#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTHFR	4524	broad.mit.edu	37	1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	rs574132670		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.001					ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(547-549)cGa>cAa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						366.0	277.0	307.0					1																	11860307		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860307C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.548G>A	1.37:g.11860307C>T	ENSP00000365777:p.Arg183Gln		Somatic				MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q	p.R183Q			WXS	Illumina GAIIx	Phase_I	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	676	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	183					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.548G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102810	0.97286	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.945;0.991	D	0.97196	0.9861	10	0.87932	D	0	.	18.5335	0.91001	0.0:1.0:0.0:0.0	.	183;224	P42898;Q5SNW6	MTHR_HUMAN;.	Q	183;224;183;224	ENSP00000365777:R183Q;ENSP00000365767:R224Q;ENSP00000365775:R183Q;ENSP00000365770:R224Q	ENSP00000365767:R224Q	R	-	2	0	MTHFR	11782894	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	7.183000	0.77697	2.735000	0.93741	0.549000	0.68633	CGA		0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		5	266	5	266	---	---	---	---
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gCg>gTg		heterogeneous nuclear ribonucleoprotein C-like 1							171.0	158.0	163.0					1																	12908039		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val		Somatic					p.A35V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina GAIIx	Phase_I					2	329	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	184	6	184	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65142590	65142590	+	Silent	SNP	C	C	T	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000290039.5_Silent_p.C945C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2986-2988)tgC>tgT		cache domain containing 1		C		0,4406		0,0,2203	124.0	121.0	122.0		2835	-6.5	0.9	1	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACHD1	NM_020925.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		945/1224	65142590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65142590C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2988C>T	1.37:g.65142590C>T			Somatic				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C	p.C996C			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			22	2988	+			996					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.2988C>T																																																																																					0.547	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		27	198	27	198	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	rs370989483		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	885					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2653-2655)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	4,3996		0,4,1996	166.0	162.0	163.0		2654	-0.4	0.0	1		163	1,8367		0,1,4183	no	missense	SPTA1	NM_003126.2	29	0,5,6179	TT,TC,CC		0.012,0.1,0.0404	benign	885/2420	158627418	5,12363	2000	4184	6184	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627418C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2654G>A	1.37:g.158627418C>T	ENSP00000357129:p.Arg885His		Somatic					p.R885H	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			19	2834	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2654G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140129	0.21205	0.001	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.67	-0.359	0.12571	.	1.560760	0.04732	N	0.421205	T	0.17408	0.0418	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.23762	-1.0179	10	0.24483	T	0.36	.	9.0397	0.36309	0.0:0.2422:0.0:0.7578	.	885	P02549	SPTA1_HUMAN	H	885	ENSP00000357130:R885H;ENSP00000357129:R885H	ENSP00000357129:R885H	R	-	2	0	SPTA1	156894042	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	1.879000	0.39618	-0.123000	0.11745	0.655000	0.94253	CGT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	187	15	187	---	---	---	---
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368046.3	-	2	364	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Aca		CD48 molecule							167.0	164.0	165.0					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>A	1.37:g.160654785C>T	ENSP00000357025:p.Ala93Thr		Somatic				CD48_ENST00000368046.3_Missense_Mutation_p.A93T	p.A93T			WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460558	0.26248	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.62498	0.02;0.02	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.43010	0.1228	L	0.49350	1.555	0.09310	N	1	B;D;P	0.54047	0.402;0.964;0.912	B;P;P	0.48815	0.136;0.591;0.572	T	0.35847	-0.9772	10	0.54805	T	0.06	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	T	93	ENSP00000357025:A93T;ENSP00000357024:A93T	ENSP00000357024:A93T	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	166	4	166	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247712451	247712451	+	5'UTR	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:247712451G>T	ENST00000366488.4	+	0	62				GCSAML_ENST00000366490.3_Missense_Mutation_p.W107L|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		TTCCCCAAGTGGAGTGAAACT	0.517																																						ENST00000366490.3																			0											c.(319-321)tGg>tTg		germinal center-associated, signaling and motility-like							71.0	68.0	69.0					1																	247712451		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148823							g.chr1:247712451G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.