L;ENSP00000344074:F492L;ENSP00000409370:F514L;ENSP00000440601:F492L;ENSP00000402474:F491L;ENSP00000441133:F490L;ENSP00000263437:F511L	ENSP00000263437:F511L	F	+	3	2	NLRP2	60186420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.526000	0.06207	-0.312000	0.08741	-0.265000	0.10407	TTC		0.562	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		31	49	0	0	0	0.080422	0	31	49		
A1BG	1	broad.mit.edu	37	19	58863655	58863655	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:58863655C>G	ENST00000263100.3	-	4	668	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	203	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCACCGAGCTCCTCAATGGTC	0.607																																						uc002qsd.3		NaN																	0					0						c.(607-609)GAG>CAG		alpha 1B-glycoprotein precursor							89.0	83.0	85.0					19																	58863655		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58863655C>G		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.607G>C	19.37:g.58863655C>G	ENSP00000263100:p.Glu203Gln					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	p.E203Q	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	669	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	203			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.607G>C	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312342	0.23908	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.00545	6.67	3.39	3.39	0.38822	.	0.657478	0.13399	N	0.390778	T	0.01454	0.0047	M	0.68317	2.08	0.20403	N	0.999904	D	0.69078	0.997	P	0.59487	0.858	T	0.50583	-0.8811	10	0.62326	D	0.03	.	10.5741	0.45217	0.0:1.0:0.0:0.0	.	203	P04217	A1BG_HUMAN	Q	203;81	ENSP00000263100:E203Q	ENSP00000263100:E203Q	E	-	1	0	A1BG	63555467	0.004000	0.15560	0.530000	0.27963	0.072000	0.16883	1.887000	0.39698	2.203000	0.70933	0.563000	0.77884	GAG		0.607	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1		NM_130786		19	38	0	0	0	0.069288	0	19	38		
NTSR2	23620	broad.mit.edu	37	2	11802346	11802346	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:11802346G>A	ENST00000306928.5	-	2	679	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	215					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGGGAGCACGAAGGACACCA	0.642																																						uc002rbq.3		NaN																	0					0						c.(643-645)TTC>TTT		neurotensin receptor 2	Levocabastine(DB01106)						90.0	98.0	95.0					2																	11802346		2201	4298	6499	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11802346G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.645C>T	2.37:g.11802346G>A							p.F215F	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	719	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		215			Extracellular (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.645C>T	CCDS1681.1																																																																																				0.642	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1				8	141	0	0	0	0.058154	0	8	141		
CAPN13	92291	broad.mit.edu	37	2	30976054	30976054	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:30976054G>C	ENST00000295055.8	-	10	1128	c.952C>G	c.(952-954)Caa>Gaa	p.Q318E	CAPN13_ENST00000534090.2_Missense_Mutation_p.Q318E	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	318	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGAAATCTTGACACGACATC	0.453																																						uc002rnn.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(952-954)CAA>GAA		calpain 13							160.0	143.0	149.0					2																	30976054		1908	4119	6027	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30976054G>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.952C>G	2.37:g.30976054G>C	ENSP00000295055:p.Gln318Glu					CAPN13_uc002rnp.1_Missense_Mutation_p.Q318E	p.Q318E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			10	1128	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		318			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.952C>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920261	0.17982	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.13196	2.61;2.61	5.27	4.36	0.52297	Peptidase C2, calpain, catalytic domain (3);	0.382752	0.31747	N	0.007131	T	0.06325	0.0163	N	0.11341	0.13	0.34127	D	0.664867	B	0.27068	0.167	B	0.26864	0.074	T	0.18366	-1.0339	10	0.02654	T	1	.	11.6151	0.51086	0.0:0.18:0.82:0.0	.	318	Q6MZZ7	CAN13_HUMAN	E	318	ENSP00000295055:Q318E;ENSP00000431298:Q318E	ENSP00000295055:Q318E	Q	-	1	0	CAPN13	30829558	0.998000	0.40836	0.998000	0.56505	0.587000	0.36485	1.938000	0.40203	1.167000	0.42706	0.561000	0.74099	CAA		0.453	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2		NM_144575		21	45	0	0	0	0.099896	0	21	45		
PRKD3	23683	broad.mit.edu	37	2	37481367	37481367	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:37481367G>A	ENST00000379066.1	-	18	3241	c.2479C>T	c.(2479-2481)Ctt>Ttt	p.L827F	PRKD3_ENST00000234179.2_Missense_Mutation_p.L827F			O94806	KPCD3_HUMAN	protein kinase D3	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GGATGACTAAGAGATTTGTCA	0.368																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(2479-2481)CTT>TTT		protein kinase D3							131.0	128.0	129.0					2																	37481367		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37481367G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2479C>T	2.37:g.37481367G>A	ENSP00000368356:p.Leu827Phe						p.L827F	NM_005813	NP_005804	O94806	KPCD3_HUMAN			17	3034	-		all_hematologic(82;0.21)	827			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.2479C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349715	0.95830	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.52526	0.66;0.66	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.69033	0.3066	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.70687	-0.4803	10	0.87932	D	0	-13.4875	19.7838	0.96428	0.0:0.0:1.0:0.0	.	827	O94806	KPCD3_HUMAN	F	827	ENSP00000368356:L827F;ENSP00000234179:L827F	ENSP00000234179:L827F	L	-	1	0	PRKD3	37334871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.829000	0.99411	2.671000	0.90904	0.655000	0.94253	CTT		0.368	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		23	30	0	0	0	0.108266	0	23	30		
THUMPD2	80745	broad.mit.edu	37	2	39964112	39964112	+	Silent	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:39964112A>T	ENST00000505747.1	-	10	1302	c.1275T>A	c.(1273-1275)ccT>ccA	p.P425P	THUMPD2_ENST00000260619.6_Silent_p.P395P	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	425							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TGGAATTGAAAGGGATGTTGC	0.418																																						uc002rru.2		NaN																	0				skin(1)	1						c.(1273-1275)CCT>CCA		THUMP domain containing 2							171.0	166.0	168.0					2																	39964112		2203	4300	6503	SO:0001819	synonymous_variant	80745						methyltransferase activity	g.chr2:39964112A>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1275T>A	2.37:g.39964112A>T						THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Silent_p.P316P	p.P425P	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			10	1312	-		all_hematologic(82;0.248)	425					A8K7I7|Q53TT8|Q53TV0	Silent	SNP	ENST00000505747.1	37	c.1275T>A	CCDS1805.2																																																																																				0.418	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2		NM_025264		36	62	0	0	0	0.059317	0	36	62		
SPTBN1	6711	broad.mit.edu	37	2	54895611	54895611	+	Missense_Mutation	SNP	G	G	C	rs150630405		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:54895611G>C	ENST00000356805.4	+	36	7281	c.7000G>C	c.(7000-7002)Gtc>Ctc	p.V2334L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2334					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACCAGCGTCGTCACCATCAC	0.567																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(7000-7002)GTC>CTC		spectrin, beta, non-erythrocytic 1 isoform 1							46.0	46.0	46.0					2																	54895611		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54895611G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.7000G>C	2.37:g.54895611G>C	ENSP00000349259:p.Val2334Leu					SPTBN1_uc010you.1_Missense_Mutation_p.V324L	p.V2334L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		36	7249	+			2334					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.7000G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851704	0.32699	.	.	ENSG00000115306	ENST00000356805	T	0.67865	-0.29	5.83	4.96	0.65561	.	0.520353	0.19766	N	0.106550	T	0.63070	0.2480	N	0.08118	0	0.80722	D	1	D;B	0.69078	0.997;0.033	D;B	0.76575	0.988;0.031	T	0.58629	-0.7603	10	0.09084	T	0.74	.	15.0432	0.71807	0.068:0.0:0.932:0.0	.	324;2334	B4DIF8;Q01082	.;SPTB2_HUMAN	L	2334	ENSP00000349259:V2334L	ENSP00000349259:V2334L	V	+	1	0	SPTBN1	54749115	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.009000	0.70745	1.483000	0.48342	0.655000	0.94253	GTC		0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				24	28	0	0	0	0.054565	0	24	28		
CD207	50489	broad.mit.edu	37	2	71060100	71060100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:71060100C>T	ENST00000410009.3	-	4	693	c.648G>A	c.(646-648)tgG>tgA	p.W216*		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	216	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CGGCACTATACCAGGTCTTTG	0.478																																						uc002shg.2		NaN																	0				ovary(1)|lung(1)	2						c.(646-648)TGG>TGA		CD207 antigen, langerin							79.0	79.0	79.0					2																	71060100		1944	4151	6095	SO:0001587	stop_gained	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060100C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.648G>A	2.37:g.71060100C>T	ENSP00000386378:p.Trp216*						p.W216*	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			4	695	-			216			C-type lectin.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000410009.3	37	c.648G>A		.	.	.	.	.	.	.	.	.	.	C	17.04	3.288171	0.59976	.	.	ENSG00000116031	ENST00000410009	.	.	.	5.35	5.35	0.76521	.	0.000000	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9443	0.71016	0.0:1.0:0.0:0.0	.	.	.	.	X	216	.	ENSP00000386378:W216X	W	-	3	0	CD207	70913608	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	3.883000	0.56168	2.663000	0.90544	0.655000	0.94253	TGG		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4		NM_015717		15	36	0	0	0	0.146539	0	15	36		
MOGS	7841	broad.mit.edu	37	2	74691751	74691751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:74691751G>A	ENST00000233616.4	-	2	613	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.H151Y|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.H45Y	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	151					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGCCGTCGTGGAACTCCCAG	0.652																																						uc010ffj.2		NaN																	0					0						c.(451-453)CAC>TAC		mannosyl-oligosaccharide glucosidase isoform 1							55.0	63.0	60.0					2																	74691751		1957	4161	6118	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74691751G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.451C>T	2.37:g.74691751G>A	ENSP00000233616:p.His151Tyr					MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.H32Y|MOGS_uc010ffi.2_Missense_Mutation_p.H45Y|MOGS_uc010yru.1_Intron	p.H151Y	NM_006302	NP_006293	Q13724	MOGS_HUMAN			2	614	-			151			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.451C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358100	0.95854	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30534	-0.9975	10	0.17832	T	0.49	-20.3843	16.6817	0.85294	0.0:0.0:1.0:0.0	.	151	Q13724	MOGS_HUMAN	Y	151;45;151;45;32	ENSP00000233616:H151Y;ENSP00000388201:H45Y;ENSP00000386493:H151Y;ENSP00000410992:H45Y;ENSP00000396298:H32Y	ENSP00000233616:H151Y	H	-	1	0	MOGS	74545259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.342000	0.90049	2.793000	0.96121	0.655000	0.94253	CAC		0.652	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		33	55	0	0	0	0.09836	0	33	55		
M1AP	130951	broad.mit.edu	37	2	74842183	74842183	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:74842183G>A	ENST00000290536.5	-	3	450	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.L112L|M1AP_ENST00000536235.1_Silent_p.L112L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	112					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCCAGCCGCAGAGAAGCACCT	0.507																																						uc002smy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(334-336)CTG>TTG		hypothetical protein LOC130951							191.0	168.0	176.0					2																	74842183		2203	4300	6503	SO:0001819	synonymous_variant	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74842183G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.334C>T	2.37:g.74842183G>A						C2orf65_uc010ysa.1_Silent_p.L112L|C2orf65_uc002smz.2_Silent_p.L112L	p.L112L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			3	451	-			112					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.334C>T	CCDS33229.1																																																																																				0.507	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1		NM_138804		32	87	0	0	0	0.104719	0	32	87		
LYG2	254773	broad.mit.edu	37	2	99861855	99861855	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:99861855A>T	ENST00000409238.1	-	3	271	c.251T>A	c.(250-252)aTc>aAc	p.I84N	LYG2_ENST00000409679.1_Missense_Mutation_p.I84N|LYG2_ENST00000423800.1_Missense_Mutation_p.I84N|LYG2_ENST00000333017.2_Missense_Mutation_p.I84N			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	84					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.I84T(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GACTTCTTTGATCAGAGTCTG	0.512																																						uc002szw.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(250-252)ATC>AAC		lysozyme G-like 2 precursor							106.0	96.0	99.0					2																	99861855		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99861855A>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.251T>A	2.37:g.99861855A>T	ENSP00000386939:p.Ile84Asn					MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.I84N|LYG2_uc002szx.1_Missense_Mutation_p.I84N	p.I84N	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN			4	364	-			84					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.251T>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321280	0.81580	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.78	5.78	0.91487	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.000000	0.64402	D	0.000005	T	0.81898	0.4920	M	0.89715	3.055	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.85212	0.1021	8	.	.	.	-4.7898	12.4959	0.55927	1.0:0.0:0.0:0.0	.	84;84;84	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	N	84	.	.	I	-	2	0	LYG2	99228287	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.734000	0.74801	2.216000	0.71823	0.454000	0.30748	ATC		0.512	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1		NM_175735		14	44	0	0	0	0.146539	0	14	44		
WDR33	55339	broad.mit.edu	37	2	128477268	128477268	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:128477268C>A	ENST00000322313.4	-	16	2489	c.2331G>T	c.(2329-2331)atG>atT	p.M777I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	777					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GATTCAATCCCATCAGAGGTC	0.602																																						uc002tpg.1		NaN																	0					0						c.(2329-2331)ATG>ATT		WD repeat domain 33 isoform 1							30.0	34.0	33.0					2																	128477268		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477268C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2331G>T	2.37:g.128477268C>A	ENSP00000325377:p.Met777Ile						p.M777I	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2514	-	Colorectal(110;0.1)		777					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2331G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645234	0.47258	.	.	ENSG00000136709	ENST00000322313	D	0.89343	-2.5	5.57	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	N	0.08118	0	0.80722	D	1	B	0.18461	0.028	B	0.12156	0.007	T	0.69946	-0.5007	10	0.30078	T	0.28	-5.3137	10.9456	0.47299	0.0:0.8517:0.0:0.1483	.	777	Q9C0J8	WDR33_HUMAN	I	777	ENSP00000325377:M777I	ENSP00000325377:M777I	M	-	3	0	WDR33	128193738	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.975000	0.56859	1.360000	0.45960	0.591000	0.81541	ATG		0.602	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		4	9	1	0	0.00909568	0.009096	0.00916065	4	9		
TTN	7273	broad.mit.edu	37	2	179432361	179432361	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:179432361C>G	ENST00000591111.1	-	276	73799	c.73575G>C	c.(73573-73575)aaG>aaC	p.K24525N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17293N|TTN_ENST00000342992.6_Missense_Mutation_p.K23598N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17226N|TTN_ENST00000460472.2_Missense_Mutation_p.K17101N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26166N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24525	Fibronectin type-III 78. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGCATTCTTTGCAATGA	0.388																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(70792-70794)AAG>AAC		titin isoform N2-A							83.0	78.0	80.0					2																	179432361		1913	4124	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432361C>G	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.73575G>C	2.37:g.179432361C>G	ENSP00000465570:p.Lys24525Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17293N|TTN_uc010zfi.1_Missense_Mutation_p.K17226N|TTN_uc010zfj.1_Missense_Mutation_p.K17101N	p.K23598N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71018	-			24525					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.70794G>C		.	.	.	.	.	.	.	.	.	.	C	10.07	1.250439	0.22880	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.75	4.87	0.63330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61689	0.2367	M	0.69248	2.105	0.49483	D	0.999791	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.51550	0.673;0.673;0.673;0.673	T	0.66224	-0.5977	9	0.87932	D	0	.	12.5678	0.56320	0.0:0.8624:0.0:0.1376	.	17101;17226;17293;24525	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23598;17101;17293;17226;17099	ENSP00000343764:K23598N;ENSP00000434586:K17101N;ENSP00000340554:K17293N;ENSP00000352154:K17226N	ENSP00000340554:K17293N	K	-	3	2	TTN	179140607	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.574000	0.46016	1.425000	0.47237	0.561000	0.74099	AAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		16	44	0	0	0	0.076483	0	16	44		
TTN	7273	broad.mit.edu	37	2	179497730	179497730	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:179497730G>A	ENST00000591111.1	-	184	38429	c.38205C>T	c.(38203-38205)atC>atT	p.I12735I	TTN_ENST00000342175.6_Silent_p.I5503I|TTN_ENST00000342992.6_Silent_p.I11808I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.I5436I|TTN_ENST00000460472.2_Silent_p.I5311I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.I14376I			Q8WZ42	TITIN_HUMAN	titin	12735					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTATGAAGGATCAGAATAT	0.408																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35422-35424)ATC>ATT		titin isoform N2-A							110.0	105.0	107.0					2																	179497730		1872	4115	5987	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497730G>A	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.38205C>T	2.37:g.179497730G>A						TTN_uc010zfh.1_Silent_p.I5503I|TTN_uc010zfi.1_Silent_p.I5436I|TTN_uc010zfj.1_Silent_p.I5311I	p.I11808I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35648	-			12735					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35424C>T																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	19	0	0	0	0.069288	0	20	19		
TRAK2	66008	broad.mit.edu	37	2	202264201	202264201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:202264201C>T	ENST00000332624.3	-	5	807	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	TRAK2_ENST00000430254.1_Missense_Mutation_p.E127K	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	127	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GCAGCGAGTTCCAGATCACGA	0.413																																						uc002uyb.3		NaN																	0					0						c.(379-381)GAA>AAA		trafficking protein, kinesin binding 2							122.0	116.0	118.0					2																	202264201		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202264201C>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.379G>A	2.37:g.202264201C>T	ENSP00000328875:p.Glu127Lys					TRAK2_uc002uyc.2_Missense_Mutation_p.E127K	p.E127K	NM_015049	NP_055864	O60296	TRAK2_HUMAN			5	825	-			127					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.379G>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808672	0.96967	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.20598	2.06;2.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.55444	-0.8140	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	127;127	E7EV21;O60296	.;TRAK2_HUMAN	K	127;33;127	ENSP00000328875:E127K;ENSP00000409333:E127K	ENSP00000328875:E127K	E	-	1	0	TRAK2	201972446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.043000	0.76572	2.885000	0.99019	0.655000	0.94253	GAA		0.413	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3		NM_015049		12	51	0	0	0	0.0333	0	12	51		
COL4A4	1286	broad.mit.edu	37	2	227924258	227924258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:227924258G>T	ENST00000396625.3	-	28	2453	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.S749*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	749	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.S749L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTCCTGGTGAGCCGGGAGG	0.552																																						uc010zlt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2245-2247)TCA>TAA		alpha 4 type IV collagen precursor							66.0	72.0	70.0					2																	227924258		1831	4073	5904	SO:0001587	stop_gained	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924258G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2246C>A	2.37:g.227924258G>T	ENSP00000379866:p.Ser749*						p.S749*	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2900	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	749			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	c.2246C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	40	8.094774	0.98651	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.89	0.884	0.19182	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	6.1676	0.20398	0.2781:0.1222:0.5997:0.0	.	.	.	.	X	749	.	ENSP00000328553:S749X	S	-	2	0	COL4A4	227632502	0.001000	0.12720	0.004000	0.12327	0.944000	0.59088	0.075000	0.14686	0.091000	0.17302	0.655000	0.94253	TCA		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		18	55	1	0	2.37509e-13	0.055883	2.5564e-13	18	55		