-43G>T	1.37:g.247712451G>T			Somatic				GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR	p.W107L			WXS	Illumina GAIIx	Phase_I					4	478	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.320G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415155	0.11870	.	.	ENSG00000169224	ENST00000366490	.	.	.	2.44	-0.632	0.11523	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.22317	N	0.999205	.	.	.	.	.	.	T	0.38286	-0.9668	5	0.87932	D	0	.	3.0993	0.06320	0.2889:0.2305:0.4806:0.0	.	.	.	.	L	107	.	ENSP00000355446:W107L	W	+	2	0	C1orf150	245779074	0.063000	0.20901	0.000000	0.03702	0.012000	0.07955	0.884000	0.28214	-0.144000	0.11314	-1.239000	0.01543	TGG		0.517	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		3	53	3	53	---	---	---	---
FAM228A	653140	broad.mit.edu	37	2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	113																	CTTCACACTGTGTGATTCCAA	0.408																																						ENST00000295150.3																			0											c.(337-339)tgT>tgA		family with sequence similarity 228, member A							59.0	55.0	56.0					2																	24406452		1869	4111	5980	SO:0001587	stop_gained	653140							g.chr2:24406452T>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.339T>A	2.37:g.24406452T>A	ENSP00000295150:p.Cys113*		Somatic				RP11-507M3.1_ENST00000584973.1_3'UTR	p.C113*	NM_001040710.1	NP_001035800.1	WXS	Illumina GAIIx	Phase_I					5	425	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.339T>A	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.35|14.35	2.510584|2.510584	0.44660|0.44660	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150;ENST00000415196|ENST00000432434	.|.	.|.	.|.	3.81|3.81	-7.62|-7.62	0.01294|0.01294	.|.	1.843360|.	0.02704|.	N|.	0.112108|.	.|T	.|0.18341	.|0.0440	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13710	.|-1.0499	.|3	0.35671|.	T|.	0.21|.	1.1237|1.1237	4.1857|4.1857	0.10397|0.10397	0.1026:0.1199:0.2043:0.5732|0.1026:0.1199:0.2043:0.5732	.|.	.|.	.|.	.|.	X|E	113;14|151	.|.	ENSP00000295150:C113X|.	C|V	+|+	3|2	2|0	C2orf84|C2orf84	24259956|24259956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.851000|-0.851000	0.04313|0.04313	-2.747000|-2.747000	0.00376|0.00376	-0.479000|-0.479000	0.04858|0.04858	TGT|GTG		0.408	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		3	43	3	43	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3949-3951)aAg>aGg		leucine-rich pentatricopeptide repeat containing							69.0	74.0	72.0					2																	44121719		2202	4282	6484	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121719T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3950A>G	2.37:g.44121719T>C	ENSP00000260665:p.Lys1317Arg		Somatic					p.K1317R	NM_133259.3	NP_573566.2	WXS	Illumina GAIIx	Phase_I	P42704	LPPRC_HUMAN			36	4007	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1317			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3950A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810430	0.16537	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	T	0.12984	2.63	5.84	2.17	0.27698	.	0.466130	0.23213	N	0.050649	T	0.07098	0.0180	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.34601	-0.9822	10	0.17369	T	0.5	-7.4497	1.6592	0.02787	0.1242:0.2115:0.3539:0.3104	.	1317	P42704	LPPRC_HUMAN	R	1317;64	ENSP00000260665:K1317R	ENSP00000260665:K1317R	K	-	2	0	LRPPRC	43975223	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.062000	0.14389	0.448000	0.26722	0.528000	0.53228	AAG		0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		3	81	3	81	---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74750268	74750268	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Silent_p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1120-1122)ttG>ttA		DEAQ box RNA-dependent ATPase 1							182.0	179.0	180.0					2																	74750268		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750268C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1122G>A	2.37:g.74750268C>T			Somatic				DQX1_ENST00000393951.2_Silent_p.L374L	p.L374L	NM_133637.2	NP_598376.2	WXS	Illumina GAIIx	Phase_I	Q8TE96	DQX1_HUMAN			6	1341	-			374			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1122G>A	CCDS1949.2																																																																																				0.507	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	193	7	193	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109365452	109365452	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1138-1140)agC>agT		RAN binding protein 2							183.0	199.0	194.0					2																	109365452		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365452C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1140C>T	2.37:g.109365452C>T			Somatic					p.S380S	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			9	1266	+			380					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1140C>T	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	232	6	232	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCACAGCCAGGTTCTCTGGG	0.353																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1414-1416)Ctg>Ttg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						81.0	88.0	85.0					2																	170136033		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170136033G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1414C>T	2.37:g.170136033G>A			Somatic				LRP2_ENST00000443831.1_Silent_p.L472L	p.L472L	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1699	-			472					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.1414C>T	CCDS2232.1																																																																																				0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	77	19	77	---	---	---	---