TRIP12	9320	broad.mit.edu	37	2	230723895	230723895	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:230723895G>C	ENST00000283943.5	-	3	672	c.494C>G	c.(493-495)tCa>tGa	p.S165*	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S207*|TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S207*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S207*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	165					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGCACCAGTTGATTCAGACCC	0.502																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(493-495)TCA>TGA		thyroid hormone receptor interactor 12							68.0	69.0	68.0					2																	230723895		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723895G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.494C>G	2.37:g.230723895G>C	ENSP00000283943:p.Ser165*					TRIP12_uc002vpx.1_Nonsense_Mutation_p.S207*|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Nonsense_Mutation_p.S165*	p.S165*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	603	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	165					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.494C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954421	0.92726	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	.	.	.	5.71	4.83	0.62350	.	0.448849	0.24483	N	0.038138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.5	0.67714	0.0703:0.0:0.9297:0.0	.	.	.	.	X	165;207;207;207;35	.	ENSP00000283943:S165X	S	-	2	0	TRIP12	230432139	1.000000	0.71417	0.740000	0.30986	0.987000	0.75469	5.718000	0.68455	1.422000	0.47177	0.557000	0.71058	TCA		0.502	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		20	11	0	0	0	0.055883	0	20	11		
SP100	6672	broad.mit.edu	37	2	231308897	231308897	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:231308897C>T	ENST00000264052.5	+	4	630	c.275C>T	c.(274-276)tCt>tTt	p.S92F	SP100_ENST00000340126.4_Missense_Mutation_p.S92F|SP100_ENST00000409112.1_Missense_Mutation_p.S92F|SP100_ENST00000427101.2_Missense_Mutation_p.S67F|SP100_ENST00000409824.1_Missense_Mutation_p.S67F|SP100_ENST00000341950.4_Missense_Mutation_p.S92F|SP100_ENST00000409341.1_Missense_Mutation_p.S92F|SP100_ENST00000409897.1_Missense_Mutation_p.S57F	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	92	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTAAGGATTCTCAAGATTCT	0.363																																						uc002vqt.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(274-276)TCT>TTT		nuclear antigen Sp100 isoform 2							71.0	73.0	72.0					2																	231308897		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231308897C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.275C>T	2.37:g.231308897C>T	ENSP00000264052:p.Ser92Phe					SP100_uc002vqs.2_Missense_Mutation_p.S92F|SP100_uc002vqu.1_Missense_Mutation_p.S92F|SP100_uc010zmb.1_Missense_Mutation_p.S92F|SP100_uc002vqq.1_Missense_Mutation_p.S92F|SP100_uc002vqr.1_Missense_Mutation_p.S67F|SP100_uc010zmc.1_Missense_Mutation_p.S67F|SP100_uc002vqv.1_Missense_Mutation_p.S56F	p.S92F	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	4	416	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	92			HSR.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.275C>T	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.284319	0.00251	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	3.89	-3.2	0.05156	Sp100 (2);	.	.	.	.	D	0.82609	0.5074	N	0.12502	0.225	0.09310	N	1	B;B;B;B;B;P;B;B	0.46952	0.079;0.017;0.097;0.119;0.387;0.887;0.053;0.079	B;B;B;B;B;P;B;B	0.45998	0.026;0.058;0.044;0.067;0.406;0.5;0.085;0.047	T	0.76402	-0.2972	9	0.02654	T	1	.	6.0283	0.19667	0.1288:0.1909:0.5837:0.0966	.	67;92;57;92;92;92;67;92	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	F	92;67;67;67;92;92;92;92;57	ENSP00000264052:S92F;ENSP00000399389:S67F;ENSP00000391616:S67F;ENSP00000387311:S67F;ENSP00000386404:S92F;ENSP00000386427:S92F;ENSP00000343023:S92F;ENSP00000342729:S92F;ENSP00000386998:S57F	ENSP00000264052:S92F	S	+	2	0	SP100	231017141	0.003000	0.15002	0.001000	0.08648	0.297000	0.27493	-1.776000	0.01781	-0.688000	0.05155	-0.310000	0.09108	TCT		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2		NM_003113		14	24	0	0	0	0.146539	0	14	24		
KIF1A	547	broad.mit.edu	37	2	241710491	241710491	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:241710491G>C	ENST00000320389.7	-	14	1369	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.S413*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	404					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GAGCGAGGATGAGGGGCTCAT	0.617																																						uc002vzy.2		NaN																	0				lung(1)	1						c.(1210-1212)TCA>TGA		axonal transport of synaptic vesicles							64.0	77.0	73.0					2																	241710491		2131	4262	6393	SO:0001587	stop_gained	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710491G>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1211C>G	2.37:g.241710491G>C	ENSP00000322791:p.Ser404*					KIF1A_uc010fzk.2_Nonsense_Mutation_p.S413*|KIF1A_uc002vzz.1_Nonsense_Mutation_p.S413*	p.S404*	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	14	1357	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	404					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	c.1211C>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	41	8.611268	0.98884	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.3652	0.83317	0.0:0.0:1.0:0.0	.	.	.	.	X	404;413;413;413	.	ENSP00000322791:S404X	S	-	2	0	KIF1A	241359164	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	9.568000	0.98166	1.848000	0.53677	0.555000	0.69702	TCA		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		13	40	0	0	0	0.132662	0	13	40		
NEU4	129807	broad.mit.edu	37	2	242757402	242757402	+	Silent	SNP	C	C	T	rs372998493		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:242757402C>T	ENST00000391969.2	+	5	1194	c.483C>T	c.(481-483)ccC>ccT	p.P161P	NEU4_ENST00000407683.1_Silent_p.P161P|NEU4_ENST00000404257.1_Silent_p.P173P|NEU4_ENST00000325935.6_Silent_p.P174P|NEU4_ENST00000405370.1_Silent_p.P161P	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	161					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTGTGGGTCCCGGCCACGGCG	0.706																																						uc010fzr.2		NaN																	0					0						c.(481-483)CCC>CCT		sialidase 4			,,,,	2,4396		0,2,2197	27.0	23.0	24.0		522,483,483,483,519	-8.9	0.1	2		24	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	,,,,	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	,,,,	174/498,161/485,161/485,161/485,173/497	242757402	2,12982	2199	4293	6492	SO:0001819	synonymous_variant	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757402C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.483C>T	2.37:g.242757402C>T						NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.P161P|NEU4_uc002wcn.1_Silent_p.P173P|NEU4_uc002wco.1_Silent_p.P161P|NEU4_uc002wcp.1_Silent_p.P173P	p.P161P	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	569	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	161					A8K056|J3KNJ5|Q96D64	Silent	SNP	ENST00000391969.2	37	c.483C>T	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.626126	0.00820	4.55E-4	0.0	ENSG00000204099	ENST00000415936;ENST00000426032	T;T	0.28666	1.6;1.6	4.47	-8.94	0.00768	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59537	-0.7436	7	0.15066	T	0.55	-14.8722	1.361	0.02191	0.31:0.3093:0.0943:0.2865	.	.	.	.	L	76;88	ENSP00000397167:P76L;ENSP00000406678:P88L	ENSP00000397167:P76L	P	+	2	0	NEU4	242406075	0.000000	0.05858	0.073000	0.20177	0.010000	0.07245	-8.864000	0.00016	-4.686000	0.00036	-5.041000	0.00002	CCG		0.706	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2		NM_080741		9	6	0	0	0	0.069234	0	9	6		
JAG1	182	broad.mit.edu	37	20	10621880	10621880	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:10621880C>G	ENST00000254958.5	-	24	3444	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	JAG1_ENST00000423891.2_Missense_Mutation_p.E818Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAAATGTGCTCCGTAGTAAGA	0.408									Alagille Syndrome																													uc002wnw.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2929-2931)GAG>CAG		jagged 1 precursor							81.0	81.0	81.0					20																	10621880		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621880C>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2929G>C	20.37:g.10621880C>G	ENSP00000254958:p.Glu977Gln						p.E977Q	NM_000214	NP_000205	P78504	JAG1_HUMAN			24	3445	-			977			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2929G>C	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075013	0.55646	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87491	-2.22;-2.26	6.07	5.13	0.70059	.	0.090873	0.85682	D	0.000000	D	0.89227	0.6655	L	0.61036	1.89	0.58432	D	0.999999	D	0.56035	0.974	P	0.51701	0.677	D	0.88960	0.3393	10	0.44086	T	0.13	.	15.1212	0.72443	0.0:0.9327:0.0:0.0673	.	977	P78504	JAG1_HUMAN	Q	977;818	ENSP00000254958:E977Q;ENSP00000389519:E818Q	ENSP00000254958:E977Q	E	-	1	0	JAG1	10569880	1.000000	0.71417	0.193000	0.23327	0.208000	0.24298	7.294000	0.78760	1.570000	0.49709	0.655000	0.94253	GAG		0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214		4	62	0	0	0	0.014758	0	4	62		
FOXA2	3170	broad.mit.edu	37	20	22563496	22563496	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:22563496G>T	ENST00000377115.4	-	3	547	c.366C>A	c.(364-366)ggC>ggA	p.G122G	FOXA2_ENST00000419308.2_Silent_p.G128G	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	122					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGGCCAGGCCGCCCATGGCCC	0.756																																						uc002wsn.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(364-366)GGC>GGA		forkhead box A2 isoform 2							15.0	18.0	17.0					20																	22563496		2191	4287	6478	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563496G>T	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.366C>A	20.37:g.22563496G>T						FOXA2_uc002wsm.2_Silent_p.G128G	p.G122G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	556	-	Lung NSC(19;0.188)		122					Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.366C>A	CCDS13147.1																																																																																				0.756	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1				4	19	1	0	0.00024832	0.009096	0.00025557	4	19		
CHD6	84181	broad.mit.edu	37	20	40050336	40050336	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:40050336G>C	ENST00000373233.3	-	31	5116	c.4939C>G	c.(4939-4941)Caa>Gaa	p.Q1647E		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1647					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTACTCATTTGAGAATATGTA	0.423																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4939-4941)CAA>GAA		chromodomain helicase DNA binding protein 6							59.0	61.0	60.0					20																	40050336		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40050336G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4939C>G	20.37:g.40050336G>C	ENSP00000362330:p.Gln1647Glu						p.Q1647E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5117	-		Myeloproliferative disorder(115;0.00425)	1647					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4939C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	4.840	0.156247	0.09236	.	.	ENSG00000124177	ENST00000373233	T	0.71461	-0.57	6.02	6.02	0.97574	.	0.320224	0.27294	N	0.020034	T	0.66287	0.2774	L	0.53249	1.67	0.80722	D	1	B	0.14438	0.01	B	0.20184	0.028	T	0.63033	-0.6727	10	0.02654	T	1	-4.1293	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1647	Q8TD26	CHD6_HUMAN	E	1647	ENSP00000362330:Q1647E	ENSP00000362330:Q1647E	Q	-	1	0	CHD6	39483750	0.941000	0.31946	0.061000	0.19648	0.943000	0.58893	4.970000	0.63742	2.865000	0.98341	0.655000	0.94253	CAA		0.423	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				12	26	0	0	0	0.105934	0	12	26		
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A	rs199672858	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418																																						uc002xni.2		NaN																	0				skin(2)	2						c.(1114-1116)CGC>AGC		semenogelin I preproprotein							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837052C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>A	20.37:g.43837052C>A	ENSP00000361867:p.Arg372Ser					SEMG1_uc002xnj.2_Missense_Mutation_p.R312S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	p.R372S	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	1171	+		Myeloproliferative disorder(115;0.0122)	372			58 AA repeat 2.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.712711	0.00712	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.03951	3.75;3.75	0.951	-1.9	0.07665	.	.	.	.	.	T	0.00754	0.0025	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	9	0.09590	T	0.72	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	S	312;372	ENSP00000244069:R312S;ENSP00000361867:R372S	ENSP00000244069:R312S	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3		NM_003007		4	58	1	0	0.00024832	0.009096	0.00025557	4	58		
BTG3	10950	broad.mit.edu	37	21	18977218	18977218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:18977218C>A	ENST00000348354.6	-	3	527	c.271G>T	c.(271-273)Gag>Tag	p.E91*	BTG3_ENST00000339775.6_Nonsense_Mutation_p.E91*	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	91					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AGAGTGAGCTCCTTTGGCAAG	0.448																																						uc002ykk.2		NaN																	0					0						c.(271-273)GAG>TAG		B-cell translocation gene 3 isoform b							109.0	97.0	101.0					21																	18977218		2203	4300	6503	SO:0001587	stop_gained	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18977218C>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.271G>T	21.37:g.18977218C>A	ENSP00000284879:p.Glu91*					BTG3_uc002ykl.2_Nonsense_Mutation_p.E91*	p.E91*	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	3	531	-			91					D3DSC4|Q53XV1|Q96ET7	Nonsense_Mutation	SNP	ENST00000348354.6	37	c.271G>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	C	40	8.281976	0.98740	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.45	5.45	0.79879	.	0.103418	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.8722	17.5912	0.87997	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000344609:E91X	E	-	1	0	BTG3	17899089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.738000	0.74822	2.941000	0.99782	0.655000	0.94253	GAG		0.448	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1		NM_006806		19	26	1	0	2.39187e-15	0.049695	2.59426e-15	19	26		
GABPA	2551	broad.mit.edu	37	21	27130452	27130452	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:27130452G>T	ENST00000354828.3	+	6	1212	c.685G>T	c.(685-687)Gat>Tat	p.D229Y	GABPA_ENST00000400075.3_Missense_Mutation_p.D229Y	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	229	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAACCAAGAAGATTTTTTTCA	0.398																																						uc002ylx.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(685-687)GAT>TAT		GA binding protein transcription factor, alpha							60.0	61.0	61.0					21																	27130452		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27130452G>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.685G>T	21.37:g.27130452G>T	ENSP00000346886:p.Asp229Tyr					GABPA_uc002yly.3_Missense_Mutation_p.D229Y	p.D229Y	NM_002040	NP_002031	Q06546	GABPA_HUMAN			6	1212	+			229			PNT.		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.685G>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737301	0.89482	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.37411	1.2;1.2	5.29	5.29	0.74685	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.139319	0.64402	D	0.000004	T	0.52240	0.1722	M	0.73319	2.225	0.80722	D	1	P	0.48694	0.914	P	0.50617	0.646	T	0.56432	-0.7980	10	0.87932	D	0	.	18.7267	0.91716	0.0:0.0:1.0:0.0	.	229	Q06546	GABPA_HUMAN	Y	229	ENSP00000346886:D229Y;ENSP00000382948:D229Y	ENSP00000346886:D229Y	D	+	1	0	GABPA	26052323	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.160000	0.94734	2.762000	0.94881	0.467000	0.42956	GAT		0.398	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1		NM_002040		16	42	1	0	8.10497e-08	0.055883	8.49666e-08	16	42		
AGPAT3	56894	broad.mit.edu	37	21	45387862	45387862	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:45387862G>C	ENST00000398063.2	+	3	706	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72Q|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72Q	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	72					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTCCTGCACGGAGTGTACACT	0.612																																					Pancreas(60;623 1650 5574 52796)	uc002zdv.2		NaN																	0					0						c.(214-216)GAG>CAG		1-acylglycerol-3-phosphate O-acyltransferase 3							147.0	105.0	119.0					21																	45387862		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45387862G>C	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.214G>C	21.37:g.45387862G>C	ENSP00000381140:p.Glu72Gln					AGPAT3_uc002zdw.2_Missense_Mutation_p.E72Q|AGPAT3_uc002zdx.2_Missense_Mutation_p.E159Q|AGPAT3_uc002zdy.2_Missense_Mutation_p.E10Q	p.E72Q	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	436	+			72			Cytoplasmic (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.214G>C	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718685	0.30503	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.63	3.73	0.42828	.	0.290535	0.36778	N	0.002408	D	0.89097	0.6618	L	0.33753	1.03	0.47214	D	0.99935	B;B	0.29671	0.254;0.001	B;B	0.32022	0.139;0.014	D	0.85583	0.1241	10	0.40728	T	0.16	-15.0295	13.2677	0.60144	0.0:0.3046:0.6954:0.0	.	92;72	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	Q	72	ENSP00000291572:E72Q;ENSP00000381138:E72Q;ENSP00000332989:E72Q;ENSP00000381140:E72Q;ENSP00000381135:E72Q;ENSP00000413906:E72Q;ENSP00000414440:E72Q;ENSP00000443510:E72Q	ENSP00000291572:E72Q	E	+	1	0	AGPAT3	44212290	1.000000	0.71417	0.863000	0.33907	0.431000	0.31685	4.996000	0.63914	0.915000	0.36847	0.591000	0.81541	GAG		0.612	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1		NM_020132		8	26	0	0	0	0.047766	0	8	26		
KRTAP10-3	386682	broad.mit.edu	37	21	45978005	45978005	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:45978005G>C	ENST00000391620.1	-	1	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	198	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGGCGGCAGAGGAGGGACA	0.692																																						uc002zfj.1		NaN																	0				skin(1)	1						c.(592-594)CTC>CTG		keratin associated protein 10-3							28.0	34.0	32.0					21																	45978005		2197	4294	6491	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978005G>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.594C>G	21.37:g.45978005G>C						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.L198L	NM_198696	NP_941969	P60369	KR103_HUMAN			1	639	-			198			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.594C>G	CCDS42956.1																																																																																				0.692	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1				7	32	0	0	0	0.02938	0	7	32		
MED15	51586	broad.mit.edu	37	22	20909408	20909408	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:20909408G>T	ENST00000263205.7	+	5	493	c.424G>T	c.(424-426)Gct>Tct	p.A142S	MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.A116S|MED15_ENST00000292733.7_Missense_Mutation_p.A142S|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.A116S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	142					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCACAGCATGGCTGTCGTGTC	0.567																																						uc002zsp.2		NaN																	0				skin(1)	1						c.(424-426)GCT>TCT		mediator complex subunit 15 isoform a							27.0	27.0	27.0					22																	20909408		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909408G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.424G>T	22.37:g.20909408G>T	ENSP00000263205:p.Ala142Ser					MED15_uc002zsn.1_Missense_Mutation_p.A61S|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.A142S|MED15_uc010gso.2_Missense_Mutation_p.A142S|MED15_uc002zsr.2_Missense_Mutation_p.A116S|MED15_uc011ahs.1_Missense_Mutation_p.A116S|MED15_uc011aht.1_Missense_Mutation_p.A116S|MED15_uc002zss.2_Missense_Mutation_p.A61S	p.A142S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		5	504	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	142					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.424G>T	CCDS33602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.87|12.87	2.068951|2.068951	0.36470|0.36470	.|.	.|.	ENSG00000099917|ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000457322;ENST00000424287|ENST00000423862	D;T;D;D;T|.	0.84223|.	-1.82;-1.23;-1.82;-1.82;-1.08|.	5.46|5.46	3.18|3.18	0.36537|0.36537	Mediator complex, subunit Med15, metazoa (1);|.	0.495796|.	0.23558|.	N|.	0.046895|.	T|T	0.34542|0.34542	0.0901|0.0901	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.12013|.	0.005;0.004;0.004;0.005|.	B;B;B;B|.	0.11329|.	0.006;0.004;0.004;0.006|.	T|T	0.07501|0.07501	-1.0769|-1.0769	10|5	0.13853|.	T|.	0.58|.	.|.	6.0542|6.0542	0.19802|0.19802	0.1766:0.0:0.6602:0.1632|0.1766:0.0:0.6602:0.1632	.|.	161;116;142;142|.	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5|.	.;.;.;MED15_HUMAN|.	S|V	116;116;142;142;116;116;116;116;103;95|82	ENSP00000292733:A142S;ENSP00000263205:A142S;ENSP00000384344:A116S;ENSP00000443137:A116S;ENSP00000396461:A95S|.	ENSP00000263205:A142S|.	A|G	+|+	1|2	0|0	MED15|MED15	19239408|19239408	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	-0.012000|-0.012000	0.12699|0.12699	1.316000|1.316000	0.45131|0.45131	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889		3	6	1	0	2.56e-06	0.009096	2.65412e-06	3	6		
SLC7A4	6545	broad.mit.edu	37	22	21384120	21384120	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:21384120C>T	ENST00000382932.2	-	3	1570	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	SLC7A4_ENST00000403586.1_Silent_p.S501S|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	501					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGCAGGGTCGAGTTCCCAA	0.582																																						uc002zud.2		NaN																	0				ovary(1)|lung(1)	2						c.(1501-1503)TCG>TCA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						65.0	47.0	53.0					22																	21384120		2203	4300	6503	SO:0001819	synonymous_variant	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384120C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1503G>A	22.37:g.21384120C>T						SLC7A4_uc002zue.2_Silent_p.S501S	p.S501S	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1571	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	501					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	c.1503G>A	CCDS33608.1																																																																																				0.582	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1		NM_004173		6	25	0	0	0	0.021553	0	6	25		
HPS4	89781	broad.mit.edu	37	22	26860275	26860275	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:26860275C>G	ENST00000398145.2	-	11	1937	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.E436Q|HPS4_ENST00000398141.1_Missense_Mutation_p.E454Q|HPS4_ENST00000336873.5_Missense_Mutation_p.E441Q	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	441					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCGAGCTGCTCTTGGGCTCCA	0.632									Hermansky-Pudlak syndrome																													uc003acl.2		NaN																	0					0						c.(1321-1323)GAG>CAG		light ear protein isoform a							92.0	88.0	90.0					22																	26860275		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860275C>G		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1321G>C	22.37:g.26860275C>G	ENSP00000381213:p.Glu441Gln					HPS4_uc003aci.2_Missense_Mutation_p.E436Q|HPS4_uc003acj.2_Missense_Mutation_p.E305Q|HPS4_uc003ack.2_Missense_Mutation_p.E232Q|HPS4_uc003acn.2_Missense_Mutation_p.E287Q|HPS4_uc010gvd.1_Missense_Mutation_p.E459Q|HPS4_uc003ach.2_Missense_Mutation_p.E176Q	p.E441Q	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	1980	-			441					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1321G>C	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570380	0.28003	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.61980	1.14;1.11;1.14;1.14;0.06	4.83	2.71	0.32032	.	0.779712	0.12325	N	0.478897	T	0.56863	0.2014	M	0.69823	2.125	0.09310	N	1	B;B;B;B;B;B	0.32101	0.356;0.356;0.037;0.356;0.091;0.037	B;B;B;B;B;B	0.29598	0.104;0.104;0.049;0.104;0.048;0.049	T	0.52193	-0.8608	10	0.54805	T	0.06	-0.0579	6.4623	0.21964	0.0:0.7183:0.1839:0.0978	.	441;441;441;441;454;436	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	Q	441;454;436;441;459;459	ENSP00000381213:E441Q;ENSP00000381210:E454Q;ENSP00000384185:E436Q;ENSP00000338457:E441Q;ENSP00000415081:E459Q	ENSP00000325840:E459Q	E	-	1	0	HPS4	25190275	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.439000	0.21575	0.621000	0.30232	0.655000	0.94253	GAG		0.632	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1		NM_022081		27	79	0	0	0	0.144211	0	27	79		
MORC2	22880	broad.mit.edu	37	22	31332626	31332626	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:31332626C>G	ENST00000397641.3	-	17	2017	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.E475Q			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	537						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCAGAAGCCTCACACCTGTAG	0.493																																						uc003aje.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1423-1425)GAG>CAG		MORC family CW-type zinc finger 2							112.0	102.0	106.0					22																	31332626		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31332626C>G	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1609G>C	22.37:g.31332626C>G	ENSP00000380763:p.Glu537Gln						p.E475Q	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			18	2787	-			537			CW-type.		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1423G>C		.	.	.	.	.	.	.	.	.	.	C	20.7	4.032932	0.75504	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.13196	2.63;2.61	6.06	4.86	0.63082	Zinc finger, CW-type (2);	0.325843	0.38436	N	0.001698	T	0.17831	0.0428	L	0.34521	1.04	0.80722	D	1	P	0.36354	0.549	P	0.46049	0.502	T	0.02326	-1.1176	10	0.30854	T	0.27	.	15.9559	0.79886	0.0:0.9244:0.0:0.0756	.	537	Q9Y6X9	MORC2_HUMAN	Q	537;475	ENSP00000380763:E537Q;ENSP00000215862:E475Q	ENSP00000215862:E475Q	E	-	1	0	MORC2	29662626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.041000	0.57339	2.871000	0.98454	0.655000	0.94253	GAG		0.493	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2		NM_014941		40	44	0	0	0	0.139131	0	40	44		
CELSR1	9620	broad.mit.edu	37	22	46787591	46787591	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:46787591G>A	ENST00000262738.3	-	15	6086	c.6087C>T	c.(6085-6087)atC>atT	p.I2029I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2029	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCGGCCGATGACGCCGG	0.682																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6085-6087)ATC>ATT		cadherin EGF LAG seven-pass G-type receptor 1							29.0	30.0	30.0					22																	46787591		2201	4299	6500	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46787591G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6087C>T	22.37:g.46787591G>A						CELSR1_uc011arc.1_Silent_p.I350I	p.I2029I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	15	6087	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2029			Extracellular (Potential).|Laminin EGF-like.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.6087C>T	CCDS14076.1																																																																																				0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		4	21	0	0	0	0.021553	0	4	21		
TUBGCP6	85378	broad.mit.edu	37	22	50659293	50659293	+	Silent	SNP	G	G	A	rs540310913	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:50659293G>A	ENST00000248846.5	-	16	3599	c.3495C>T	c.(3493-3495)tcC>tcT	p.S1165S	TUBGCP6_ENST00000439308.2_Silent_p.S1165S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1165	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.S1165S(2)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCGGACACGTGTC	0.637													N|||	2	0.000399361	0.0008	0.0	5008	,	,		22548	0.0		0.0	False		,,,				2504	0.001					uc003bkb.1		NaN																	2	Substitution - coding silent(2)		large_intestine(1)|endometrium(1)	ovary(2)|central_nervous_system(2)	4						c.(3493-3495)TCC>TCT		tubulin, gamma complex associated protein 6							90.0	83.0	85.0					22																	50659293		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659293G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3495C>T	22.37:g.50659293G>A						TUBGCP6_uc003bka.1_Silent_p.S252S|TUBGCP6_uc010har.1_Silent_p.S1157S|TUBGCP6_uc010has.1_RNA	p.S1165S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4007	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1165			9 X 27 AA tandem repeats.|6.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3495C>T	CCDS14087.1																																																																																				0.637	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461		4	103	0	0	0	0.021553	0	4	103		
TGFBR2	7048	broad.mit.edu	37	3	30713543	30713543	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:30713543G>A	ENST00000295754.5	+	4	1250	c.868G>A	c.(868-870)Gag>Aag	p.E290K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E315K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTGGAAGACAGAGAAGGACAT	0.483																																						uc003ceo.2		NaN																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(868-870)GAG>AAG		transforming growth factor, beta receptor II							132.0	124.0	127.0					3																	30713543		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713543G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.868G>A	3.37:g.30713543G>A	ENSP00000295754:p.Glu290Lys					TGFBR2_uc003cen.2_Missense_Mutation_p.E315K	p.E290K	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1250	+			290			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.868G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085769	0.94100	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.98207	-4.79;-4.79	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99509	1.0955	10	0.87932	D	0	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	290;315	P37173;D2JYI1	TGFR2_HUMAN;.	K	290;315	ENSP00000295754:E290K;ENSP00000351905:E315K	ENSP00000295754:E290K	E	+	1	0	TGFBR2	30688547	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	9.864000	0.99589	2.317000	0.78254	0.655000	0.94253	GAG		0.483	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2				61	15	0	0	0	0.139131	0	61	15		
ULK4	54986	broad.mit.edu	37	3	41746766	41746766	+	Missense_Mutation	SNP	G	G	A	rs565139607	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:41746766G>A	ENST00000301831.4	-	26	3128	c.2666C>T	c.(2665-2667)aCg>aTg	p.T889M		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	889					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATCTATGTTCGTTTCTCCTGA	0.294													G|||	2	0.000399361	0.0	0.0	5008	,	,		13290	0.0		0.001	False		,,,				2504	0.001					uc003ckv.3		NaN																	0					0						c.(2665-2667)ACG>ATG		unc-51-like kinase 4							83.0	76.0	78.0					3																	41746766		1802	4068	5870	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746766G>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2666C>T	3.37:g.41746766G>A	ENSP00000301831:p.Thr889Met						p.T889M	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	2867	-			889					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2666C>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472450	0.63737	.	.	ENSG00000168038	ENST00000301831	T	0.65178	-0.14	5.01	4.11	0.48088	Armadillo-type fold (1);	0.278443	0.26463	U	0.024225	T	0.71550	0.3353	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.60609	0.877	T	0.75379	-0.3338	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.1391:0.8609:0.0	.	889	Q96C45	ULK4_HUMAN	M	889	ENSP00000301831:T889M	ENSP00000301831:T889M	T	-	2	0	ULK4	41721770	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	4.869000	0.63028	1.191000	0.43056	0.591000	0.81541	ACG		0.294	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		40	10	0	0	0	0.139131	0	40	10		
LRRC2	79442	broad.mit.edu	37	3	46592976	46592976	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:46592976C>G	ENST00000395905.3	-	2	498	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.E36Q|AC104304.2_ENST00000583198.1_RNA	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	36										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCGCTCTTCTCAAGCCTTTCC	0.468																																						uc010hji.2		NaN																	0				ovary(1)	1						c.(106-108)GAG>CAG		leucine rich repeat containing 2							139.0	139.0	139.0					3																	46592976		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592976C>G	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.106G>C	3.37:g.46592976C>G	ENSP00000379241:p.Glu36Gln					LRRC2_uc003cpu.3_Missense_Mutation_p.E36Q	p.E36Q	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	470	-		Ovarian(412;0.0563)	36					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.106G>C	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820975	0.16678	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.19806	2.12;2.12	4.73	3.85	0.44370	.	0.092623	0.44483	N	0.000453	T	0.15912	0.0383	L	0.32530	0.975	0.39368	D	0.966033	B	0.22276	0.067	B	0.21151	0.033	T	0.07214	-1.0784	10	0.23302	T	0.38	.	12.5165	0.56036	0.0:0.8071:0.1928:0.0	.	36	Q9BYS8	LRRC2_HUMAN	Q	36	ENSP00000379241:E36Q;ENSP00000296144:E36Q	ENSP00000296144:E36Q	E	-	1	0	LRRC2	46567980	0.832000	0.29368	0.232000	0.24009	0.415000	0.31203	1.660000	0.37397	1.343000	0.45638	0.655000	0.94253	GAG		0.468	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2				54	23	0	0	0	0.139131	0	54	23		
ARIH2	10425	broad.mit.edu	37	3	49012253	49012253	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:49012253C>T	ENST00000356401.4	+	10	1231	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.P298S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	298					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCTCAGTGTCCCAAGTGCAA	0.498																																						uc003cvb.2		NaN																	0		p.P298P(1)		ovary(1)	1						c.(892-894)CCC>TCC		ariadne homolog 2							185.0	161.0	169.0					3																	49012253		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49012253C>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.892C>T	3.37:g.49012253C>T	ENSP00000348769:p.Pro298Ser					ARIH2_uc003cvc.2_Missense_Mutation_p.P298S|ARIH2_uc003cvf.2_Missense_Mutation_p.P216S|ARIH2_uc010hkl.2_Missense_Mutation_p.P298S	p.P298S	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	10	1204	+			298			RING-type 2.		Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.892C>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099665	0.94197	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	D;D	0.85861	-2.04;-2.04	5.91	5.91	0.95273	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.999;0.995;1.0	D	0.94411	0.7632	10	0.72032	D	0.01	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	305;298;298	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	S	298;298;297;122	ENSP00000348769:P298S;ENSP00000403222:P298S	ENSP00000348769:P298S	P	+	1	0	ARIH2	48987257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.267000	0.78462	2.813000	0.96785	0.655000	0.94253	CCC		0.498	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1		NM_006321		42	8	0	0	0	0.139131	0	42	8		
CBLB	868	broad.mit.edu	37	3	105377858	105377858	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:105377858C>T	ENST00000264122.4	-	19	3226	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	CBLB_ENST00000407712.1_Missense_Mutation_p.E184K|CBLB_ENST00000394027.3_Missense_Mutation_p.E947K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	969	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AAGGCAAATTCTCGGAGGATG	0.468			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2905-2907)GAA>AAA		Cas-Br-M (murine) ecotropic retroviral							111.0	106.0	108.0					3																	105377858		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377858C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2905G>A	3.37:g.105377858C>T	ENSP00000264122:p.Glu969Lys					CBLB_uc003dwa.2_Missense_Mutation_p.E184K|CBLB_uc011bhi.1_Missense_Mutation_p.E947K	p.E969K	NM_170662	NP_733762	Q13191	CBLB_HUMAN			19	3227	-			969			UBA.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2905G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267928	0.95429	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.75	5.75	0.90469	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	L	0.34521	1.04	0.80722	D	1	P;D;D	0.69078	0.849;0.997;0.997	B;D;D	0.73380	0.321;0.98;0.98	T	0.67237	-0.5721	10	0.87932	D	0	-15.8565	19.9449	0.97179	0.0:1.0:0.0:0.0	.	947;969;947	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	K	308;969;184;947	ENSP00000377598:E308K;ENSP00000264122:E969K;ENSP00000384170:E184K;ENSP00000377595:E947K	ENSP00000264122:E969K	E	-	1	0	CBLB	106860548	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.754000	0.74909	2.696000	0.92011	0.655000	0.94253	GAA		0.468	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		30	45	0	0	0	0.125774	0	30	45		
VEPH1	79674	broad.mit.edu	37	3	157082155	157082155	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:157082155G>C	ENST00000362010.2	-	8	1581	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.S425C|VEPH1_ENST00000392833.2_Missense_Mutation_p.S425C|VEPH1_ENST00000543418.1_Missense_Mutation_p.S425C	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	425						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTCTGATAGAGCCAGGGGT	0.348																																						uc003fbj.1		NaN																	0				breast(3)|ovary(1)|lung(1)	5						c.(1273-1275)TCT>TGT		ventricular zone expressed PH domain homolog 1							121.0	120.0	120.0					3																	157082155		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157082155G>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1274C>G	3.37:g.157082155G>C	ENSP00000354919:p.Ser425Cys					VEPH1_uc003fbk.1_Missense_Mutation_p.S425C|VEPH1_uc010hvu.1_Missense_Mutation_p.S425C	p.S425C	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		8	1591	-			425					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1274C>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279898	0.40294	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.10477	2.87;2.9;2.87;2.9	5.71	5.71	0.89125	.	0.176358	0.51477	D	0.000081	T	0.21631	0.0521	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.945	T	0.00252	-1.1876	10	0.87932	D	0	-32.5631	13.1016	0.59222	0.073:0.0:0.927:0.0	.	425;425	Q14D04-2;Q14D04	.;MELT_HUMAN	C	425	ENSP00000376578:S425C;ENSP00000354919:S425C;ENSP00000446258:S425C;ENSP00000376577:S425C	ENSP00000354919:S425C	S	-	2	0	VEPH1	158564849	1.000000	0.71417	0.403000	0.26384	0.050000	0.14768	5.315000	0.65810	2.691000	0.91804	0.650000	0.86243	TCT		0.348	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3		NM_024621		10	42	0	0	0	0.080935	0	10	42		
PIK3CA	5290	broad.mit.edu	37	3	178922324	178922324	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:178922324G>A	ENST00000263967.3	+	6	1250	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E365K(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCATGGAGGAGAACCCTTATG	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		6	Substitution - Missense(6)	p.E365K(2)	endometrium(6)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1093-1095)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							222.0	182.0	194.0					3																	178922324		1844	4096	5940	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922324G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1093G>A	3.37:g.178922324G>A	ENSP00000263967:p.Glu365Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E365K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1250	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		365			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1093G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611196	0.87258	.	.	ENSG00000121879	ENST00000263967	T	0.68624	-0.34	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	L	0.29908	0.895	0.80722	D	1	P	0.36086	0.536	B	0.38921	0.285	T	0.53457	-0.8436	10	0.12430	T	0.62	-11.3698	19.431	0.94765	0.0:0.0:1.0:0.0	.	365	P42336	PK3CA_HUMAN	K	365	ENSP00000263967:E365K	ENSP00000263967:E365K	E	+	1	0	PIK3CA	180405018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.600000	0.87896	0.655000	0.94253	GAA		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				58	62	0	0	0	0.139131	0	58	62		
HTT	3064	broad.mit.edu	37	4	3142363	3142363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:3142363C>G	ENST00000355072.5	+	22	3070	c.2925C>G	c.(2923-2925)ttC>ttG	p.F975L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	975					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATCTCATTTCTCCGTCAGCA	0.473																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(2929-2931)TTC>TTG		huntingtin							98.0	99.0	99.0					4																	3142363		2127	4246	6373	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3142363C>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2925C>G	4.37:g.3142363C>G	ENSP00000347184:p.Phe975Leu						p.F977L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	23	3076	+		all_epithelial(65;0.18)	975					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2931C>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599030	0.28534	.	.	ENSG00000197386	ENST00000355072	T	0.04603	3.59	4.97	3.17	0.36434	Armadillo-type fold (1);	0.101635	0.64402	N	0.000002	T	0.02649	0.0080	N	0.14661	0.345	0.43073	D	0.994712	B	0.11235	0.004	B	0.06405	0.002	T	0.48163	-0.9059	10	0.15499	T	0.54	.	6.6909	0.23171	0.0:0.6238:0.0:0.3762	.	975	P42858	HD_HUMAN	L	975	ENSP00000347184:F975L	ENSP00000347184:F975L	F	+	3	2	HTT	3112161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.223000	0.32527	1.187000	0.43000	0.655000	0.94253	TTC		0.473	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		3	62	0	0	0	0.115264	0	3	62		
WFS1	7466	broad.mit.edu	37	4	6302887	6302887	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:6302887G>A	ENST00000226760.1	+	8	1535	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	WFS1_ENST00000503569.1_Silent_p.T455T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	455					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGCCCTACACGCGCAGGGCCC	0.637																																						uc003giy.2		NaN																	0				central_nervous_system(2)	2						c.(1363-1365)ACG>ACA		wolframin							83.0	78.0	80.0					4																	6302887		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302887G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1365G>A	4.37:g.6302887G>A						WFS1_uc003gix.2_Silent_p.T455T|WFS1_uc003giz.2_Silent_p.T273T	p.T455T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1531	+			455					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.1365G>A	CCDS3386.1																																																																																				0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1				22	55	0	0	0	0.116897	0	22	55		
ZNF518B	85460	broad.mit.edu	37	4	10446215	10446215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:10446215G>A	ENST00000326756.3	-	3	2176	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	580					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTGCCTTGTGTTCCTCTGTC	0.393																																						uc003gmn.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1738-1740)CAC>TAC		zinc finger protein 518B							101.0	95.0	97.0					4																	10446215		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446215G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1738C>T	4.37:g.10446215G>A	ENSP00000317614:p.His580Tyr						p.H580Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	2225	-			580					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1738C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462640	0.12402	.	.	ENSG00000178163	ENST00000326756	T	0.01516	4.81	3.79	2.05	0.26809	.	1.967620	0.03105	N	0.161662	T	0.01800	0.0057	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45948	-0.9226	10	0.42905	T	0.14	-0.0584	3.3912	0.07290	0.2231:0.0:0.5588:0.218	.	580	Q9C0D4	Z518B_HUMAN	Y	580	ENSP00000317614:H580Y	ENSP00000317614:H580Y	H	-	1	0	ZNF518B	10055313	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.036000	0.13819	0.306000	0.22856	0.655000	0.94253	CAC		0.393	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		NM_053042		30	47	0	0	0	0.064281	0	30	47		
N4BP2	55728	broad.mit.edu	37	4	40104376	40104376	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:40104376G>A	ENST00000261435.6	+	4	1327	c.911G>A	c.(910-912)gGt>gAt	p.G304D		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	304					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GATTTACCAGGTACAGGTGGG	0.473																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(910-912)GGT>GAT		Nedd4 binding protein 2							72.0	74.0	73.0					4																	40104376		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104376G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.911G>A	4.37:g.40104376G>A	ENSP00000261435:p.Gly304Asp					N4BP2_uc010ifq.2_Missense_Mutation_p.G224D|N4BP2_uc010ifr.2_Missense_Mutation_p.G224D	p.G304D	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	1249	+			304					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.911G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293497	0.23564	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.20738	2.05	5.4	-1.34	0.09143	.	1.022450	0.07764	N	0.950631	T	0.13072	0.0317	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.16722	0.016;0.007	T	0.36480	-0.9746	10	0.59425	D	0.04	-0.0944	1.8127	0.03094	0.3267:0.2302:0.3356:0.1075	.	304;304	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	D	304;224	ENSP00000261435:G304D	ENSP00000261435:G304D	G	+	2	0	N4BP2	39780771	0.016000	0.18221	0.000000	0.03702	0.003000	0.03518	0.488000	0.22371	-0.475000	0.06852	-0.142000	0.14014	GGT		0.473	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		22	51	0	0	0	0.108266	0	22	51		