DNPEP	23549	broad.mit.edu	37	2	220251660	220251660	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|AC053503.4_ENST00000420563.1_RNA			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGTTCACTGAAGCCAGC	0.587																																						ENST00000373972.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17								aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						90.0	91.0	90.0					2																	220251660		1941	4134	6075			23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251660C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000373972.1:c.-53G>A	2.37:g.220251660C>T			Somatic				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N				WXS	Illumina GAIIx	Phase_I	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	0	194	-		Renal(207;0.0474)						Q9BW44|Q9NUV5	Translation_Start_Site	SNP	ENST00000373972.1	37			.	.	.	.	.	.	.	.	.	.	C	10.82	1.458692	0.26248	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000519905	.	.	.	5.07	1.49	0.22878	.	0.987279	0.08278	N	0.970320	T	0.31327	0.0793	L	0.42581	1.335	0.21822	N	0.999529	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.001	T	0.27502	-1.0072	9	0.29301	T	0.29	-9.0408	3.9196	0.09237	0.1477:0.239:0.0:0.6133	.	66;58;66;48;58	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	N	58;58;66;66;44;58;58;44	.	ENSP00000273075:S58N	S	-	2	0	DNPEP	219959904	0.318000	0.24598	0.993000	0.49108	0.593000	0.36681	-0.213000	0.09305	0.020000	0.15106	-0.367000	0.07326	AGT		0.587	DNPEP-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000130216.2	NM_012100		16	79	16	79	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38139333	38139333	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2662-2664)caG>caA		deleted in lung and esophageal cancer 1							58.0	65.0	63.0					3																	38139333		2143	4260	6403	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139333G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2664G>A	3.37:g.38139333G>A			Somatic				DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q	p.Q888Q			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2685	+			888						Silent	SNP	ENST00000308059.6	37	c.2664G>A	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	76	3	76	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	rs200384323		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.001	False		,,,				2504	0.0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	155.0	151.0		1529,1349	3.5	1.0	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His		Somatic				UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	WXS	Illumina GAIIx	Phase_I	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		9	250	9	250	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1651-1653)gAg>gCg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							90.0	80.0	83.0					3																	196735710		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735710T>G		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1652A>C	3.37:g.196735710T>G	ENSP00000296350:p.Glu551Ala		Somatic					p.E551A	NM_005929.5	NP_005920.2	WXS	Illumina GAIIx	Phase_I	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1765	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		551			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1652A>C	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069149	0.76301	.	.	ENSG00000163975	ENST00000296350	T	0.38240	1.15	4.96	4.96	0.65561	.	0.051772	0.85682	D	0.000000	T	0.65059	0.2655	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.87932	D	0	-42.6798	13.4985	0.61440	0.0:0.0:0.0:1.0	.	551	P08582	TRFM_HUMAN	A	551	ENSP00000296350:E551A	ENSP00000296350:E551A	E	-	2	0	MFI2	198220107	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.797000	0.85911	1.852000	0.53769	0.455000	0.32223	GAG		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	77	6	77	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33947262	33947262	+	Intron	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000296589.4	-	6	1515				SLC45A2_ENST00000382102.3_Silent_p.C458C|SLC45A2_ENST00000342059.3_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1372-1374)tgC>tgT		solute carrier family 45, member 2							212.0	202.0	205.0					5																	33947262		2203	4300	6503	SO:0001627	intron_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947262G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1368+5C>T	5.37:g.33947262G>A			Somatic				SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	p.C458C	NM_001012509.2	NP_001012527	WXS	Illumina GAIIx	Phase_I	Q9UMX9	S45A2_HUMAN			6	1431	-			0					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1374C>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		4	262	4	262	---	---	---	---