CNOT6L	246175	broad.mit.edu	37	4	78650191	78650191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78650191C>T	ENST00000504123.1	-	10	1199	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A357T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	357	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.A357T(1)|p.A386T(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGGGCATTTGCCACTATAAGC	0.388																																						uc011ccd.1		NaN																	2	Substitution - Missense(2)	p.V357I(1)	lung(2)	large_intestine(1)	1						c.(1069-1071)GCA>ACA		CCR4-NOT transcription complex, subunit 6-like							101.0	96.0	97.0					4																	78650191		1847	4092	5939	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650191C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1069G>A	4.37:g.78650191C>T	ENSP00000424896:p.Ala357Thr					CNOT6L_uc003hks.2_Missense_Mutation_p.A357T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A200T	p.A357T	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1200	-			357					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1069G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643454|4.643454	0.87859|0.87859	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983|ENST00000515506	D;D;D;D|.	0.95482|.	-3.72;-3.72;-3.72;-3.72|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Endonuclease/exonuclease/phosphatase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;P|.	0.38250|.	0.365;0.624|.	B;B|.	0.42692|.	0.09;0.395|.	T|T	0.66244|0.66244	-0.5972|-0.5972	10|5	0.48119|.	T|.	0.1|.	-3.5365|-3.5365	19.8926|19.8926	0.96935|0.96935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	330;357|.	Q96LI5-2;Q96LI5|.	.;CNO6L_HUMAN|.	T|D	357;357;364;132|385	ENSP00000424896:A357T;ENSP00000264903:A357T;ENSP00000425571:A364T;ENSP00000426320:A132T|.	ENSP00000264903:A357T|.	A|G	-|-	1|2	0|0	CNOT6L|CNOT6L	78869215|78869215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.388	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1				23	61	0	0	0	0.050027	0	23	61		
CNOT6L	246175	broad.mit.edu	37	4	78650194	78650194	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78650194C>G	ENST00000504123.1	-	10	1196	c.1066G>C	c.(1066-1068)Gtg>Ctg	p.V356L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V356L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	356	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCATTTGCCACTATAAGCAGC	0.388																																						uc011ccd.1		NaN																	0				large_intestine(1)	1						c.(1066-1068)GTG>CTG		CCR4-NOT transcription complex, subunit 6-like							100.0	95.0	97.0					4																	78650194		1846	4093	5939	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650194C>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1066G>C	4.37:g.78650194C>G	ENSP00000424896:p.Val356Leu					CNOT6L_uc003hks.2_Missense_Mutation_p.V356L|CNOT6L_uc003hkt.1_Missense_Mutation_p.V199L	p.V356L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1197	-			356					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1066G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.355168|5.355168	0.95854|0.95854	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.95788	.|-3.81;-3.81;-3.81;-3.81	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96938|0.96938	0.9000|0.9000	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P	.|0.54047	.|0.964;0.933	.|P;P	.|0.54499	.|0.754;0.718	D|D	0.97148|0.97148	0.9829|0.9829	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.8926|19.8926	0.96935|0.96935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|329;356	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	T|L	384|356;356;363;131	.|ENSP00000424896:V356L;ENSP00000264903:V356L;ENSP00000425571:V363L;ENSP00000426320:V131L	.|ENSP00000264903:V356L	S|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78869218|78869218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.388	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1				22	60	0	0	0	0.045705	0	22	60		
MRPL1	65008	broad.mit.edu	37	4	78815330	78815330	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78815330C>G	ENST00000315567.8	+	6	925	c.596C>G	c.(595-597)gCt>gGt	p.A199G	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	199					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TTTTACGTAGCTGTTCCAGAA	0.308																																						uc003hku.2		NaN																	0					0						c.(595-597)GCT>GGT		mitochondrial ribosomal protein L1 precursor							99.0	114.0	109.0					4																	78815330		2203	4299	6502	SO:0001583	missense	65008						RNA binding	g.chr4:78815330C>G	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.596C>G	4.37:g.78815330C>G	ENSP00000315017:p.Ala199Gly					MRPL1_uc010iji.1_Missense_Mutation_p.A122G	p.A199G	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			6	794	+			199					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.596C>G	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.749564|3.749564	0.69533|0.69533	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000502384	T|.	0.61040|.	0.14|.	5.49|5.49	4.6|4.6	0.57074|0.57074	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);|.	0.105491|.	0.64402|.	D|.	0.000005|.	T|T	0.75027|0.75027	0.3794|0.3794	M|M	0.81341|0.81341	2.54|2.54	0.52099|0.52099	D|D	0.999944|0.999944	P;D|.	0.58620|.	0.954;0.983|.	P;P|.	0.56612|.	0.639;0.802|.	T|T	0.75966|0.75966	-0.3131|-0.3131	10|5	0.72032|.	D|.	0.01|.	-14.4952|-14.4952	12.8472|12.8472	0.57837|0.57837	0.0:0.8356:0.1644:0.0|0.0:0.8356:0.1644:0.0	.|.	177;199|.	A0PJ79;Q9BYD6|.	.;RM01_HUMAN|.	G|R	199;177|152	ENSP00000315017:A199G|.	ENSP00000315017:A199G|.	A|S	+|+	2|3	0|2	MRPL1|MRPL1	79034354|79034354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.635000|0.635000	0.38103|0.38103	3.625000|3.625000	0.54238|0.54238	2.744000|2.744000	0.94065|0.94065	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3		NM_020236		37	75	0	0	0	0.139131	0	37	75		
AIMP1	9255	broad.mit.edu	37	4	107268795	107268795	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:107268795G>A	ENST00000442366.1	+	7	937	c.885G>A	c.(883-885)gtG>gtA	p.V295V	AIMP1_ENST00000358008.3_Silent_p.V295V|AIMP1_ENST00000394701.4_Silent_p.V319V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	295					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CCTTTGAGGTGAAAGGGAAGG	0.413																																						uc011cfg.1		NaN																	0					0						c.(883-885)GTG>GTA		small inducible cytokine subfamily E, member 1							78.0	70.0	73.0					4																	107268795		2203	4300	6503	SO:0001819	synonymous_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107268795G>A	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.885G>A	4.37:g.107268795G>A						AIMP1_uc003hyg.2_Silent_p.V295V|AIMP1_uc003hyh.2_Silent_p.V319V	p.V295V	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN			7	937	+			295					B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Silent	SNP	ENST00000442366.1	37	c.885G>A	CCDS3674.1																																																																																				0.413	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1		NM_004757		4	44	0	0	0	0.021553	0	4	44		
KIAA1109	84162	broad.mit.edu	37	4	123161005	123161005	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:123161005G>A	ENST00000264501.4	+	29	4541	c.4168G>A	c.(4168-4170)Gat>Aat	p.D1390N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1390N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1390N|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1390					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTCAATGGCTGATAGTGAAGC	0.418																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4168-4170)GAT>AAT		fragile site-associated protein							73.0	68.0	70.0					4																	123161005		1911	4127	6038	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161005G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4168G>A	4.37:g.123161005G>A	ENSP00000264501:p.Asp1390Asn					KIAA1109_uc003iei.1_Missense_Mutation_p.D1143N|KIAA1109_uc010ins.1_Missense_Mutation_p.D733N|KIAA1109_uc003iek.2_Missense_Mutation_p.D9N	p.D1390N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			27	4213	+			1390					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4168G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912687	0.92178	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.34072	1.99;1.99;1.38	6.05	6.05	0.98169	.	0.000000	0.44902	U	0.000410	T	0.49270	0.1547	N	0.24115	0.695	0.58432	D	0.999993	D;D	0.69078	0.996;0.997	D;D	0.79784	0.993;0.989	T	0.37753	-0.9692	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1389;1390	Q2LD37-2;Q2LD37	.;K1109_HUMAN	N	1390	ENSP00000264501:D1390N;ENSP00000373390:D1390N;ENSP00000389925:D1390N	ENSP00000264501:D1390N	D	+	1	0	KIAA1109	123380455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.878000	0.98634	0.650000	0.86243	GAT		0.418	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		19	33	0	0	0	0.069288	0	19	33		
NPY2R	4887	broad.mit.edu	37	4	156135697	156135697	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:156135697C>T	ENST00000329476.3	+	2	1095	c.606C>T	c.(604-606)gcC>gcT	p.A202A	NPY2R_ENST00000506608.1_Silent_p.A202A	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	202				A -> P (in Ref. 4; AAB07760). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AGATTGTGGCCTGTACTGAAA	0.507																																						uc003ioq.2		NaN																	0				lung(2)|skin(1)	3						c.(604-606)GCC>GCT		neuropeptide Y receptor Y2							116.0	118.0	117.0					4																	156135697		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135697C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.606C>T	4.37:g.156135697C>T						NPY2R_uc003ior.2_Silent_p.A202A	p.A202A	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1101	+	all_hematologic(180;0.24)	Renal(120;0.0854)	202	A -> P (in Ref. 4; AAB07760).		Extracellular (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.606C>T	CCDS3791.1																																																																																				0.507	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1		NM_000910		8	129	0	0	0	0.058154	0	8	129		
ZFP42	132625	broad.mit.edu	37	4	188924685	188924685	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:188924685G>A	ENST00000326866.4	+	4	1132	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ZFP42_ENST00000509524.1_Missense_Mutation_p.E242K	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	242					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCATACTGGAGAGAAGCCGTT	0.512																																						uc003izg.1		NaN																	0				ovary(1)|skin(1)	2						c.(724-726)GAG>AAG		zinc finger protein 42							93.0	98.0	96.0					4																	188924685		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924685G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.724G>A	4.37:g.188924685G>A	ENSP00000317686:p.Glu242Lys					ZFP42_uc003izh.1_Missense_Mutation_p.E242K|ZFP42_uc003izi.1_Missense_Mutation_p.E242K	p.E242K	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	969	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	242					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.724G>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925817	0.73213	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.91351	-2.83;-2.83	4.39	4.39	0.52855	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.059174	0.64402	D	0.000004	D	0.93579	0.7950	L	0.55017	1.72	0.43734	D	0.996221	D	0.89917	1.0	D	0.77004	0.989	D	0.93867	0.7159	10	0.87932	D	0	.	15.272	0.73708	0.0:0.0:1.0:0.0	.	242	Q96MM3	ZFP42_HUMAN	K	242	ENSP00000317686:E242K;ENSP00000424662:E242K	ENSP00000317686:E242K	E	+	1	0	ZFP42	189161679	1.000000	0.71417	0.977000	0.42913	0.012000	0.07955	9.390000	0.97246	2.729000	0.93468	0.655000	0.94253	GAG		0.512	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1		NM_174900		15	27	0	0	0	0.0333	0	15	27		
TRIM23	373	broad.mit.edu	37	5	64892995	64892995	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:64892995G>C	ENST00000231524.9	-	8	1563	c.1192C>G	c.(1192-1194)Cac>Gac	p.H398D	TRIM23_ENST00000274327.7_Missense_Mutation_p.H398D|TRIM23_ENST00000381018.3_Missense_Mutation_p.H398D	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	398	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GGTCCAATGTGAACTCGATTA	0.318																																						uc003jty.2		NaN																	0				ovary(3)|lung(1)	4						c.(1192-1194)CAC>GAC		ADP-ribosylation factor domain protein 1 isoform							89.0	86.0	87.0					5																	64892995		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64892995G>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1192C>G	5.37:g.64892995G>C	ENSP00000231524:p.His398Asp					TRIM23_uc003jtw.2_Missense_Mutation_p.H398D|TRIM23_uc003jtx.2_Missense_Mutation_p.H398D	p.H398D	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	8	1278	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	398			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1192C>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617365	0.87359	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.73469	-0.68;-0.68;-0.75	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85457	0.5701	M	0.63843	1.955	0.80722	D	1	D;D;D	0.67145	0.968;0.996;0.969	D;D;P	0.70487	0.969;0.925;0.701	D	0.85493	0.1186	10	0.87932	D	0	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	398;398;398	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	D	398	ENSP00000231524:H398D;ENSP00000370406:H398D;ENSP00000274327:H398D	ENSP00000231524:H398D	H	-	1	0	TRIM23	64928751	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	CAC		0.318	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2		NM_001656		49	57	0	0	0	0.139131	0	49	57		
MSH3	4437	broad.mit.edu	37	5	79950579	79950579	+	Silent	SNP	C	C	T	rs564921007	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:79950579C>T	ENST00000265081.6	+	1	113	c.33C>T	c.(31-33)ctC>ctT	p.L11L	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	11					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGGGCGGCCTCGCTGCCTCCA	0.697								Mismatch excision repair (MMR)					.|||	2	0.000399361	0.0	0.0	5008	,	,		6922	0.0		0.0	False		,,,				2504	0.002				Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(31-33)CTC>CTT	MMR	mutS homolog 3							23.0	22.0	22.0					5																	79950579		2196	4293	6489	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950579C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.33C>T	5.37:g.79950579C>T						DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.A59A|DHFR_uc003kgy.1_5'UTR	p.L11L	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	286	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	11					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.33C>T	CCDS34195.1																																																																																				0.697	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		9	25	0	0	0	0.105934	0	9	25		
SNCAIP	9627	broad.mit.edu	37	5	121767723	121767723	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:121767723G>A	ENST00000261368.8	+	6	1504	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.L461L|SNCAIP_ENST00000503116.2_Silent_p.L461L|SNCAIP_ENST00000261367.7_Silent_p.L461L|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.L48L|SNCAIP_ENST00000379536.2_Silent_p.L354L|SNCAIP_ENST00000542191.1_5'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	414					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTGCAGAACTGAGTTGTTCTA	0.403																																						uc003ksw.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1240-1242)CTG>CTA		synuclein alpha interacting protein							128.0	114.0	119.0					5																	121767723		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121767723G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1242G>A	5.37:g.121767723G>A						SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Silent_p.L414L|SNCAIP_uc003ksx.1_Silent_p.L461L|SNCAIP_uc003ksy.1_Silent_p.L48L|SNCAIP_uc003ksz.1_Silent_p.L48L|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Silent_p.L48L|SNCAIP_uc003kta.1_Silent_p.L46L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L108L|SNCAIP_uc010jcx.1_Silent_p.L354L	p.L414L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	6	1448	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	414					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1242G>A	CCDS4131.1																																																																																				0.403	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				30	17	0	0	0	0.086207	0	30	17		
PCDHB8	56128	broad.mit.edu	37	5	140558309	140558309	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140558309G>A	ENST00000239444.2	+	1	939	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> G (in dbSNP:rs17096954).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATTGAAGTTGTCGA	0.507																																						uc011dai.1		NaN																	0				skin(4)	4						c.(694-696)GAA>AAA		protocadherin beta 8 precursor							170.0	212.0	198.0					5																	140558309		2202	4268	6470	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558309G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.694G>A	5.37:g.140558309G>A	ENSP00000239444:p.Glu232Lys					PCDHB16_uc003liv.2_5'Flank	p.E232K	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	880	+			232			Cadherin 2.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.694G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.017453	0.00418	.	.	ENSG00000120322	ENST00000239444	T	0.50813	0.73	4.25	1.0	0.19881	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.23727	0.0574	N	0.16266	0.395	0.09310	N	1	B	0.23128	0.08	B	0.27608	0.081	T	0.25710	-1.0124	9	0.09590	T	0.72	.	1.6975	0.02865	0.264:0.1995:0.4075:0.129	.	232	Q9UN66	PCDB8_HUMAN	K	232	ENSP00000239444:E232K	ENSP00000239444:E232K	E	+	1	0	PCDHB8	140538493	0.000000	0.05858	0.072000	0.20136	0.036000	0.12997	-0.431000	0.06965	0.770000	0.33336	0.585000	0.79938	GAA		0.507	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		35	29	0	0	0	0.124865	0	35	29		
PCDHB11	56125	broad.mit.edu	37	5	140581588	140581588	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140581588G>T	ENST00000354757.3	+	1	2241	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q382H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	747					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCCAGAGCTACCAGT	0.582																																						uc003liy.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2239-2241)CAG>CAT		protocadherin beta 11 precursor							113.0	126.0	121.0					5																	140581588		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581588G>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2241G>T	5.37:g.140581588G>T	ENSP00000346802:p.Gln747His					PCDHB11_uc011daj.1_Missense_Mutation_p.Q382H	p.Q747H	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2241	+			747			Cytoplasmic (Potential).		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2241G>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267230	0.23136	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.56611	0.45;0.67	2.77	0.688	0.18027	.	.	.	.	.	T	0.45013	0.1321	L	0.58428	1.81	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.36601	-0.9741	9	0.39692	T	0.17	.	7.2401	0.26092	0.0:0.3415:0.479:0.1795	.	747	Q9Y5F2	PCDBB_HUMAN	H	382;747	ENSP00000440344:Q382H;ENSP00000346802:Q747H	ENSP00000346802:Q747H	Q	+	3	2	PCDHB11	140561772	0.000000	0.05858	0.694000	0.30210	0.718000	0.41266	-2.863000	0.00725	0.017000	0.15025	0.549000	0.68633	CAG		0.582	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931		69	93	1	0	2.18481e-45	0.139131	2.43524e-45	69	93		
PCDHGA10	56106	broad.mit.edu	37	5	140793016	140793016	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140793016G>T	ENST00000398610.2	+	1	274	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGGGCAGGATAGA	0.602																																						uc003lkl.1		NaN																	0					0						c.(274-276)GGC>TGC		protocadherin gamma subfamily A, 10 isoform 1							60.0	76.0	71.0					5																	140793016		2144	4281	6425	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793016G>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.274G>T	5.37:g.140793016G>T	ENSP00000381611:p.Gly92Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G92C	p.G92C	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	274	+			92			Cadherin 1.|Extracellular (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.274G>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181867	0.78677	.	.	ENSG00000253846	ENST00000398610	T	0.28255	1.62	5.89	5.89	0.94794	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67515	0.2901	H	0.94847	3.59	0.40676	D	0.98226	D;D	0.67145	0.996;0.994	D;D	0.64687	0.919;0.928	T	0.76677	-0.2871	9	0.66056	D	0.02	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	C	92	ENSP00000381611:G92C	ENSP00000381611:G92C	G	+	1	0	PCDHGA10	140773200	0.991000	0.36638	1.000000	0.80357	0.836000	0.47400	4.921000	0.63397	2.788000	0.95919	0.557000	0.71058	GGC		0.602	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		62	58	1	0	3.19467e-53	0.139131	3.57498e-53	62	58		
RBM27	54439	broad.mit.edu	37	5	145609388	145609388	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:145609388G>C	ENST00000265271.5	+	5	670	c.504G>C	c.(502-504)aaG>aaC	p.K168N	RBM27_ENST00000506502.1_Missense_Mutation_p.K168N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	168	Arg-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAggagtaagagtcggagta	0.493																																						uc003lnz.3		NaN																	0				central_nervous_system(2)|pancreas(1)	3						c.(502-504)AAG>AAC		RNA binding motif protein 27							144.0	139.0	141.0					5																	145609388		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145609388G>C	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.504G>C	5.37:g.145609388G>C	ENSP00000265271:p.Lys168Asn					RBM27_uc003lny.2_Missense_Mutation_p.K168N	p.K168N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	670	+			168			Arg-rich.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.504G>C	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894146	0.72639	.	.	ENSG00000091009	ENST00000265271	T	0.46063	0.88	5.54	4.56	0.56223	.	0.068661	0.64402	D	0.000014	T	0.48537	0.1505	L	0.44542	1.39	0.41833	D	0.990081	B;D	0.69078	0.048;0.997	B;D	0.63488	0.021;0.915	T	0.31336	-0.9947	10	0.27785	T	0.31	-6.6764	9.0141	0.36159	0.2358:0.0:0.7642:0.0	.	168;168	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	168	ENSP00000265271:K168N	ENSP00000265271:K168N	K	+	3	2	RBM27	145589581	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	2.589000	0.87451	0.655000	0.94253	AAG		0.493	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128		38	57	0	0	0	0.124865	0	38	57		
SPINK5	11005	broad.mit.edu	37	5	147475436	147475436	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:147475436G>A	ENST00000256084.7	+	10	892	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E284K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E284K|SPINK5_ENST00000476608.1_3'UTR	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	284	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAAAGCTGAAGAAAAAAC	0.373																																						uc003lox.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(850-852)GAA>AAA		serine peptidase inhibitor, Kazal type 5 isoform							65.0	65.0	65.0					5																	147475436		1817	4072	5889	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147475436G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.850G>A	5.37:g.147475436G>A	ENSP00000256084:p.Glu284Lys					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.E256K|SPINK5_uc010jgr.2_Missense_Mutation_p.E265K|SPINK5_uc003low.2_Missense_Mutation_p.E284K|SPINK5_uc003loy.2_Missense_Mutation_p.E284K	p.E284K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	923	+			284			Kazal-like 4.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.850G>A	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319679	0.10845	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.44482	0.96;0.92;1.0;0.96	3.67	2.72	0.32119	.	0.693792	0.12472	N	0.465892	T	0.26448	0.0646	L	0.33485	1.01	0.19300	N	0.999971	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.15052	0.012;0.005;0.012;0.007	T	0.27606	-1.0069	10	0.08179	T	0.78	-5.6789	6.8834	0.24187	0.1384:0.0:0.8616:0.0	.	265;284;284;284	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	K	284;284;265;284	ENSP00000381472:E284K;ENSP00000352936:E284K;ENSP00000421519:E265K;ENSP00000256084:E284K	ENSP00000256084:E284K	E	+	1	0	SPINK5	147455629	0.074000	0.21230	0.526000	0.27913	0.018000	0.09664	-0.301000	0.08232	1.034000	0.39945	0.644000	0.83932	GAA		0.373	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698		35	30	0	0	0	0.124865	0	35	30		
DOCK2	1794	broad.mit.edu	37	5	169461533	169461533	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:169461533C>T	ENST00000256935.8	+	35	3678	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R692C|DOCK2_ENST00000540750.1_Missense_Mutation_p.R261C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1200	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1200C(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAAGACAACCGCATGAGCTG	0.592																																						uc003maf.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(5)|pancreas(2)	7						c.(3598-3600)CGC>TGC		dedicator of cytokinesis 2							94.0	90.0	91.0					5																	169461533		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169461533C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3598C>T	5.37:g.169461533C>T	ENSP00000256935:p.Arg1200Cys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R692C	p.R1200C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	3678	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1200			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3598C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857622	0.91433	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.67698	-0.28;-0.28;0.87	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.87617	2.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;P	0.60609	0.837;0.877	D	0.84833	0.0803	10	0.87932	D	0	.	14.1698	0.65503	0.1499:0.8501:0.0:0.0	.	692;1200	E7ERW7;Q92608	.;DOCK2_HUMAN	C	1200;692;261	ENSP00000256935:R1200C;ENSP00000429283:R692C;ENSP00000438827:R261C	ENSP00000256935:R1200C	R	+	1	0	DOCK2	169394111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.523000	0.60545	2.656000	0.90262	0.655000	0.94253	CGC		0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		19	46	0	0	0	0.083992	0	19	46		
KCNIP1	30820	broad.mit.edu	37	5	170145787	170145787	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:170145787G>A	ENST00000411494.1	+	3	120	c.120G>A	c.(118-120)atG>atA	p.M40I	KCNIP1_ENST00000328939.4_Missense_Mutation_p.M29I|KCNIP1_ENST00000520740.1_Start_Codon_SNP_p.M1I|KCNIP1_ENST00000434108.1_Missense_Mutation_p.M29I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M29I|KCNIP1_ENST00000377360.4_Missense_Mutation_p.M38I			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	40	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGAGATGACCATGGTTT	0.512																																						uc003mas.2		NaN																	0				skin(2)	2						c.(118-120)ATG>ATA		Kv channel interacting protein 1 isoform 1							57.0	53.0	54.0					5																	170145787		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170145787G>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.120G>A	5.37:g.170145787G>A	ENSP00000395323:p.Met40Ile					KCNIP1_uc003map.2_Missense_Mutation_p.M38I|KCNIP1_uc003mat.2_Missense_Mutation_p.M29I|KCNIP1_uc010jjp.2_Missense_Mutation_p.M1I|KCNIP1_uc010jjq.2_Missense_Mutation_p.M29I	p.M40I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	649	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	40			EF-hand 1; degenerate.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.120G>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121700	0.77436	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.69806	-0.28;-0.3;-0.3;-0.31;-0.43;-0.31	5.59	5.59	0.84812	.	0.142207	0.85682	D	0.000000	T	0.60143	0.2246	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.17268	0.021;0.003;0.002;0.001	B;B;B;B	0.16722	0.016;0.005;0.005;0.002	T	0.53989	-0.8360	9	.	.	.	.	17.0782	0.86591	0.0:0.0:1.0:0.0	.	29;29;40;38	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	I	38;29;29;1;29;40	ENSP00000366577:M38I;ENSP00000329686:M29I;ENSP00000375071:M29I;ENSP00000431102:M1I;ENSP00000414886:M29I;ENSP00000395323:M40I	.	M	+	3	0	KCNIP1	170078365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.227000	0.72282	2.619000	0.88677	0.655000	0.94253	ATG		0.512	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1				13	23	0	0	0	0.0333	0	13	23		
RGS14	10636	broad.mit.edu	37	5	176794807	176794807	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:176794807C>T	ENST00000408923.3	+	7	908	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	240					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCCTCTCCGCAAGTCCT	0.652																																					NSCLC(47;353 1896 28036)	uc003mgf.2		NaN																	0				lung(1)	1						c.(718-720)CTC>CTT		regulator of G-protein signalling 14							19.0	27.0	24.0					5																	176794807		1961	4131	6092	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176794807C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.720C>T	5.37:g.176794807C>T						RGS14_uc003mgg.1_Silent_p.L87L|RGS14_uc003mgh.2_Silent_p.L87L|RGS14_uc003mgi.2_5'UTR	p.L240L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	902	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	240					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.720C>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	9.555	1.117029	0.20795	.	.	ENSG00000169220	ENST00000511890	.	.	.	3.75	0.616	0.17613	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.44862	D	0.997874	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	-6.6833	8.2142	0.31501	0.0:0.4535:0.4557:0.0907	.	.	.	.	F	110	.	.	S	+	2	0	RGS14	176727413	0.326000	0.24669	0.995000	0.50966	0.787000	0.44495	-0.664000	0.05292	-0.002000	0.14469	0.561000	0.74099	TCC		0.652	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1		NM_006480		11	8	0	0	0	0.11911	0	11	8		
DBN1	1627	broad.mit.edu	37	5	176895189	176895189	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:176895189C>G	ENST00000309007.5	-	3	394	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	DBN1_ENST00000292385.5_Missense_Mutation_p.E61Q|DBN1_ENST00000393565.1_Missense_Mutation_p.E59Q	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	59	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGGTTCTCAAAGTGTCCC	0.552																																						uc003mgy.2		NaN																	0				breast(3)|ovary(1)|lung(1)|skin(1)	6						c.(175-177)GAG>CAG		drebrin 1 isoform a							173.0	178.0	177.0					5																	176895189		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176895189C>G		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.175G>C	5.37:g.176895189C>G	ENSP00000308532:p.Glu59Gln					DBN1_uc003mgx.2_Missense_Mutation_p.E61Q|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_5'UTR	p.E59Q	NM_004395	NP_004386	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	347	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	59			ADF-H.		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.175G>C	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648057	0.87958	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391;ENST00000514833	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.23	5.23	0.72850	Actin-binding, cofilin/tropomyosin type (3);	0.055895	0.64402	D	0.000001	T	0.56804	0.2010	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.66602	0.934;0.945	T	0.54682	-0.8257	10	0.48119	T	0.1	-19.6691	17.7392	0.88403	0.0:1.0:0.0:0.0	.	59;61	Q16643;Q16643-2	DREB_HUMAN;.	Q	59;61;59;58;59	ENSP00000308532:E59Q;ENSP00000292385:E61Q;ENSP00000377195:E59Q;ENSP00000422854:E58Q;ENSP00000421465:E59Q	ENSP00000292385:E61Q	E	-	1	0	DBN1	176827795	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.426000	0.52778	2.719000	0.93026	0.650000	0.86243	GAG		0.552	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2		NM_080881		107	118	0	0	0	0.139131	0	107	118		
DEK	7913	broad.mit.edu	37	6	18264194	18264194	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:18264194C>T	ENST00000397239.3	-	2	472	c.25G>A	c.(25-27)Gag>Aag	p.E9K	DEK_ENST00000244776.7_Missense_Mutation_p.E9K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	9					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCTCCCCCTCCGCAGCAGGG	0.682			T	NUP214	AML																																	uc003ncr.1		NaN		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				kidney(1)	1						c.(25-27)GAG>AAG		DEK oncogene isoform 1							27.0	30.0	29.0					6																	18264194		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264194C>T	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.25G>A	6.37:g.18264194C>T	ENSP00000380414:p.Glu9Lys					DEK_uc011djf.1_Missense_Mutation_p.E9K|DEK_uc011djg.1_RNA	p.E9K	NM_003472	NP_003463	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	218	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	9					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.25G>A	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412176	0.62511	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.52057	0.92;0.68;0.9	4.76	3.87	0.44632	.	0.142496	0.31301	N	0.007890	T	0.22742	0.0549	N	0.08118	0	0.29105	N	0.881251	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.15037	-1.0451	10	0.14656	T	0.56	-8.3168	10.0582	0.42259	0.2016:0.7984:0.0:0.0	.	9;9	B4DN37;P35659	.;DEK_HUMAN	K	9;9;14	ENSP00000380414:E9K;ENSP00000244776:E9K;ENSP00000423553:E14K	ENSP00000244776:E9K	E	-	1	0	DEK	18372173	0.984000	0.35163	0.992000	0.48379	0.694000	0.40290	3.442000	0.52900	0.925000	0.37094	0.491000	0.48974	GAG		0.682	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4				18	29	0	0	0	0.076483	0	18	29		
PRSS16	10279	broad.mit.edu	37	6	27219016	27219016	+	Missense_Mutation	SNP	G	G	A	rs200343894		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:27219016G>A	ENST00000230582.3	+	7	705	c.690G>A	c.(688-690)atG>atA	p.M230I	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	230					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAAGCCTAATGAGCACCGCGA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		11327	0.0		0.001	False		,,,				2504	0.0				NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(688-690)ATG>ATA		protease, serine, 16 precursor		G	ILE/MET	0,4406		0,0,2203	41.0	45.0	43.0		690	1.4	0.0	6		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS16	NM_005865.3	10	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	230/515	27219016	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219016G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.690G>A	6.37:g.27219016G>A	ENSP00000230582:p.Met230Ile					PRSS16_uc011dkt.1_Intron|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc003njd.2_5'Flank	p.M230I	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			7	702	+			230					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.690G>A	CCDS4623.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.13	1.846347	0.32606	0.0	1.16E-4	ENSG00000112812	ENST00000230582	T	0.21734	1.99	4.38	1.39	0.22231	.	1.607000	0.03557	N	0.226485	T	0.05181	0.0138	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33599	-0.9862	10	0.41790	T	0.15	0.1702	7.2446	0.26115	0.0958:0.3215:0.5827:0.0	.	230	Q9NQE7	TSSP_HUMAN	I	230	ENSP00000230582:M230I	ENSP00000230582:M230I	M	+	3	0	PRSS16	27326995	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.062000	0.11674	0.135000	0.18707	-0.302000	0.09304	ATG		0.672	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2				29	28	0	0	0	0.104719	0	29	28		
HIST1H2BL	8340	broad.mit.edu	37	6	27775577	27775577	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:27775577C>T	ENST00000377401.2	-	1	132	c.108G>A	c.(106-108)gaG>gaA	p.E36E	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	36					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGGAGTAGCTCTCCTTGCGGC	0.587																																						uc003njl.2		NaN																	0					0						c.(106-108)GAG>GAA		histone cluster 1, H2bl							198.0	186.0	190.0					6																	27775577		2203	4298	6501	SO:0001819	synonymous_variant	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775577C>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.108G>A	6.37:g.27775577C>T						HIST1H3H_uc003njm.2_5'Flank	p.E36E	NM_003519	NP_003510	Q99880	H2B1L_HUMAN			1	133	-			36					B2R5A3|Q52LW9	Silent	SNP	ENST00000377401.2	37	c.108G>A	CCDS4625.1																																																																																				0.587	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1		NM_003519		77	191	0	0	0	0.139131	0	77	191		
OR14J1	442191	broad.mit.edu	37	6	29274779	29274779	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:29274779C>T	ENST00000377160.2	+	1	377	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTTCATAGCTCTGGCCTCATC	0.453																																						uc011dln.1		NaN																	0				ovary(1)	1						c.(313-315)CTG>TTG		olfactory receptor, family 5, subfamily U member							159.0	176.0	170.0					6																	29274779		1510	2709	4219	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274779C>T		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.313C>T	6.37:g.29274779C>T							p.L105L	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	313	+			105			Helical; Name=3; (Potential).		A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.313C>T	CCDS34362.1																																																																																				0.453	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2				47	43	0	0	0	0.139131	0	47	43		
MOG	4340	broad.mit.edu	37	6	29640988	29640988	+	IGR	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:29640988G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Silent_p.T280T|ZFP57_ENST00000376881.3_Silent_p.T280T|ZFP57_ENST00000488757.1_Silent_p.T300T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ATTCAGCCTGGGTGCCTGGAA	0.557																																						uc011dlw.1		NaN																	0				ovary(3)|skin(2)	5						c.(898-900)ACC>ACT		zinc finger protein 57 homolog							144.0	150.0	148.0					6																	29640988		1229	2537	3766	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640988G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640988G>A						ZFP57_uc003nnl.3_Silent_p.T280T	p.T300T	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1051	-			216					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.900C>T	CCDS34370.1																																																																																				0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3		NM_002433		103	23	0	0	0	0.139131	0	103	23		
MUC21	394263	broad.mit.edu	37	6	30954960	30954960	+	Silent	SNP	C	C	T	rs41288683		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:30954960C>T	ENST00000376296.3	+	2	1249	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	336	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTGAGTCCAGCACGACCTCCA	0.627																																						uc003nsh.2		NaN																	0				ovary(1)|skin(1)	2						c.(1006-1008)AGC>AGT		mucin 21 precursor							135.0	137.0	136.0					6																	30954960		2202	4296	6498	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954960C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1008C>T	6.37:g.30954960C>T						MUC21_uc003nsi.1_RNA	p.S336S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1259	+			336			Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1008C>T	CCDS34388.1																																																																																				0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909		6	169	0	0	0	0.069288	0	6	169		
BACH2	60468	broad.mit.edu	37	6	90647890	90647890	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:90647890C>T	ENST00000257749.4	-	8	2723	c.2016G>A	c.(2014-2016)caG>caA	p.Q672Q	BACH2_ENST00000537989.1_Silent_p.Q672Q|BACH2_ENST00000343122.3_Silent_p.Q672Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	672	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATTCTAAATTCTGAATACAGT	0.458																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2014-2016)CAG>CAA		BTB and CNC homology 1, basic leucine zipper							98.0	101.0	100.0					6																	90647890		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90647890C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2016G>A	6.37:g.90647890C>T						BACH2_uc003pnw.2_Silent_p.Q672Q	p.Q672Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2825	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	672					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.2016G>A	CCDS5026.1																																																																																				0.458	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		58	19	0	0	0	0.139131	0	58	19		
ZBTB24	9841	broad.mit.edu	37	6	109803198	109803198	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:109803198T>C	ENST00000230122.3	-	2	199	c.32A>G	c.(31-33)cAg>cGg	p.Q11R		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	11	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TACAACAAGCTGCCCAGAAGG	0.443																																						uc003ptl.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(31-33)CAG>CGG		zinc finger and BTB domain containing 24 isoform							47.0	50.0	49.0					6																	109803198		2190	4294	6484	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109803198T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.32A>G	6.37:g.109803198T>C	ENSP00000230122:p.Gln11Arg					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q11R|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.Q11R	p.Q11R	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	200	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	11			BTB.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.32A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	7.940	0.742552	0.15642	.	.	ENSG00000112365	ENST00000230122	T	0.21932	1.98	5.69	2.03	0.26663	BTB/POZ fold (1);	1.046580	0.07433	N	0.895985	T	0.07143	0.0181	L	0.55481	1.735	0.09310	N	1	B;B	0.22909	0.077;0.049	B;B	0.17722	0.019;0.01	T	0.38585	-0.9654	9	.	.	.	-1.0406	5.9479	0.19229	0.0:0.1461:0.1406:0.7132	.	11;11	O43167-2;O43167	.;ZBT24_HUMAN	R	11	ENSP00000230122:Q11R	.	Q	-	2	0	ZBTB24	109909891	0.989000	0.36119	0.088000	0.20740	0.757000	0.42996	0.895000	0.28363	0.421000	0.25980	-0.323000	0.08544	CAG		0.443	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1		NM_014797		29	13	0	0	0	0.080422	0	29	13		
FYN	2534	broad.mit.edu	37	6	111983077	111983077	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:111983077G>A	ENST00000354650.3	-	14	2085	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	FYN_ENST00000229470.5_Silent_p.I441I|FYN_ENST00000368678.4_Silent_p.I490I|FYN_ENST00000368667.2_Silent_p.I493I|FYN_ENST00000229471.4_Silent_p.I438I|FYN_ENST00000356013.2_Silent_p.I438I|FYN_ENST00000368682.3_Silent_p.I490I|FYN_ENST00000538466.1_Silent_p.I490I	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CATGCAGAGAGATGGGGCAGT	0.567																																						uc003pvj.2		NaN																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(1477-1479)ATC>ATT		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						137.0	138.0	138.0					6																	111983077		2203	4300	6503	SO:0001819	synonymous_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983077G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1479C>T	6.37:g.111983077G>A						FYN_uc003pvi.2_Silent_p.I438I|FYN_uc003pvk.2_Silent_p.I493I|FYN_uc003pvh.2_Silent_p.I490I	p.I493I	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	13	1819	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	493			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	ENST00000354650.3	37	c.1479C>T	CCDS5094.1																																																																																				0.567	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1				82	47	0	0	0	0.139131	0	82	47		
SYNE1	23345	broad.mit.edu	37	6	152737694	152737694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:152737694C>G	ENST00000367255.5	-	41	6479	c.5878G>C	c.(5878-5880)Gag>Cag	p.E1960Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E1997Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1960Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1967Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1967Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1960					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATCCTCTCTACCTCTCCA	0.502										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5878-5880)GAG>CAG		spectrin repeat containing, nuclear envelope 1							165.0	166.0	165.0					6																	152737694		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737694C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5878G>C	6.37:g.152737694C>G	ENSP00000356224:p.Glu1960Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1967Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1960Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1943Q	p.E1960Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6480	-		Ovarian(120;0.0955)	1960			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5878G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969317	0.74246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.17	6.17	0.99709	.	0.089760	0.47852	D	0.000206	T	0.33847	0.0877	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.47409	0.895;0.852;0.852;0.82	B;B;B;P	0.46718	0.38;0.287;0.287;0.525	T	0.01889	-1.1253	10	0.20519	T	0.43	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1943;1960;1960;1967	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	1960;1967;1960;1967;1997	ENSP00000356224:E1960Q;ENSP00000396024:E1967Q;ENSP00000265368:E1960Q;ENSP00000390975:E1967Q;ENSP00000341887:E1997Q	ENSP00000265368:E1960Q	E	-	1	0	SYNE1	152779387	1.000000	0.71417	0.945000	0.38365	0.837000	0.47467	6.006000	0.70724	2.941000	0.99782	0.655000	0.94253	GAG		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		6	95	0	0	0	0.02938	0	6	95		