CCL28	56477	broad.mit.edu	37	5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(301-303)aGg>aTg		chemokine (C-C motif) ligand 28							306.0	255.0	272.0					5																	43382044		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382044C>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.302G>T	5.37:g.43382044C>A	ENSP00000354416:p.Arg101Met		Somatic				CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	p.R101M	NM_148672.2	NP_683513.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ3	CCL28_HUMAN			3	376	-			101					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.302G>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438112	0.25900	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.03920	3.76;3.76	5.07	-0.0534	0.13818	Chemokine interleukin-8-like domain (1);	0.780947	0.11589	N	0.548949	T	0.02571	0.0078	N	0.14661	0.345	0.36218	D	0.851837	B	0.11235	0.004	B	0.08055	0.003	T	0.42413	-0.9453	10	0.72032	D	0.01	0.0532	0.3881	0.00406	0.1899:0.2086:0.1741:0.4273	.	101	Q9NRJ3	CCL28_HUMAN	M	101;54	ENSP00000354416:R101M;ENSP00000422369:R54M	ENSP00000354416:R101M	R	-	2	0	CCL28	43417801	0.032000	0.19561	0.131000	0.22000	0.404000	0.30871	-0.031000	0.12287	-0.145000	0.11294	-0.302000	0.09304	AGG		0.443	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		5	175	5	175	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	696					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2086-2088)tCg>tTg									85.0	95.0	92.0					5																	140605164		2199	4295	6494	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605164C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2087C>T	5.37:g.140605164C>T	ENSP00000239449:p.Ser696Leu		Somatic				PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	p.S696L	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2087	+			696					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2087C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839050	0.51057	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.07114	3.22;3.22	4.17	4.17	0.49024	.	.	.	.	.	T	0.12860	0.0312	M	0.77820	2.39	0.09310	N	1	B	0.28208	0.203	B	0.20184	0.028	T	0.08289	-1.0729	9	0.87932	D	0	.	10.2954	0.43620	0.0:0.9058:0.0:0.0942	.	696	Q9Y5E9	PCDBE_HUMAN	L	543;696	ENSP00000444518:S543L;ENSP00000239449:S696L	ENSP00000239449:S696L	S	+	2	0	PCDHB14	140585348	0.000000	0.05858	0.059000	0.19551	0.051000	0.14879	-0.789000	0.04609	2.022000	0.59522	0.650000	0.86243	TCG		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	203	4	203	---	---	---	---
MAK	4117	broad.mit.edu	37	6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	MAK_ENST00000538030.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1438-1440)tAc>tGc		male germ cell-associated kinase							137.0	129.0	132.0					6																	10784683		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10784683T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1439A>G	6.37:g.10784683T>C	ENSP00000313021:p.Tyr480Cys		Somatic				RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C	p.Y480C			WXS	Illumina GAIIx	Phase_I	P20794	MAK_HUMAN			11	1821	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	480					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1439A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735008	0.69189	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90409	0.4408	10	0.87932	D	0	.	12.9447	0.58365	0.0:0.0:0.0:1.0	.	480	P20794	MAK_HUMAN	C	480	ENSP00000313021:Y480C;ENSP00000346484:Y480C	ENSP00000313021:Y480C	Y	-	2	0	MAK	10892669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.956000	0.63645	1.889000	0.54706	0.460000	0.39030	TAC		0.418	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		6	84	6	84	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(952-954)atA>atC		monooxygenase, DBH-like 1							86.0	88.0	87.0					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645229T>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>C	6.37:g.132645229T>G			Somatic				MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	p.I318I	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1072	-	Breast(56;0.0495)		318					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.954A>C	CCDS5152.2																																																																																				0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		5	65	5	65	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3973-3975)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							138.0	135.0	136.0					8																	55540415		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540415G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3973G>A	8.37:g.55540415G>A	ENSP00000220676:p.Gly1325Arg		Somatic					p.G1325R	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4121	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1325						Missense_Mutation	SNP	ENST00000220676.1	37	c.3973G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787448	0.02907	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.89	1.05	0.20165	.	1.942090	0.02329	N	0.073714	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20974	-1.0259	10	0.25751	T	0.34	.	4.642	0.12555	0.3276:0.0:0.5139:0.1585	.	1325	P56715	RP1_HUMAN	R	1325	ENSP00000220676:G1325R	ENSP00000220676:G1325R	G	+	1	0	RP1	55702968	0.000000	0.05858	0.002000	0.10522	0.134000	0.20937	-0.169000	0.09911	0.248000	0.21435	0.655000	0.94253	GGA		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	108	26	108	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:100132347C>T	ENST00000357054.1	+	44	5235	c.4300C>T	c.(4300-4302)Cgg>Tgg	p.R1434W	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1489W|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1434						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACAGCAGAAGCGGCTGGAGAA	0.542																																						ENST00000375202.2																			0											c.(4465-4467)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	38.0	43.0	41.0		4465	1.1	0.0	9	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf174	NM_020893.