SCAF8	22828	broad.mit.edu	37	6	155154524	155154524	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:155154524A>G	ENST00000367178.3	+	20	4387	c.3811A>G	c.(3811-3813)Aca>Gca	p.T1271A	SCAF8_ENST00000417268.1_Missense_Mutation_p.T1271A|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.T1337A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1271					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						AACTGAGGGGACATAATCATC	0.373																																						uc003qqa.2		NaN																	0					0						c.(3811-3813)ACA>GCA		RNA-binding motif protein 16							66.0	67.0	67.0					6																	155154524		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155154524A>G	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.3811A>G	6.37:g.155154524A>G	ENSP00000356146:p.Thr1271Ala					TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.T1337A|RBM16_uc011efk.1_Missense_Mutation_p.T1316A|RBM16_uc003qpz.2_Missense_Mutation_p.T1271A	p.T1271A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	4043	+		Ovarian(120;0.196)	1271					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.3811A>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343987	0.61073	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.60672	0.26;0.26;0.17	5.3	5.3	0.74995	.	0.000000	0.64402	U	0.000002	T	0.57577	0.2063	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.993	D;D;D	0.75020	0.985;0.985;0.978	T	0.65627	-0.6122	10	0.87932	D	0	.	15.2276	0.73361	1.0:0.0:0.0:0.0	.	1316;1337;1271	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	A	1271;1271;1337;232	ENSP00000356146:T1271A;ENSP00000413098:T1271A;ENSP00000356154:T1337A	ENSP00000356146:T1271A	T	+	1	0	TIAM2;SCAF8	155196216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.112000	0.77086	1.994000	0.58287	0.533000	0.62120	ACA		0.373	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		35	22	0	0	0	0.09836	0	35	22		
TULP4	56995	broad.mit.edu	37	6	158922867	158922867	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:158922867G>A	ENST00000367097.3	+	13	3529	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	724					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TAGATGTCCTGACCAACCAGA	0.567																																						uc003qrf.2		NaN																	0				ovary(1)	1						c.(2170-2172)CTG>CTA		tubby like protein 4 isoform 1							169.0	147.0	154.0					6																	158922867		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158922867G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2172G>A	6.37:g.158922867G>A						TULP4_uc003qrg.2_Intron	p.L724L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3529	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	724					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2172G>A	CCDS34561.1																																																																																				0.567	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		83	34	0	0	0	0.139131	0	83	34		
IGF2R	3482	broad.mit.edu	37	6	160500774	160500774	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:160500774G>C	ENST00000356956.1	+	38	5789	c.5641G>C	c.(5641-5643)Gaa>Caa	p.E1881Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1881					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCACCAGGATGAAGCGGTCGT	0.458																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(5641-5643)GAA>CAA		insulin-like growth factor 2 receptor precursor							128.0	121.0	123.0					6																	160500774		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160500774G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5641G>C	6.37:g.160500774G>C	ENSP00000349437:p.Glu1881Gln						p.E1881Q	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5789	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1881			13.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5641G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464163	0.63513	.	.	ENSG00000197081	ENST00000356956	T	0.02301	4.35	6.07	6.07	0.98685	Mannose-6-phosphate receptor, binding (1);	0.382403	0.29722	N	0.011369	T	0.08133	0.0203	M	0.70275	2.135	0.58432	D	0.999996	D	0.76494	0.999	D	0.73380	0.98	T	0.32375	-0.9909	10	0.33141	T	0.24	-12.5122	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1881	P11717	MPRI_HUMAN	Q	1881	ENSP00000349437:E1881Q	ENSP00000349437:E1881Q	E	+	1	0	IGF2R	160420764	1.000000	0.71417	0.943000	0.38184	0.126000	0.20510	5.450000	0.66626	2.884000	0.98904	0.655000	0.94253	GAA		0.458	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		29	18	0	0	0	0.080422	0	29	18		
MICALL2	79778	broad.mit.edu	37	7	1481960	1481960	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:1481960G>C	ENST00000297508.7	-	7	1754	c.1579C>G	c.(1579-1581)Cag>Gag	p.Q527E	MICALL2_ENST00000405088.4_Missense_Mutation_p.Q315E	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	527	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.Q527E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGATGCCTGAGAGGTACTG	0.667																																						uc003skj.3		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1579-1581)CAG>GAG		MICAL-like 2 isoform 1							101.0	100.0	101.0					7																	1481960		2203	4299	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1481960G>C	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1579C>G	7.37:g.1481960G>C	ENSP00000297508:p.Gln527Glu					MICALL2_uc003ski.3_Missense_Mutation_p.Q14E	p.Q527E	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	7	1726	-		Ovarian(82;0.0253)	527					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1579C>G	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373368	0.01214	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.67523	2.47;-0.27	3.61	-0.885	0.10593	.	2.664860	0.01847	U	0.035675	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.118	B;B	0.19666	0.017;0.026	T	0.33803	-0.9854	10	0.02654	T	1	.	3.1969	0.06636	0.2246:0.0:0.3963:0.3791	.	527;315	Q8IY33;D3YTD2	MILK2_HUMAN;.	E	315;527	ENSP00000385928:Q315E;ENSP00000297508:Q527E	ENSP00000297508:Q527E	Q	-	1	0	MICALL2	1448486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.538000	0.02204	-0.510000	0.06523	0.561000	0.74099	CAG		0.667	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924		50	92	0	0	0	0.139131	0	50	92		
IL6	3569	broad.mit.edu	37	7	22768323	22768323	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:22768323G>C	ENST00000404625.1	+	4	681	c.222G>C	c.(220-222)aaG>aaC	p.K74N	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000407492.1_5'UTR|IL6_ENST00000258743.5_Missense_Mutation_p.K74N|IL6_ENST00000420258.2_Missense_Mutation_p.K128N|IL6_ENST00000406575.1_Missense_Mutation_p.K74N|IL6_ENST00000401630.3_Missense_Mutation_p.K51N|IL6_ENST00000401651.1_5'UTR			P05231	IL6_HUMAN	interleukin 6	74					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CATGTAACAAGAGTAACATGT	0.428																																					Esophageal Squamous(47;342 1214 13936 33513)	uc011jyn.1		NaN																	0					0						c.(220-222)AAG>AAC		interleukin 6 precursor	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						114.0	101.0	106.0					7																	22768323		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22768323G>C	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.222G>C	7.37:g.22768323G>C	ENSP00000385675:p.Lys74Asn					uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.K74N|IL6_uc011jyp.1_5'UTR|IL6_uc003svj.3_Missense_Mutation_p.K74N|IL6_uc011jyq.1_Missense_Mutation_p.K128N	p.K74N	NM_000600	NP_000591	P05231	IL6_HUMAN			4	681	+			74					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.222G>C	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254559	0.22965	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.81	-11.6	0.00059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.201140	0.05435	N	0.546573	T	0.07638	0.0192	L	0.31526	0.94	0.09310	N	1	B;B;B	0.32409	0.37;0.076;0.179	B;B;B	0.33960	0.173;0.04;0.022	T	0.07731	-1.0757	10	0.08179	T	0.78	0.006	4.8485	0.13524	0.0843:0.4446:0.1167:0.3544	.	128;74;74	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	N	74;74;74;128;51;74	ENSP00000385675:K74N;ENSP00000405150:K74N;ENSP00000258743:K74N;ENSP00000405994:K128N;ENSP00000384928:K51N;ENSP00000385227:K74N	ENSP00000258743:K74N	K	+	3	2	IL6	22734848	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.418000	0.02462	-2.441000	0.00550	-0.165000	0.13383	AAG		0.428	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2		NM_000600		5	59	0	0	0	0.014758	0	5	59		
NUPL2	11097	broad.mit.edu	37	7	23239972	23239972	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:23239972G>A	ENST00000258742.5	+	7	1139	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	294	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGAAGCCTGAAGTCACATC	0.502																																						uc003svu.2		NaN																	0				skin(2)|ovary(1)	3						c.(880-882)GAA>AAA		nucleoporin like 2							52.0	47.0	49.0					7																	23239972		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23239972G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.880G>A	7.37:g.23239972G>A	ENSP00000258742:p.Glu294Lys					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.E171K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.E171K|NUPL2_uc011jyx.1_Missense_Mutation_p.E66K	p.E294K	NM_007342	NP_031368	O15504	NUPL2_HUMAN			7	1139	+			294			Ser-rich.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.880G>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	8.178	0.793275	0.16327	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.30182	1.56;1.54	5.87	1.74	0.24563	.	0.438202	0.26750	N	0.022681	T	0.17959	0.0431	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31024	-0.9958	10	0.08599	T	0.76	-2.9066	3.789	0.08712	0.1348:0.1092:0.5312:0.2247	.	294	O15504	NUPL2_HUMAN	K	294;319	ENSP00000258742:E294K;ENSP00000401475:E319K	ENSP00000258742:E294K	E	+	1	0	NUPL2	23206497	0.000000	0.05858	0.124000	0.21820	0.602000	0.36980	-0.302000	0.08221	0.036000	0.15547	0.655000	0.94253	GAA		0.502	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2		NM_007342		9	10	0	0	0	0.047766	0	9	10		
ASB4	51666	broad.mit.edu	37	7	95165794	95165794	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:95165794G>A	ENST00000325885.5	+	4	1095	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	342					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAGTTGTAGTCAATGCCTA	0.408																																						uc011kij.1		NaN																	0				central_nervous_system(1)	1						c.(1024-1026)GTC>ATC		ankyrin repeat and SOCS box-containing protein 4							160.0	122.0	135.0					7																	95165794		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95165794G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1024G>A	7.37:g.95165794G>A	ENSP00000321388:p.Val342Ile						p.V342I	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	1024	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		342					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1024G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623988	0.46840	.	.	ENSG00000005981	ENST00000325885	T	0.41065	1.01	5.05	5.05	0.67936	.	0.136777	0.49305	D	0.000147	T	0.27384	0.0672	N	0.24115	0.695	0.80722	D	1	B	0.28998	0.23	B	0.27715	0.082	T	0.08452	-1.0721	10	0.02654	T	1	-18.7186	17.0353	0.86473	0.0:0.0:1.0:0.0	.	342	Q9Y574	ASB4_HUMAN	I	342	ENSP00000321388:V342I	ENSP00000321388:V342I	V	+	1	0	ASB4	95003730	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.298000	0.65710	2.543000	0.85770	0.650000	0.86243	GTC		0.408	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2		NM_016116		13	43	0	0	0	0.146539	0	13	43		
SRPK2	6733	broad.mit.edu	37	7	104758350	104758350	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:104758350C>G	ENST00000393651.3	-	16	2122	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	SRPK2_ENST00000493638.1_5'Flank|SRPK2_ENST00000357311.3_Missense_Mutation_p.E668Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E668Q	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGAACCATTTCTAACATCGGG	0.458																																						uc003vct.2		NaN																	0				central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2002-2004)GAA>CAA		serine/arginine-rich protein-specific kinase 2							84.0	81.0	82.0					7																	104758350		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104758350C>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.2035G>C	7.37:g.104758350C>G	ENSP00000377262:p.Glu679Gln					SRPK2_uc003vcu.2_Missense_Mutation_p.E668Q|SRPK2_uc003vcv.2_Missense_Mutation_p.E679Q|uc003vcr.1_5'Flank|SRPK2_uc003vcs.1_RNA	p.E668Q	NM_182691	NP_872633	P78362	SRPK2_HUMAN			15	2189	-			668			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.2002G>C	CCDS34724.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.53|17.53|17.53	3.412739|3.412739|3.412739	0.62511|0.62511|0.62511	.|.|.	.|.|.	ENSG00000135250|ENSG00000135250|ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828|ENST00000477925|ENST00000474770	T;T;T|.|.	0.65732|.|.	-0.17;-0.17;-0.17|.|.	5.96|5.96|5.96	5.96|5.96|5.96	0.96718|0.96718|0.96718	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.51483|0.51483|.	0.1677|0.1677|.	N|N|N	0.12637|0.12637|0.12637	0.245|0.245|0.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.71674|.|.	0.997;0.998|.|.	P;D|.|.	0.75484|.|.	0.871;0.986|.|.	T|T|.	0.43909|0.43909|.	-0.9362|-0.9362|.	10|5|.	0.48119|.|.	T|.|.	0.1|.|.	-29.4742|-29.4742|-29.4742	20.4008|20.4008|20.4008	0.98991|0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	679;668|.|.	P78362-2;P78362|.|.	.;SRPK2_HUMAN|.|.	Q|T|Y	679;668;668|274|183	ENSP00000377262:E679Q;ENSP00000349863:E668Q;ENSP00000419791:E668Q|.|.	ENSP00000349863:E668Q|.|.	E|R|X	-|-|-	1|2|3	0|0|2	SRPK2|SRPK2|SRPK2	104545586|104545586|104545586	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AGA|TAG		0.458	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1		NM_182691		14	31	0	0	0	0.146539	0	14	31		
COG5	10466	broad.mit.edu	37	7	106938761	106938761	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:106938761C>T	ENST00000347053.3	-	12	1282	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	COG5_ENST00000393603.2_Missense_Mutation_p.G411E|COG5_ENST00000297135.3_Missense_Mutation_p.G411E	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	411					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGGGTATTCTCCTTCAAATGC	0.323																																						uc003ved.2		NaN																	0				central_nervous_system(2)|skin(2)	4						c.(1231-1233)GGA>GAA		component of oligomeric golgi complex 5 isoform							69.0	66.0	67.0					7																	106938761		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106938761C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1232G>A	7.37:g.106938761C>T	ENSP00000334703:p.Gly411Glu					COG5_uc003vec.2_Missense_Mutation_p.G411E|COG5_uc003vee.2_Missense_Mutation_p.G411E	p.G411E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			12	1757	-			411					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1232G>A	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128824	0.77549	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.73152	-0.72;-0.72;-0.72	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.67548	0.843;0.952	T	0.81195	-0.1043	10	0.26408	T	0.33	-18.7296	19.7917	0.96461	0.0:1.0:0.0:0.0	.	411;411	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	411	ENSP00000334703:G411E;ENSP00000297135:G411E;ENSP00000377228:G411E	ENSP00000297135:G411E	G	-	2	0	COG5	106725997	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.921000	0.75805	2.685000	0.91497	0.650000	0.86243	GGA		0.323	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4				11	26	0	0	0	0.105934	0	11	26		
MKRN1	23608	broad.mit.edu	37	7	140158900	140158900	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:140158900C>T	ENST00000255977.2	-	4	902	c.678G>A	c.(676-678)gaG>gaA	p.E226E	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Silent_p.E162E|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Silent_p.E226E|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	226					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					ACACACAGTTCTCCCCGTATC	0.532																																						uc003vvt.2		NaN																	0				ovary(1)	1						c.(676-678)GAG>GAA		makorin ring finger protein 1 isoform 1							135.0	130.0	132.0					7																	140158900		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158900C>T	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.678G>A	7.37:g.140158900C>T						MKRN1_uc003vvs.2_Silent_p.E162E|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.E226E|MKRN1_uc003vvu.3_Silent_p.E162E	p.E226E	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			4	903	-	Melanoma(164;0.00956)		226			C3H1-type 3.		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.678G>A	CCDS5860.1																																																																																				0.532	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1		NM_013446		43	97	0	0	0	0.139131	0	43	97		
DENND2A	27147	broad.mit.edu	37	7	140273705	140273705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:140273705G>A	ENST00000275884.6	-	5	1766	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	DENND2A_ENST00000496613.1_Missense_Mutation_p.S450F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S450F|DENND2A_ENST00000492720.1_Missense_Mutation_p.S450F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	450					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTGATTTTGGAAGGGGACCC	0.498																																						uc010lnj.2		NaN																	0				ovary(3)|breast(1)	4						c.(1348-1350)TCC>TTC		DENN/MADD domain containing 2A							224.0	222.0	223.0					7																	140273705		1902	4126	6028	SO:0001583	missense	27147							g.chr7:140273705G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1349C>T	7.37:g.140273705G>A	ENSP00000275884:p.Ser450Phe					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S450F|DENND2A_uc003vvw.2_Missense_Mutation_p.S450F|DENND2A_uc003vvx.2_Missense_Mutation_p.S450F	p.S450F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			4	1494	-	Melanoma(164;0.00956)		450					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1349C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674998	0.29783	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000475837	T;T;T;T	0.11712	3.46;3.46;3.46;2.75	4.65	2.79	0.32731	.	0.356716	0.28176	N	0.016318	T	0.07503	0.0189	L	0.40543	1.245	0.36064	D	0.841637	P;B	0.39737	0.685;0.032	B;B	0.39805	0.31;0.04	T	0.32134	-0.9918	10	0.10111	T	0.7	-12.5876	4.8156	0.13365	0.0817:0.1497:0.6137:0.1549	.	450;450	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	F	450;450;450;450;73	ENSP00000275884:S450F;ENSP00000442245:S450F;ENSP00000419654:S450F;ENSP00000419464:S450F	ENSP00000275884:S450F	S	-	2	0	DENND2A	139920174	1.000000	0.71417	0.171000	0.22900	0.701000	0.40568	4.129000	0.57957	0.654000	0.30846	0.313000	0.20887	TCC		0.498	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689		42	109	0	0	0	0.139131	0	42	109		
CASP2	835	broad.mit.edu	37	7	142985599	142985599	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:142985599G>T	ENST00000310447.5	+	1	292	c.51G>T	c.(49-51)ctG>ctT	p.L17L	AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000392925.2_Silent_p.L17L|RN7SL535P_ENST00000479087.2_RNA|AC073342.12_ENST00000446192.1_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	17					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACAAGGAGCTGATGGCCGCTG	0.682																																						uc003wco.2		NaN																	0				lung(2)|ovary(1)	3						c.(49-51)CTG>CTT		caspase 2 isoform 1 preproprotein							35.0	39.0	38.0					7																	142985599		2203	4300	6503	SO:0001819	synonymous_variant	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142985599G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.51G>T	7.37:g.142985599G>T						CASP2_uc003wcp.2_Silent_p.L17L|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_5'Flank	p.L17L	NM_032982	NP_116764	P42575	CASP2_HUMAN			1	198	+	Melanoma(164;0.059)		17					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Silent	SNP	ENST00000310447.5	37	c.51G>T	CCDS5879.1																																																																																				0.682	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3		NM_032982		4	14	1	0	0.00198382	0.02938	0.00201963	4	14		
KMT2C	58508	broad.mit.edu	37	7	151949045	151949045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:151949045C>A	ENST00000262189.6	-	11	1818	c.1600G>T	c.(1600-1602)Gag>Tag	p.E534*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E534*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	534					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAGCTATCTCCACTTCCTCA	0.358																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1600-1602)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 3							99.0	91.0	94.0					7																	151949045		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151949045C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1600G>T	7.37:g.151949045C>A	ENSP00000262189:p.Glu534*						p.E534*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	11	1819	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	534					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.1600G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	38	6.723338	0.97788	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.86	5.86	0.93980	.	0.298074	0.23275	N	0.049963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	15.2783	0.73760	0.0:0.9314:0.0:0.0686	.	.	.	.	X	534	.	ENSP00000262189:E534X	E	-	1	0	MLL3	151579978	1.000000	0.71417	0.775000	0.31657	0.357000	0.29423	2.447000	0.44917	2.778000	0.95560	0.655000	0.94253	GAG		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				9	16	1	0	2.27111e-07	0.09319	2.3633e-07	9	16		
VIPR2	7434	broad.mit.edu	37	7	158827298	158827298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:158827298G>A	ENST00000262178.2	-	9	1038	c.853C>T	c.(853-855)Cga>Tga	p.R285*	VIPR2_ENST00000377633.3_Nonsense_Mutation_p.R269*|VIPR2_ENST00000402066.1_Nonsense_Mutation_p.R426*	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	285					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCGGTATTCGTATGACCCAC	0.478																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(853-855)CGA>TGA		vasoactive intestinal peptide receptor 2							137.0	117.0	124.0					7																	158827298		2203	4300	6503	SO:0001587	stop_gained	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158827298G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.853C>T	7.37:g.158827298G>A	ENSP00000262178:p.Arg285*					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.R285*	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	9	1039	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	285			Helical; Name=5; (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Nonsense_Mutation	SNP	ENST00000262178.2	37	c.853C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	37	6.306967	0.97462	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	.	.	.	4.69	3.79	0.43588	.	0.000000	0.41712	D	0.000829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.107	0.42539	0.0:0.0:0.6365:0.3635	.	.	.	.	X	285;269;426	.	.	R	-	1	2	VIPR2	158520059	1.000000	0.71417	0.579000	0.28588	0.858000	0.48976	4.932000	0.63476	0.945000	0.37605	0.563000	0.77884	CGA		0.478	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1		NM_003382		18	47	0	0	0	0.062417	0	18	47		
UBXN8	7993	broad.mit.edu	37	8	30620854	30620854	+	RNA	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:30620854C>T	ENST00000519246.1	+	0	834							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						TGAAGTCCTACAGCTCACAGG	0.428																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.2		NaN																	0					0						c.(634-636)TAC>TAT		reproduction 8							190.0	172.0	178.0					8																	30620854		1888	4117	6005			7993				single fertilization			g.chr8:30620854C>T	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30620854C>T						UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	p.Y212Y	NM_005671	NP_005662	O00124	UBXN8_HUMAN			9	653	+			212			UBX.		Q7Z6F2	Silent	SNP	ENST00000519246.1	37	c.636C>T																																																																																					0.428	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1		NM_005671		35	28	0	0	0	0.139131	0	35	28		
KCNU1	157855	broad.mit.edu	37	8	36642052	36642052	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:36642052C>T	ENST00000399881.3	+	1	161	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	42					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCATCATCCTGTTGATCTT	0.428																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(124-126)CTG>TTG		potassium channel, subfamily U, member 1							152.0	138.0	142.0					8																	36642052		1943	4146	6089	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642052C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.124C>T	8.37:g.36642052C>T						KCNU1_uc003xjw.2_RNA	p.L42L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	211	+			42			Helical; Name=Segment S0; (Potential).			Silent	SNP	ENST00000399881.3	37	c.124C>T	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		8	19	0	0	0	0.069234	0	8	19		
GGH	8836	broad.mit.edu	37	8	63939794	63939794	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:63939794G>C	ENST00000260118.6	-	4	708	c.306C>G	c.(304-306)ctC>ctG	p.L102L	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	102	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CTGAGCGTCTGAGGTCAACAC	0.383																																						uc003xuw.2		NaN																	0					0						c.(304-306)CTC>CTG		gamma-glutamyl hydrolase precursor	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						121.0	122.0	122.0					8																	63939794		2203	4300	6503	SO:0001819	synonymous_variant	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63939794G>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.306C>G	8.37:g.63939794G>C							p.L102L	NM_003878	NP_003869	Q92820	GGH_HUMAN			4	589	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	102			Gamma-glutamyl hydrolase.			Silent	SNP	ENST00000260118.6	37	c.306C>G	CCDS6177.1																																																																																				0.383	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1				35	111	0	0	0	0.131918	0	35	111		
KCNB2	9312	broad.mit.edu	37	8	73849756	73849756	+	Silent	SNP	T	T	C	rs114148959	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:73849756T>C	ENST00000523207.1	+	3	2754	c.2166T>C	c.(2164-2166)aaT>aaC	p.N722N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	722					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTAAGGAAAATAGAGGCAGTG	0.537													T|||	19	0.00379393	0.0129	0.0029	5008	,	,		17646	0.0		0.0	False		,,,				2504	0.0					uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2164-2166)AAT>AAC		potassium voltage-gated channel, Shab-related		T		50,4356	49.6+/-84.7	1,48,2154	89.0	94.0	92.0		2166	2.3	1.0	8	dbSNP_132	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNB2	NM_004770.2		1,49,6453	CC,CT,TT		0.0116,1.1348,0.3921		722/912	73849756	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849756T>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2166T>C	8.37:g.73849756T>C							p.N722N	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2754	+	Breast(64;0.137)		722			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2166T>C	CCDS6209.1																																																																																				0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		64	54	0	0	0	0.139131	0	64	54		
SNX31	169166	broad.mit.edu	37	8	101629926	101629926	+	Silent	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:101629926A>G	ENST00000311812.2	-	5	504	c.354T>C	c.(352-354)taT>taC	p.Y118Y	SNX31_ENST00000428383.2_Silent_p.Y19Y|KB-1083B1.1_ENST00000521625.1_RNA|KB-1083B1.1_ENST00000521535.1_RNA	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	118					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATATGTCCAGATAAGCTTTCT	0.358																																						uc003yjr.2		NaN																	0					0						c.(352-354)TAT>TAC		sorting nexin 31							140.0	136.0	137.0					8																	101629926		2202	4300	6502	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101629926A>G		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.354T>C	8.37:g.101629926A>G						SNX31_uc011lhb.1_Silent_p.Y19Y	p.Y118Y	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		5	505	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		118					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.354T>C	CCDS6288.1																																																																																				0.358	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1		NM_152628		32	105	0	0	0	0.086207	0	32	105		
CSMD3	114788	broad.mit.edu	37	8	114185980	114185981	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:114185980_114185981GA>AT	ENST00000297405.5	-	4	923_924	c.679_680TC>AT	c.(679-681)TCg>ATg	p.S227M	CSMD3_ENST00000352409.3_Missense_Mutation_p.S227M|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S187M|CSMD3_ENST00000455883.2_Missense_Mutation_p.S227M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	227	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATCCCACGAAGCTGTATTA	0.431										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(679-681)TCG>ATG		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114185980_114185981GA>AT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.679_680delinsAT	8.37:g.114185980_114185981delinsAT	ENSP00000297405:p.Ser227Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.S187M|CSMD3_uc011lhx.1_Missense_Mutation_p.S227M|CSMD3_uc010mcx.1_Missense_Mutation_p.S227M	p.S227M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			4	838_839	-			227			Extracellular (Potential).|Sushi 1.		Q96PZ3	Missense_Mutation	DNP	ENST00000297405.5	37	c.679_680TC>AT	CCDS6315.1																																																																																				0.431	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		41	138	0	0	0	0.115264	0	41	138		
ATAD2	29028	broad.mit.edu	37	8	124382256	124382256	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:124382256C>T	ENST00000287394.5	-	7	843	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	246					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCACCCTCTTCAGATGACTCT	0.373																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(736-738)GAA>AAA		ATPase family, AAA domain containing 2							131.0	113.0	119.0					8																	124382256		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382256C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.736G>A	8.37:g.124382256C>T	ENSP00000287394:p.Glu246Lys					ATAD2_uc011lii.1_Missense_Mutation_p.E37K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E246K	p.E246K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	844	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		246					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.736G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826212	0.50739	.	.	ENSG00000156802	ENST00000287394	T	0.08282	3.11	4.7	4.7	0.59300	.	2.913340	0.00757	N	0.001112	T	0.13286	0.0322	L	0.43152	1.355	0.80722	D	1	B;B	0.22003	0.005;0.063	B;B	0.22386	0.008;0.039	T	0.40942	-0.9536	10	0.19590	T	0.45	-9.393	16.9213	0.86165	0.0:1.0:0.0:0.0	.	76;246	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	246	ENSP00000287394:E246K	ENSP00000287394:E246K	E	-	1	0	ATAD2	124451437	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.767000	0.62286	2.592000	0.87571	0.655000	0.94253	GAA		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		45	44	0	0	0	0.139131	0	45	44		
RHPN1	114822	broad.mit.edu	37	8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T	rs373261318		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:144457813C>T	ENST00000289013.6	+	2	252	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	51					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672																																						uc003yyb.2		NaN																	0				large_intestine(1)	1						c.(151-153)CGG>TGG		rhophilin 1			TRP/ARG	0,4256		0,0,2128	30.0	38.0	35.0		151	3.6	0.6	8		35	2,8434		0,2,4216	no	missense	RHPN1	NM_052924.2	101	0,2,6344	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging	51/671	144457813	2,12690	2128	4218	6346	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144457813C>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.151C>T	8.37:g.144457813C>T	ENSP00000289013:p.Arg51Trp						p.R51W	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		2	284	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		51			REM.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.151C>T	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521058	0.44866	0.0	2.37E-4	ENSG00000158106	ENST00000289013	T	0.23348	1.91	4.56	3.64	0.41730	.	0.134529	0.46758	D	0.000263	T	0.50752	0.1634	M	0.81802	2.56	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	T	0.54417	-0.8297	10	0.87932	D	0	-42.6307	11.3237	0.49436	0.4608:0.5392:0.0:0.0	.	51	Q8TCX5-2	.	W	51	ENSP00000289013:R51W	ENSP00000289013:R51W	R	+	1	2	RHPN1	144528956	1.000000	0.71417	0.648000	0.29521	0.294000	0.27393	1.816000	0.38992	0.840000	0.34995	0.639000	0.83563	CGG		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1				24	20	0	0	0	0.144211	0	24	20		
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTGGTGGTCAAAGAGCTTCCA	0.647																																						uc003zcc.1		NaN																	0					0						c.(115-117)AAA>AGA		G protein-coupled receptor 172A precursor							98.0	89.0	92.0					8																	145583069		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583069A>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.116A>G	8.37:g.145583069A>G	ENSP00000436768:p.Lys39Arg					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.K39R|GPR172A_uc003zce.1_Missense_Mutation_p.K39R|GPR172A_uc010mfy.1_Missense_Mutation_p.K39R|GPR172A_uc003zcf.1_Missense_Mutation_p.K39R|GPR172A_uc011llc.1_Intron	p.K39R	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	273	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		39					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.116A>G	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008546	0.54361	.	.	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.12	1.72	0.24424	.	0.177750	0.48767	D	0.000176	T	0.79639	0.4480	M	0.72118	2.19	0.52501	D	0.99995	D	0.69078	0.997	D	0.75020	0.985	T	0.74509	-0.3642	10	0.19147	T	0.46	.	6.2933	0.21071	0.7763:0.0:0.2237:0.0	.	39	Q9HAB3	RFT3_HUMAN	R	39	ENSP00000434239:K39R;ENSP00000435820:K39R;ENSP00000434728:K39R;ENSP00000433583:K39R;ENSP00000385961:K39R;ENSP00000431965:K39R;ENSP00000436768:K39R;ENSP00000333638:K39R;ENSP00000433796:K39R	ENSP00000333638:K39R	K	+	2	0	GPR172A	145553877	0.709000	0.27886	0.942000	0.38095	0.876000	0.50452	2.512000	0.45485	0.459000	0.27016	0.334000	0.21626	AAA		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1		NM_024531		3	40	0	0	0	0.115264	0	3	40		
TLE1	7088	broad.mit.edu	37	9	84235445	84235445	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:84235445G>A	ENST00000376499.3	-	9	1686	c.622C>T	c.(622-624)Cta>Tta	p.L208L	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	208	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTGCCTCTTAGACTGTCTGGG	0.408																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NaN																	0				ovary(1)|skin(1)	2						c.(622-624)CTA>TTA		transducin-like enhancer protein 1							156.0	141.0	146.0					9																	84235445		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84235445G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.622C>T	9.37:g.84235445G>A						TLE1_uc004alz.2_Silent_p.L218L|TLE1_uc011lsr.1_Silent_p.L208L|TLE1_uc004ama.1_Silent_p.L208L|TLE1_uc011lss.1_Silent_p.L134L	p.L208L	NM_005077	NP_005068	Q04724	TLE1_HUMAN			9	1063	-			208			CCN domain.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.622C>T	CCDS6661.1																																																																																				0.408	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077		16	50	0	0	0	0.043863	0	16	50		
SUSD3	203328	broad.mit.edu	37	9	95840160	95840160	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:95840160G>A	ENST00000375472.3	+	3	346	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	SUSD3_ENST00000375469.1_Missense_Mutation_p.V91M	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	104						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						TGGCTTCAAGGTGGCCGTGAT	0.597																																						uc004atb.2		NaN																	0				breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(310-312)GTG>ATG		sushi domain containing 3							205.0	137.0	160.0					9																	95840160		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840160G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.310G>A	9.37:g.95840160G>A	ENSP00000364621:p.Val104Met					SUSD3_uc004atc.2_Missense_Mutation_p.V91M	p.V104M	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			3	346	+			104			Helical; (Potential).		Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.310G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322781	0.60634	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.69306	-0.39;0.02	5.56	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.68317	2.08	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.96	T	0.80903	-0.1174	10	0.87932	D	0	-21.3172	12.539	0.56158	0.081:0.0:0.919:0.0	.	91;104	Q96L08-2;Q96L08	.;SUSD3_HUMAN	M	104;91	ENSP00000364621:V104M;ENSP00000364618:V91M	ENSP00000364618:V91M	V	+	1	0	SUSD3	94879981	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	5.038000	0.64177	1.505000	0.48720	0.561000	0.74099	GTG		0.597	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1		NM_145006		27	33	0	0	0	0.059317	0	27	33		
ZNF462	58499	broad.mit.edu	37	9	109688322	109688322	+	Missense_Mutation	SNP	C	C	G	rs563504428		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:109688322C>G	ENST00000277225.5	+	3	2418	c.2129C>G	c.(2128-2130)aCc>aGc	p.T710S	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.T710S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	710					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTAACCAAACCAAACAGCAG	0.453																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(2128-2130)ACC>AGC		zinc finger protein 462							169.0	153.0	159.0					9																	109688322		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688322C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2129C>G	9.37:g.109688322C>G	ENSP00000277225:p.Thr710Ser					ZNF462_uc010mto.2_Missense_Mutation_p.T558S|ZNF462_uc004bda.2_Missense_Mutation_p.T558S	p.T710S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2418	+			710					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2129C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	1.557	-0.537677	0.04082	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.04406	3.63;4.07	5.87	4.97	0.65823	.	0.131079	0.64402	N	0.000001	T	0.02727	0.0082	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.001	T	0.51482	-0.8700	9	.	.	.	.	9.8127	0.40833	0.1981:0.6746:0.1273:0.0	.	710;710	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	710	ENSP00000277225:T710S;ENSP00000414570:T710S	.	T	+	2	0	ZNF462	108728143	1.000000	0.71417	0.868000	0.34077	0.778000	0.44026	3.364000	0.52328	1.457000	0.47850	0.650000	0.86243	ACC		0.453	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		36	70	0	0	0	0.086207	0	36	70		
AK1	203	broad.mit.edu	37	9	130630320	130630320	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130630320G>A	ENST00000373176.1	-	7	704	c.552C>T	c.(550-552)tcC>tcT	p.S184S	MIR4672_ENST00000583126.1_RNA|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S184S|AK1_ENST00000223836.10_Silent_p.S200S	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TGCAGACCTGGGAGAAGACAC	0.662																																						uc004bsm.3		NaN																	0					0						c.(550-552)TCC>TCT		adenylate kinase 1							85.0	78.0	80.0					9																	130630320		2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130630320G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.552C>T	9.37:g.130630320G>A							p.S184S	NM_000476	NP_000467	P00568	KAD1_HUMAN			7	705	-			184						Silent	SNP	ENST00000373176.1	37	c.552C>T	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481393	0.44147	.	.	ENSG00000106992	ENST00000413016	.	.	.	5.19	-2.26	0.06867	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.32058	N	0.596113	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-13.134	1.821	0.03110	0.142:0.2967:0.2712:0.2901	.	.	.	.	L	125	.	.	P	-	2	0	AK1	129670141	0.000000	0.05858	0.985000	0.45067	0.996000	0.88848	-0.563000	0.05943	-0.262000	0.09392	0.655000	0.94253	CCC		0.662	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1				20	41	0	0	0	0.076483	0	20	41		
ST6GALNAC4	27090	broad.mit.edu	37	9	130670821	130670821	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130670821C>G	ENST00000335791.5	-	6	1034	c.759G>C	c.(757-759)gaG>gaC	p.E253D	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.E169D|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	253					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GCCGGCCCTTCTCAAAGTAGT	0.647																																						uc004bss.2		NaN																	0					0						c.(757-759)GAG>GAC		sialyltransferase 7D isoform a							60.0	62.0	61.0					9																	130670821		2203	4300	6503	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130670821C>G	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.759G>C	9.37:g.130670821C>G	ENSP00000336733:p.Glu253Asp					ST6GALNAC4_uc004bst.2_Missense_Mutation_p.E169D	p.E253D	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN			6	1035	-			253			Lumenal (Potential).		Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.759G>C	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896272	0.72639	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.28454	1.61;1.61;1.61	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.36672	1.1	0.49299	D	0.999772	D	0.71674	0.998	D	0.75020	0.985	T	0.05632	-1.0873	10	0.19590	T	0.45	-21.2532	11.0018	0.47611	0.0:0.9126:0.0:0.0874	.	253	Q9H4F1	SIA7D_HUMAN	D	169;253;169;169	ENSP00000336733:E253D;ENSP00000340382:E169D;ENSP00000355130:E169D	ENSP00000336733:E253D	E	-	3	2	ST6GALNAC4	129710642	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.684000	0.37649	2.532000	0.85374	0.561000	0.74099	GAG		0.647	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2		NM_175040		44	48	0	0	0	0.139131	0	44	48		
FAM102A	399665	broad.mit.edu	37	9	130742369	130742369	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130742369G>A	ENST00000373095.1	-	1	423	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	16										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CCTCCAGGGTGAAAGTAGTTT	0.522																																						uc004bsx.1		NaN																	0				ovary(1)	1						c.(46-48)TTC>TTT		early estrogen-induced gene 1 protein isoform a							118.0	133.0	128.0					9																	130742369		2203	4300	6503	SO:0001819	synonymous_variant	399665							g.chr9:130742369G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.48C>T	9.37:g.130742369G>A							p.F16F	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			1	127	-			16					A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	37	c.48C>T	CCDS35150.1																																																																																				0.522	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2				51	107	0	0	0	0.139131	0	51	107		
AGPAT2	10555	broad.mit.edu	37	9	139571568	139571568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:139571568C>A	ENST00000371696.2	-	3	402	c.337G>T	c.(337-339)Gag>Tag	p.E113*	AGPAT2_ENST00000538402.1_Nonsense_Mutation_p.E113*|AGPAT2_ENST00000371694.3_Nonsense_Mutation_p.E113*	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	113					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		ACGCAGCGCTCCGGAAGGACC	0.647																																						uc004cii.1		NaN																	0					0						c.(337-339)GAG>TAG		1-acylglycerol-3-phosphate O-acyltransferase 2							43.0	49.0	47.0					9																	139571568		2203	4300	6503	SO:0001587	stop_gained	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571568C>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.337G>T	9.37:g.139571568C>A	ENSP00000360761:p.Glu113*					AGPAT2_uc004cij.1_Nonsense_Mutation_p.E113*	p.E113*	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	439	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	113					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Nonsense_Mutation	SNP	ENST00000371696.2	37	c.337G>T	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045919	0.55110	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	.	.	.	4.75	-9.5	0.00584	.	0.954261	0.08692	N	0.907727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1876	10.5694	0.45192	0.0:0.5209:0.3262:0.1528	.	.	.	.	X	113	.	ENSP00000360759:E113X	E	-	1	0	AGPAT2	138691389	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	0.134000	0.15932	-2.231000	0.00718	-0.471000	0.05019	GAG		0.647	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1		NM_006412		9	22	1	0	0.00621372	0.058154	0.00630312	9	22		
NELFB	25920	broad.mit.edu	37	9	140151344	140151344	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:140151344G>A	ENST00000343053.4	+	4	772	c.435G>A	c.(433-435)gtG>gtA	p.V145V		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	145					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCGTGGAGGTGAAGCGGCAGA	0.567																																						uc004cmm.3		NaN																	0					0						c.(433-435)GTG>GTA		cofactor of BRCA1							93.0	82.0	86.0					9																	140151344		2203	4300	6503	SO:0001819	synonymous_variant	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140151344G>A	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.435G>A	9.37:g.140151344G>A							p.V145V	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	4	638	+	all_cancers(76;0.0926)		145					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	c.435G>A	CCDS7040.1																																																																																				0.567	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1		NM_015456		7	35	0	0	0	0.058154	0	7	35		
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(673-675)CAG>GAG		hypothetical protein LOC442444							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	687	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		4	72	0	0	0	0.021553	0	4	72		