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1489/1702	100132347	2,13004	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132347C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4300C>T	9.37:g.100132347C>T	ENSP00000349562:p.Arg1434Trp		Somatic				RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W	p.R1489W			WXS	Illumina GAIIx	Phase_I					46	5817	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4465C>T		.	.	.	.	.	.	.	.	.	.	C	5.904	0.350950	0.11182	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.47177	0.85;0.85;0.85	5.31	1.13	0.20643	.	0.874621	0.10119	N	0.713615	T	0.29389	0.0732	N	0.19112	0.55	0.09310	N	1	B;B	0.30104	0.029;0.268	B;B	0.16289	0.005;0.015	T	0.13229	-1.0517	10	0.66056	D	0.02	-4.2502	8.6457	0.34005	0.4625:0.3996:0.1378:0.0	.	1628;1434	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	W	1434;1489;1489	ENSP00000349562:R1434W;ENSP00000364348:R1489W;ENSP00000434727:R1489W	ENSP00000349562:R1434W	R	+	1	2	C9orf174	99172168	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.649000	0.05384	0.008000	0.14787	-0.169000	0.13324	CGG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	29	4	29	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACACTAAAGAAAATGAGAG	0.378																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(664-666)aaG>aaT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						115.0	118.0	117.0					10																	26513522		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513522G>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.666G>T	10.37:g.26513522G>T	ENSP00000365437:p.Lys222Asn		Somatic				GAD2_ENST00000259271.3_Missense_Mutation_p.K222N|GAD2_ENST00000376248.1_Missense_Mutation_p.K108N	p.K222N	NM_001134366.1	NP_001127838.1	WXS	Illumina GAIIx	Phase_I	Q05329	DCE2_HUMAN			6	1169	+			222					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.666G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992243	0.54041	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	T;T;T	0.35421	1.31;1.31;1.31	5.21	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.246394	0.46758	D	0.000264	T	0.40645	0.1125	M	0.71920	2.185	0.80722	D	1	B	0.19706	0.038	B	0.24006	0.05	T	0.34527	-0.9825	10	0.52906	T	0.07	-19.4394	13.9159	0.63897	0.0735:0.0:0.9265:0.0	.	222	Q05329	DCE2_HUMAN	N	222;222;108	ENSP00000365437:K222N;ENSP00000259271:K222N;ENSP00000365424:K108N	ENSP00000259271:K222N	K	+	3	2	GAD2	26553528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.650000	0.61440	1.206000	0.43276	0.655000	0.94253	AAG		0.378	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	120	5	120	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1276-1278)Gag>Aag		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							196.0	178.0	184.0					10																	53458034		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458034C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1276G>A	10.37:g.53458034C>T	ENSP00000332444:p.Glu426Lys		Somatic				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E426K	NM_015235.2	NP_056050.1	WXS	Illumina GAIIx	Phase_I	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1321	-			426			9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1276G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749004	0.30955	.	.	ENSG00000177613	ENST00000331173	T	0.20332	2.08	5.22	3.33	0.38152	.	0.817969	0.11031	N	0.607176	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.24006	0.05	T	0.27739	-1.0065	10	0.24483	T	0.36	-2.3009	8.8354	0.35109	0.0:0.7594:0.1554:0.0852	.	426	Q9H0L4	CSTFT_HUMAN	K	426	ENSP00000332444:E426K	ENSP00000332444:E426K	E	-	1	0	CSTF2T	53128040	0.009000	0.17119	0.106000	0.21319	0.938000	0.57974	0.873000	0.28052	1.537000	0.49254	0.655000	0.94253	GAG		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		8	90	8	90	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74904264	74904264	+	Splice_Site	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCCCACAGTCTTCCCCAGGG	0.617																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1075-1077)gtC>gtA		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						68.0	67.0	68.0					11																	74904264		2200	4293	6493	SO:0001630	splice_region_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904264C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1076-1C>A	11.37:g.74904264C>A			Somatic				SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V	p.V359V	NM_007256.4	NP_009187	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			9	1472	+			359					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Splice_Site	SNP	ENST00000289575.5	37	c.1077C>A	CCDS8235.1																																																																																				0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Silent	5	120	5	120	---	---	---	---
PRKAG1	5571	broad.mit.edu	37	12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTCATAGATCTGTACCTGAA	0.423																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(313-315)caG>caT		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							134.0	133.0	133.0					12																	49398943		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49398943C>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.315G>T	12.37:g.49398943C>A	ENSP00000447433:p.Gln105His		Somatic				RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA	p.Q105H			WXS	Illumina GAIIx	Phase_I	P54619	AAKG1_HUMAN			6	771	-			105					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.315G>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556501	0.45487	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605	D;D;D;D;D;D;D;D;D;D;D;T	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;0.48	6.07	3.21	0.36854	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	M	0.83603	2.65	0.50171	D	0.99985	B;B;B	0.32876	0.348;0.388;0.098	B;B;B	0.29524	0.103;0.048;0.019	D	0.85956	0.1467	10	0.66056	D	0.02	-13.834	9.7338	0.40376	0.0:0.7651:0.0:0.2349	.	