MSN	4478	broad.mit.edu	37	X	64959692	64959692	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:64959692G>A	ENST00000360270.5	+	13	1843	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	557					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						ACAAATACAAGACCCTGCGCC	0.547			T	ALK	ALCL																																	uc004dwf.2		NaN		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1669-1671)AAG>AAA		moesin							128.0	100.0	110.0					X																	64959692		2203	4300	6503	SO:0001819	synonymous_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64959692G>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1671G>A	X.37:g.64959692G>A							p.K557K	NM_002444	NP_002435	P26038	MOES_HUMAN			13	1869	+			557						Silent	SNP	ENST00000360270.5	37	c.1671G>A	CCDS14382.1																																																																																				0.547	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1		NM_002444		43	58	0	0	0	0.139131	0	43	58		
ACRC	93953	broad.mit.edu	37	X	70823836	70823836	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:70823836G>A	ENST00000373695.1	+	7	1246	c.709G>A	c.(709-711)Gac>Aac	p.D237N	ACRC_ENST00000373696.3_Missense_Mutation_p.D237N			Q96QF7	ACRC_HUMAN	acidic repeat containing	237	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTTCCCGACGACAGCAGTGA	0.537																																						uc004eae.2		NaN																	0				ovary(3)	3						c.(709-711)GAC>AAC		ACRC protein							234.0	201.0	212.0					X																	70823836		2203	4299	6502	SO:0001583	missense	93953					nucleus		g.chrX:70823836G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.709G>A	X.37:g.70823836G>A	ENSP00000362799:p.Asp237Asn					BCYRN1_uc011mpt.1_Intron	p.D237N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1210	+	Renal(35;0.156)		237			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.709G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	8.002	0.755533	0.15846	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.41758	0.99;0.99	0.131	0.131	0.14755	.	.	.	.	.	T	0.22820	0.0551	N	0.19112	0.55	0.09310	N	1	B	0.21381	0.055	B	0.08055	0.003	T	0.19877	-1.0292	9	0.62326	D	0.03	.	2.9116	0.05739	2.0E-4:2.0E-4:0.5072:0.4923	.	237	Q96QF7	ACRC_HUMAN	N	237	ENSP00000362800:D237N;ENSP00000362799:D237N	ENSP00000362799:D237N	D	+	1	0	ACRC	70740561	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.040000	0.03546	0.157000	0.19338	0.158000	0.16466	GAC		0.537	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1				248	47	0	0	0	0.139131	0	248	47		
PAK3	5063	broad.mit.edu	37	X	110439755	110439755	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:110439755G>A	ENST00000372010.1	+	17	1781	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	PAK3_ENST00000372007.5_Missense_Mutation_p.E432K|PAK3_ENST00000360648.4_Missense_Mutation_p.E468K|PAK3_ENST00000417227.1_Missense_Mutation_p.E453K|PAK3_ENST00000425146.1_Missense_Mutation_p.E432K|PAK3_ENST00000518291.1_Missense_Mutation_p.E468K|PAK3_ENST00000262836.4_Missense_Mutation_p.E447K|PAK3_ENST00000446737.1_Missense_Mutation_p.E432K|PAK3_ENST00000519681.1_Missense_Mutation_p.E453K			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATGGCACCTGAGGTGGTGAC	0.468										TSP Lung(19;0.15)																												uc004epa.2		NaN																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(1339-1341)GAG>AAG		p21-activated kinase 3 isoform d							131.0	120.0	124.0					X																	110439755		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439755G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1339G>A	X.37:g.110439755G>A	ENSP00000361080:p.Glu447Lys	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.E432K|PAK3_uc010npu.1_Missense_Mutation_p.E432K|PAK3_uc004eoy.1_Missense_Mutation_p.E187K|PAK3_uc004eoz.2_Missense_Mutation_p.E432K|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.E468K|PAK3_uc010npw.1_Missense_Mutation_p.E453K	p.E447K	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			13	1366	+			447			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1339G>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289156	0.95517	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	H	0.99758	4.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97693	1.0180	10	0.87932	D	0	.	18.0833	0.89449	0.0:0.0:1.0:0.0	.	453;468;447;432;447	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	K	432;432;447;453;432;468;468;453;447	ENSP00000410853:E432K;ENSP00000401982:E432K;ENSP00000361080:E447K;ENSP00000429113:E453K;ENSP00000361077:E432K;ENSP00000428921:E468K;ENSP00000353864:E468K;ENSP00000389172:E453K;ENSP00000262836:E447K	ENSP00000262836:E447K	E	+	1	0	PAK3	110326411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.455000	0.97625	2.293000	0.77203	0.594000	0.82650	GAG		0.468	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578		49	57	0	0	0	0.139131	0	49	57		
KLHL13	90293	broad.mit.edu	37	X	117053581	117053581	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:117053581G>C	ENST00000262820.3	-	4	1382	c.473C>G	c.(472-474)tCt>tGt	p.S158C	KLHL13_ENST00000540167.1_Missense_Mutation_p.S142C|KLHL13_ENST00000371882.1_Missense_Mutation_p.S107C|KLHL13_ENST00000545703.1_Missense_Mutation_p.S116C|KLHL13_ENST00000371876.1_Missense_Mutation_p.S107C|KLHL13_ENST00000371878.1_Missense_Mutation_p.S107C|KLHL13_ENST00000539496.1_Missense_Mutation_p.S161C|KLHL13_ENST00000469946.1_Missense_Mutation_p.S107C|KLHL13_ENST00000541812.1_Missense_Mutation_p.S142C	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	158	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATATTAAGAGAAAGCTTTGC	0.383																																						uc004eql.2		NaN																	0				kidney(1)|skin(1)	2						c.(472-474)TCT>TGT		kelch-like 13							72.0	75.0	74.0					X																	117053581		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053581G>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.473C>G	X.37:g.117053581G>C	ENSP00000262820:p.Ser158Cys					KLHL13_uc004eqk.2_Missense_Mutation_p.S107C|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.S152C|KLHL13_uc011mtp.1_Missense_Mutation_p.S160C|KLHL13_uc004eqm.2_Missense_Mutation_p.S107C|KLHL13_uc011mtq.1_Missense_Mutation_p.S142C	p.S158C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			4	535	-			158			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.473C>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	5.873	0.345306	0.11126	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.07	4.2	0.49525	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	L	0.53729	1.69	0.54753	D	0.999983	B;B;B;B	0.21753	0.06;0.02;0.015;0.034	B;B;B;B	0.24269	0.049;0.009;0.021;0.052	T	0.60388	-0.7273	10	0.45353	T	0.12	.	14.0853	0.64951	0.0:0.0:0.8484:0.1516	.	142;161;152;158	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	C	107;107;107;107;142;142;161;158;116;107	ENSP00000360949:S107C;ENSP00000360943:S107C;ENSP00000360945:S107C;ENSP00000412640:S107C;ENSP00000444450:S142C;ENSP00000441029:S142C;ENSP00000443191:S161C;ENSP00000262820:S158C;ENSP00000440707:S116C;ENSP00000419803:S107C	ENSP00000262820:S158C	S	-	2	0	KLHL13	116937609	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	9.657000	0.98554	1.105000	0.41606	-0.382000	0.06688	TCT		0.383	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_033495		23	43	0	0	0	0.099896	0	23	43		
CDR1	1038	broad.mit.edu	37	X	139866322	139866322	+	Silent	SNP	C	C	T	rs191541717		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:139866322C>T	ENST00000370532.2	-	1	401	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	70	23 X 6 AA approximate repeats.							p.S70S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCATAGCTTCCGAAAAATCCA	0.458													C|||	1	0.000264901	0.0	0.0	3775	,	,		15685	0.0		0.001	False		,,,				2504	0.0					uc004fbg.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(208-210)TCG>TCA		cerebellar degeneration-related protein 1,							82.0	80.0	80.0					X																	139866322		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139866322C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.210G>A	X.37:g.139866322C>T						uc004fbf.1_RNA	p.S70S	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	402	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	70			23 X 6 AA approximate repeats.|12.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.210G>A	CCDS14670.1																																																																																				0.458	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1		NM_004065		3	48	0	0	0	0.115264	0	3	48		
SPANXN2	494119	broad.mit.edu	37	X	142795255	142795255	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:142795255C>T	ENST00000370498.1	-	2	1176	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	141										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGAGTCCAGGTCTTCGT	0.517																																						uc004fbz.2		NaN																	0				ovary(1)	1						c.(421-423)CTG>CTA		SPANX-N2 protein							169.0	158.0	162.0					X																	142795255		2203	4298	6501	SO:0001819	synonymous_variant	494119							g.chrX:142795255C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.423G>A	X.37:g.142795255C>T							p.L141L	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1177	-	Acute lymphoblastic leukemia(192;6.56e-05)		141					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.423G>A	CCDS35419.1																																																																																				0.517	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2		NM_001009615		6	227	0	0	0	0.105934	0	6	227		
MAGEA6	4105	broad.mit.edu	37	X	151870055	151870055	+	Missense_Mutation	SNP	T	T	C	rs140963484	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151870055T>C	ENST00000329342.5	+	3	970	c.745T>C	c.(745-747)Tat>Cat	p.Y249H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACCCAATATTTCGTGCA	0.547																																						uc004ffq.1		NaN																	0					0						c.(745-747)TAT>CAT		melanoma antigen family A, 6		C	HIS/TYR,HIS/TYR	0,3835		0,0,0,1632,571	148.0	144.0	146.0		745,745	-1.2	0.0	X	dbSNP_134	146	12,6715		0,10,2,2418,1869	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	83,83	0,10,2,4050,2440	CC,CT,C,TT,T		0.1784,0.0,0.1136	benign,benign	249/315,249/315	151870055	12,10550	2203	4299	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870055T>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.745T>C	X.37:g.151870055T>C	ENSP00000329199:p.Tyr249His					MAGEA6_uc004ffr.1_Missense_Mutation_p.Y249H|MAGEA2_uc010nto.2_Intron	p.Y249H	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	939	+	Acute lymphoblastic leukemia(192;6.56e-05)		249			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.745T>C	CCDS14708.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	N	0.249	-1.007679	0.02112	0.0	0.001784	ENSG00000197172	ENST00000329342	T	0.04654	3.58	0.605	-1.21	0.09524	.	.	.	.	.	T	0.01835	0.0058	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	7	0.66056	D	0.02	.	.	.	.	.	249	P43360	MAGA6_HUMAN	H	249	ENSP00000329199:Y249H	ENSP00000329199:Y249H	Y	+	1	0	MAGEA6	151620711	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.165000	0.09968	-2.037000	0.00920	-3.290000	0.00046	TAT		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2		NM_005363		21	89	0	0	0	0.083992	0	21	89		
MAGEA3	4102	broad.mit.edu	37	X	151935357	151935357	+	Silent	SNP	T	T	C	rs35014597	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151935357T>C	ENST00000393902.3	-	3	1377	c.810A>G	c.(808-810)gaA>gaG	p.E270E	MAGEA3_ENST00000370278.3_Silent_p.E270E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	270	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGAATTCATAACATG	0.532													N|||	6	0.0015894	0.0023	0.0	3775	,	,		14248	0.0		0.0	False		,,,				2504	0.0031					uc004fgp.2		NaN																	0					0						c.(808-810)GAA>GAG		melanoma antigen family A, 3		C		6,3828		0,5,1,1627,569	132.0	128.0	130.0		810	1.4	0.5	X	dbSNP_126	130	2,6720		0,1,1,2427,1865	no	coding-synonymous	MAGEA3	NM_005362.3		0,6,2,4054,2434	CC,CT,C,TT,T		0.0298,0.1565,0.0758		270/315	151935357	8,10548	2202	4294	6496	SO:0001819	synonymous_variant	4102							g.chrX:151935357T>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.810A>G	X.37:g.151935357T>C							p.E270E	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	1019	-	Acute lymphoblastic leukemia(192;6.56e-05)		270			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.810A>G	CCDS14715.1																																																																																				0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1		NM_005362		4	145	0	0	0	0.038147	0	4	145		
MAGEA3	4102	broad.mit.edu	37	X	151935363	151935363	+	Silent	SNP	A	A	G	rs35137903		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151935363A>G	ENST00000393902.3	-	3	1371	c.804T>C	c.(802-804)tgT>tgC	p.C268C	MAGEA3_ENST00000370278.3_Silent_p.C268C			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	268	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATTCATAACATGCAGGAT	0.517													N|||	9	0.00238411	0.0023	0.0	3775	,	,		14102	0.003		0.0	False		,,,				2504	0.0031					uc004fgp.2		NaN																	0					0						c.(802-804)TGT>TGC		melanoma antigen family A, 3		G		5,3829		0,4,1,1628,569	127.0	124.0	125.0		804	1.4	0.0	X	dbSNP_126	125	2,6719		0,1,1,2427,1864	no	coding-synonymous	MAGEA3	NM_005362.3		0,5,2,4055,2433	GG,GA,G,AA,A		0.0298,0.1304,0.0663		268/315	151935363	7,10548	2202	4293	6495	SO:0001819	synonymous_variant	4102							g.chrX:151935363A>G		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.804T>C	X.37:g.151935363A>G							p.C268C	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	1013	-	Acute lymphoblastic leukemia(192;6.56e-05)		268			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.804T>C	CCDS14715.1																																																																																				0.517	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1		NM_005362		7	138	0	0	0	0.080935	0	7	138		
HCFC1	3054	broad.mit.edu	37	X	153224926	153224926	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:153224926G>A	ENST00000310441.7	-	9	2427	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	HCFC1_ENST00000354233.3_Silent_p.L418L|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Silent_p.L487L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	487					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTCACTTTGAGAACAGCAG	0.612																																						uc004fjp.2		NaN																	0				ovary(2)	2						c.(1459-1461)CTC>CTT		host cell factor 1							63.0	67.0	65.0					X																	153224926		2111	4205	6316	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153224926G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1461C>T	X.37:g.153224926G>A							p.L487L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			9	1989	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		487					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1461C>T	CCDS44020.1																																																																																				0.612	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		16	26	0	0	0	0.049695	0	16	26		
TIGD3	220359	broad.mit.edu	37	11	65124162	65124162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:65124162delC	ENST00000309880.5	+	2	1090	c.883delC	c.(883-885)cccfs	p.P295fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	295	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CACCACGCCTCCCCTGCCCAG	0.652																																						uc001odo.3		NaN																	0					0						c.(883-885)CCCfs		tigger transposable element derived 3							31.0	36.0	34.0					11																	65124162		2199	4288	6487	SO:0001589	frameshift_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124162delC		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.883delC	11.37:g.65124162delC	ENSP00000308354:p.Pro295fs						p.P295fs	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1046	+			295			DDE.			Frame_Shift_Del	DEL	ENST00000309880.5	37	c.883delC	CCDS8101.1																																																																																				0.652	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1		NM_145719		24	69	NaN	NaN	NaN	NaN	NaN	24	69	---	---
LTBP3	4054	broad.mit.edu	37	11	65315174	65315174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:65315174delC	ENST00000301873.5	-	13	2233	c.1965delG	c.(1963-1965)gggfs	p.G655fs	LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.G85fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.G281fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.G655fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	655	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCACGAGCGCCCCCCGGCGC	0.736																																						uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(1963-1965)GGGfs		latent transforming growth factor beta binding							8.0	10.0	9.0					11																	65315174		2158	4217	6375	SO:0001589	frameshift_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315174delC	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1965delG	11.37:g.65315174delC	ENSP00000301873:p.Gly655fs					LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Frame_Shift_Del_p.G85fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.G538fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.G655fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.G356fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G566fs	p.G655fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			13	2234	-			655			EGF-like 4; calcium-binding (Potential).|Cys-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	c.1965delG	CCDS44647.1																																																																																				0.736	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs60706203|rs66793222|rs143833222		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000559941.1_5'Flank|CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8906617, ECO:0000269|PubMed:9009220, ECO:0000269|PubMed:9921897}.		activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	gcagcagagacagcagcagcagc	0.768																																						uc002bec.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(67-69)CTGdel		cholinergic receptor, nicotinic, alpha 3																																				SO:0001651	inframe_deletion	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78913068_78913070delCAG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.67_69delCTG	15.37:g.78913077_78913079delCAG	ENSP00000315602:p.Leu23del					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del	p.L23del	NM_000743	NP_000734	P32297	ACHA3_HUMAN			1	253_255	-			23		Missing.			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	In_Frame_Del	DEL	ENST00000326828.5	37	c.67_69delCTG	CCDS10305.1																																																																																				0.768	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3				3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
SCRT2	85508	broad.mit.edu	37	20	644846	644847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:644846_644847insC	ENST00000246104.6	-	2	969_970	c.392_393insG	c.(391-393)ggcfs	p.G131fs	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	131					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						cgtctcccgagccccccgcgtc	0.822																																						uc002wec.2		NaN																	0					0						c.(391-393)GGCfs		scratch 2 protein																																				SO:0001589	frameshift_variant	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644846_644847insC		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.393dupG	20.37:g.644852_644852dupC	ENSP00000246104:p.Gly131fs					SRXN1_uc002web.2_Intron	p.G131fs	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN			2	970_971	-			131						Frame_Shift_Ins	INS	ENST00000246104.6	37	c.392_393insG	CCDS13006.1																																																																																				0.822	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2		NM_033129		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	uc002wwl.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(430-432)TTCfs		BCL2-like 1 isoform 1							199.0	198.0	199.0					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Frame_Shift_Del_p.F144fs|BCL2L1_uc002wwo.1_Frame_Shift_Del_p.F144fs	p.F144fs	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	797	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144			BH1.		E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1		NM_138578		7	1557	NaN	NaN	NaN	NaN	NaN	7	1557	---	---
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																						uc002yaz.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)	ovary(3)|lung(2)	5						c.(2362-2364)ATGfs		synaptonemal complex protein 2							72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467047delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs						p.M788fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		23	2501	-	all_lung(29;0.00344)		788					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.2362delA	CCDS13482.1																																																																																				0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3		NM_014258		7	74	NaN	NaN	NaN	NaN	NaN	7	74	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773342	145773344	+	In_Frame_Del	DEL	CTG	CTG	-	rs138155129	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:145773342_145773344delCTG	ENST00000276826.5	-	4	1327_1329	c.1126_1128delCAG	c.(1126-1128)cagdel	p.Q376del	ARHGAP39_ENST00000377307.2_In_Frame_Del_p.Q376del|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_In_Frame_Del_p.Q376del			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	376					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGGGACACTTCTGCTTGGTGAGC	0.704														89	0.0177716	0.0045	0.0187	5008	,	,		14552	0.0		0.0626	False		,,,				2504	0.0072					uc003zdt.1		NaN																	0					0						c.(1126-1128)CAGdel		KIAA1688 protein				76,4134		6,64,2035						5.4	1.0		dbSNP_131	14	592,7572		48,496,3538	no	coding	ARHGAP39	NM_025251.1		54,560,5573	A1A1,A1R,RR		7.2513,1.8052,5.3984				668,11706				SO:0001651	inframe_deletion	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773342_145773344delCTG		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1126_1128delCAG	8.37:g.145773342_145773344delCTG	ENSP00000276826:p.Gln376del					ARHGAP39_uc011llk.1_In_Frame_Del_p.Q376del|ARHGAP39_uc003zds.1_In_Frame_Del_p.Q376del	p.Q376del	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1681_1683	-			376					B4E1I1	In_Frame_Del	DEL	ENST00000276826.5	37	c.1126_1128delCAG																																																																																					0.704	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1				9	4	NaN	NaN	NaN	NaN	NaN	9	4	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						uc010ntv.1		NaN																	0				ovary(3)	3						c.(475-477)GAGdel		zinc finger protein 185			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_uc011myg.1_In_Frame_Del_p.E165del|ZNF185_uc011myh.1_In_Frame_Del_p.E165del|ZNF185_uc011myi.1_In_Frame_Del_p.E165del|ZNF185_uc011myj.1_In_Frame_Del_p.E165del|ZNF185_uc011myk.1_In_Frame_Del_p.E165del|ZNF185_uc004fgw.3_In_Frame_Del_p.E30del|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank	p.E165del	NM_007150	NP_009081	O15231	ZN185_HUMAN			7	512_514	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1		NM_007150		7	38	NaN	NaN	NaN	NaN	NaN	7	38	---	---