105;114;105	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	H	21;54;114;105;73;80;54;21;73;73;73;21	ENSP00000378599:Q21H;ENSP00000448873:Q54H;ENSP00000323867:Q114H;ENSP00000447433:Q105H;ENSP00000448972:Q73H;ENSP00000449121:Q80H;ENSP00000447671:Q54H;ENSP00000450112:Q21H;ENSP00000449637:Q73H;ENSP00000448251:Q73H;ENSP00000448739:Q73H;ENSP00000449104:Q21H	ENSP00000323867:Q114H	Q	-	3	2	PRKAG1	47685210	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.343000	0.19944	0.411000	0.25702	0.655000	0.94253	CAG		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		5	118	5	118	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1045-1047)Ttt>Ctt		zinc finger, DHHC-type containing 17							228.0	215.0	219.0					12																	77222174		1812	4067	5879	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222174T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1045T>C	12.37:g.77222174T>C	ENSP00000403397:p.Phe349Leu		Somatic				ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	p.F349L	NM_015336.2	NP_056151.2	WXS	Illumina GAIIx	Phase_I	Q8IUH5	ZDH17_HUMAN			10	1694	+			349					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1045T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440855	0.25900	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	.	0.143078	0.64402	D	0.000004	T	0.15478	0.0373	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09185	-1.0686	10	0.02654	T	1	-15.0086	16.0023	0.80306	0.0:0.0:0.0:1.0	.	349	Q8IUH5	ZDH17_HUMAN	L	349	ENSP00000403397:F349L;ENSP00000334868:F349L	ENSP00000334868:F349L	F	+	1	0	ZDHHC17	75746305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.255000	0.72466	2.177000	0.69029	0.533000	0.62120	TTT		0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	197	3	197	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100613237	100613237	+	IGR	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D|DEGS2_ENST00000305631.5_Missense_Mutation_p.K278T			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGGCGCGATCTTCCGCACCTG	0.657																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(832-834)aAg>aCg		delta(4)-desaturase, sphingolipid 2							76.0	77.0	77.0					14																	100613237		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613237T>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613237T>G			Somatic				DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	p.K278T	NM_206918.2	NP_996801.2	WXS	Illumina GAIIx	Phase_I	Q6QHC5	DEGS2_HUMAN			3	1408	-		Melanoma(154;0.212)	278					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.833A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.044297|4.044297	0.75732|0.75732	.|.	.|.	ENSG00000168350|ENSG00000168350	ENST00000553834|ENST00000305631	T|T	0.47869|0.18016	0.83|2.24	4.86|4.86	3.68|3.68	0.42216|0.42216	.|Fatty acid desaturase, type 1 (1);	.|0.316615	.|0.36303	.|N	.|0.002674	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.36354	.|0.549	.|B	.|0.34038	.|0.174	T|T	0.17868|0.17868	-1.0355|-1.0355	6|10	.|0.72032	.|D	.|0.01	-14.7995|-14.7995	11.0019|11.0019	0.47611|0.47611	0.1395:0.0:0.0:0.8605|0.1395:0.0:0.0:0.8605	.|.	.|278	.|Q6QHC5	.|DEGS2_HUMAN	D|T	30|278	ENSP00000450637:E30D|ENSP00000307126:K278T	.|ENSP00000307126:K278T	E|K	-|-	3|2	2|0	DEGS2|DEGS2	99682990|99682990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	3.236000|3.236000	0.51336|0.51336	0.675000|0.675000	0.31264|0.31264	0.459000|0.459000	0.35465|0.35465	GAA|AAG		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			7	87	7	87	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42147470	42147470	+	Silent	SNP	C	C	T	rs374155015		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		16441	0.001		0.0	False		,,,				2504	0.0					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9373-9375)gcG>gcA		spectrin, beta, non-erythrocytic 5		C		1,4035		0,1,2017	20.0	25.0	23.0		9270	3.4	0.0	15		23	4,8298		0,4,4147	no	coding-synonymous	SPTBN5	NM_016642.2		0,5,6164	TT,TC,CC		0.0482,0.0248,0.0405		3090/3640	42147470	5,12333	2018	4151	6169	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147470C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9375G>A	15.37:g.42147470C>T			Somatic					p.A3125A	NM_016642.2	NP_057726.4	WXS	Illumina GAIIx	Phase_I	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9602	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3125						Silent	SNP	ENST00000320955.6	37	c.9375G>A																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	44	3	44	---	---	---	---
C15orf26	161502	broad.mit.edu	37	15	81427611	81427611	+	Splice_Site	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(70-72)Gag>Tag		chromosome 15 open reading frame 26							65.0	68.0	67.0					15																	81427611		1793	4066	5859	SO:0001630	splice_region_variant	161502							g.chr15:81427611G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427611G>T			Somatic					p.E24*	NM_173528.2	NP_775799.2	WXS	Illumina GAIIx	Phase_I	Q6P656	CO026_HUMAN			2	153	+			24					Q8N906	Splice_Site	SNP	ENST00000286732.4	37	c.70G>T	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378427	0.82682	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	0.115341	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.5488	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	.	E	+	1	0	C15orf26	79214666	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	GAG		0.338	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Nonsense_Mutation	5	53	5	53	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000561243.1	+	11	2804	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000439576.2_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D			P16112	PGCA_HUMAN	aggrecan	934	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2803-2805)gGt>gAt		aggrecan							53.0	58.0	56.0					15																	89398620		1912	4128	6040	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398620G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2804G>A	15.37:g.89398620G>A	ENSP00000453342:p.Gly935Asp		Somatic				ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D	p.G935D	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3178	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		935					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2804G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408729	0.04799	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94828	-3.53;-3.53	4.49	0.384	0.16244	.	.	.	.	.	D	0.85141	0.5629	N	0.14661	0.345	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.25614	0.042;0.062	T	0.72023	-0.4415	9	0.16420	T	0.52	-1.3272	3.5856	0.07970	0.4144:0.0:0.4014:0.1841	.	935;935	E7ENV9;E7EX88	.;.	D	935	ENSP00000387356:G935D;ENSP00000341615:G935D	ENSP00000268134:G935D	G	+	2	0	ACAN	87199624	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.077000	0.14738	-0.022000	0.13986	0.563000	0.77884	GGT		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	34	4	34	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926769	22926769	+	Silent	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(988-990)aaA>aaG		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							141.0	155.0	150.0					16																	22926769		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926769A>G	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.990A>G	16.37:g.22926769A>G			Somatic					p.K330K	NM_006043.1	NP_006034.1	WXS	Illumina GAIIx	Phase_I	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1424	+			330					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.990A>G	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	A	8.192	0.796126	0.16327	.	.	ENSG00000122254	ENST00000540146	.	.	.	5.2	1.73	0.24493	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16247	-1.0409	5	0.02654	T	1	.	8.3589	0.32346	0.5606:0.0:0.4394:0.0	.	.	.	.	G	338	.	ENSP00000437678:R338G	R	+	1	2	HS3ST2	22834270	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	0.892000	0.28322	0.022000	0.15160	-0.379000	0.06801	AGG		0.418	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		4	201	4	201	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57088675	57088675	+	Silent	SNP	G	G	A	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000262510.6	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000436936.1_Silent_p.T1173T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)acG>acA		NLR family, CARD domain containing 5		G		1,4395	2.1+/-5.4	0,1,2197	195.0	204.0	201.0		3519	-9.8	0.0	16	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRC5	NM_032206.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1173/1867	57088675	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088675G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3519G>A	16.37:g.57088675G>A			Somatic				NLRC5_ENST00000308149.7_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T	p.T1173T			WXS	Illumina GAIIx	Phase_I	Q86WI3	NLRC5_HUMAN			25	3744	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3519G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125202	0.06795	2.27E-4	1.16E-4	ENSG00000140853	ENST00000538805	.	.	.	4.88	-9.77	0.00500	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10474	-1.0628	4	.	.	.	.	3.2921	0.06953	0.5325:0.181:0.1144:0.1721	.	.	.	.	R	926	.	.	G	+	1	0	NLRC5	55646176	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.067000	0.01383	-2.711000	0.00393	-0.252000	0.11476	GGG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	410	5	410	---	---	---	---
GINS3	64785	broad.mit.edu	37	16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(403-405)Tcc>Ccc		GINS complex subunit 3 (Psf3 homolog)							53.0	46.0	48.0					16																	58437218		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58437218T>C	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.403T>C	16.37:g.58437218T>C	ENSP00000318196:p.Ser135Pro		Somatic				GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	p.S135P	NM_022770.3	NP_073607.2	WXS	Illumina GAIIx	Phase_I	Q9BRX5	PSF3_HUMAN			2	611	+			135					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.403T>C	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269742	0.80469	.	.	ENSG00000181938	ENST00000426538;ENST00000318129	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.098090	0.64402	D	0.000002	T	0.25644	0.0624	L	0.33485	1.01	0.47276	D	0.999377	D;P	0.54601	0.967;0.948	P;P	0.58266	0.836;0.634	T	0.00961	-1.1499	10	0.59425	D	0.04	-4.0006	11.3464	0.49563	0.0:0.0:0.2484:0.7516	.	174;135	E9PB21;Q9BRX5	.;PSF3_HUMAN	P	174;135	ENSP00000401018:S174P;ENSP00000318196:S135P	ENSP00000318196:S135P	S	+	1	0	GINS3	56994719	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.475000	0.73582	2.367000	0.80283	0.528000	0.53228	TCC		0.517	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		11	29	11	29	---	---	---	---
MRPS23	51649	broad.mit.edu	37	17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(496-498)gaG>gaT		mitochondrial ribosomal protein S23							186.0	151.0	163.0					17																	55917219		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917219C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.498G>T	17.37:g.55917219C>A	ENSP00000320184:p.Glu166Asp		Somatic					p.E166D	NM_016070.3	NP_057154.2	WXS	Illumina GAIIx	Phase_I	Q9Y3D9	RT23_HUMAN			5	543	-	Breast(9;8.75e-08)		166					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.498G>T	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074052	0.36566	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	3.85	0.44370	.	0.227419	0.46442	N	0.000283	T	0.16981	0.0408	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	9	0.20519	T	0.43	.	8.8624	0.35265	0.0:0.7696:0.1486:0.0819	.	166	Q9Y3D9	RT23_HUMAN	D	166	.	ENSP00000320184:E166D	E	-	3	2	MRPS23	53272218	0.004000	0.15560	0.034000	0.17996	0.016000	0.09150	0.877000	0.28106	1.463000	0.47967	0.655000	0.94253	GAG		0.488	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		5	74	5	74	---	---	---	---
TCF3	6929	broad.mit.edu	37	19	1615477	1615477	+	Silent	SNP	C	C	T	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1627-1629)aaG>aaA		transcription factor 3							37.0	42.0	40.0					19																	1615477		2200	4298	6498	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615477C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1629G>A	19.37:g.1615477C>T			Somatic				TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.K543K	NM_003200.3	NP_003191.1	WXS	Illumina GAIIx	Phase_I	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	1973	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	543					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.1629G>A	CCDS12074.1																																																																																				0.687	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		28	73	28	73	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.G637S(1)	large_intestine(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1909-1911)Ggc>Agc		zinc finger protein 536							82.0	94.0	90.0					19																	30936378		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936378G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser		Somatic					p.G637S	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			2	2056	+	Esophageal squamous(110;0.0834)		637					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1909G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	173	4	173	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38858384	38858384	+	Silent	SNP	C	C	T	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2896-2898)gaC>gaT		catsper channel auxiliary subunit gamma		C		0,4406		0,0,2203	227.0	238.0	234.0		2898	-3.5	0.3	19	dbSNP_100	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		966/1160	38858384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858384C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2898C>T	19.37:g.38858384C>T			Somatic				CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D	p.D966D	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	Q6ZRH7	CTSRG_HUMAN			25	3013	+			966					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2898C>T	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		27	388	27	388	---	---	---	---
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(499-501)tgC>tgT		cyclin N-terminal domain containing 2							178.0	196.0	190.0					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730407G>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A			Somatic				CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C	p.C167C	NM_024877.3	NP_079153.2	WXS	Illumina GAIIx	Phase_I	B4DX65	B4DX65_HUMAN			3	549	-			167					B4DX65	Silent	SNP	ENST00000430325.2	37	c.501C>T	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		9	486	9	486	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.6_ENST00000437060.1_RNA|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs			Q9H790	EXO5_HUMAN	exonuclease 5	149					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AAGTTTCTGAACATACTTTTGC	0.46																																						ENST00000372703.1																			0											c.(445-447)aacfs		exonuclease 5																																				SO:0001589	frameshift_variant	64789							g.chr1:40980662_40980663delAC	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.446_447delAC	1.37:g.40980662_40980663delAC	ENSP00000361788:p.Asn149fs		Somatic				EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs	p.N149fs			WXS	Illumina GAIIx	Phase_I					2	1520_1521	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	c.446_447delAC	CCDS453.1																																																																																				0.460	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		7	102	7	102	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000539276.2	+	12	1641_1642	c.1532_1533insG	c.(1531-1536)atgtttfs	p.F512fs	ATP2A2_ENST00000395494.2_Frame_Shift_Ins_p.F485fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1450-1455)atgtttfs		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2																																				SO:0001589	frameshift_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777198_110777199insG		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1533dupG	12.37:g.110777199_110777199dupG	ENSP00000440045:p.Phe512fs		Somatic				ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.F512fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs	p.F485fs			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			11	2014_2015	+			512					A6NDN7|B4DF05|P16614|Q86VJ2	Frame_Shift_Ins	INS	ENST00000539276.2	37	c.1451_1452insG	CCDS9144.1																																																																																				0.381	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		18	60	18	60	---	---	---	---
