#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PTGFR	5737	broad.mit.edu	37	1	78958508	78958508	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr1:78958508G>A	ENST00000370757.3	+	2	317	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	PTGFR_ENST00000370758.1_Missense_Mutation_p.R27Q|PTGFR_ENST00000370756.3_Missense_Mutation_p.R27Q	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	27					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACGGAAAACCGGCTTTCCGTA	0.438																																						uc001din.2		NaN																	0				ovary(3)|breast(2)|skin(1)	6						c.(79-81)CGG>CAG		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						77.0	81.0	80.0					1																	78958508		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958508G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.80G>A	1.37:g.78958508G>A	ENSP00000359793:p.Arg27Gln					PTGFR_uc001dim.2_Missense_Mutation_p.R27Q	p.R27Q	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	346	+			27			Extracellular (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.80G>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620112	0.14193	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.36878	1.23;1.23;1.23	5.55	3.52	0.40303	.	0.566029	0.18235	N	0.147453	T	0.06188	0.0160	L	0.36672	1.1	0.32156	N	0.58358	B;P	0.41080	0.426;0.737	B;B	0.24006	0.015;0.05	T	0.21759	-1.0236	10	0.13470	T	0.59	-0.9584	4.4571	0.11649	0.2929:0.1667:0.5404:0.0	.	27;27	P43088;P43088-2	PF2R_HUMAN;.	Q	27	ENSP00000359794:R27Q;ENSP00000359793:R27Q;ENSP00000359792:R27Q	ENSP00000359792:R27Q	R	+	2	0	PTGFR	78731096	0.993000	0.37304	0.989000	0.46669	0.604000	0.37047	2.268000	0.43338	0.690000	0.31570	0.655000	0.94253	CGG		0.438	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1		NM_000959		5	54	0	0	0	0.001168	0	5	54		
NBPF14	25832	broad.mit.edu	37	1	148015635	148015635	+	Silent	SNP	A	A	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr1:148015635A>C	ENST00000369219.1	-	8	1012	c.996T>G	c.(994-996)gtT>gtG	p.V332V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	332	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATCCATGTTAACAGCCAAGC	0.468																																						uc001eqq.2		NaN																	0				ovary(1)	1						c.(994-996)GTT>GTG		hypothetical protein LOC25832							4.0	3.0	4.0					1																	148015635		713	1608	2321	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148015635A>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.996T>G	1.37:g.148015635A>C						LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.V211V	p.V332V	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			8	1013	-	all_hematologic(923;0.032)		332			NBPF 3.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.996T>G		.	.	.	.	.	.	.	.	.	.	-	1.155	-0.645530	0.03531	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	338;343;343;343;343;343;343;343	.	.	L	-	2	0	NBPF14	146482259	0.426000	0.25506	0.001000	0.08648	0.000000	0.00434	0.730000	0.26043	-1.044000	0.03254	0.000000	0.15137	TTA		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_015383		2	3	0	0	0	0.004672	0	2	3		
ANKRD2	26287	broad.mit.edu	37	10	99338106	99338106	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr10:99338106G>A	ENST00000307518.5	+	3	647	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ANKRD2_ENST00000370655.1_Missense_Mutation_p.R100Q|ANKRD2_ENST00000298808.5_Missense_Mutation_p.R127Q|ANKRD2_ENST00000455090.1_Missense_Mutation_p.R100Q			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	127					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CAGAAGAAGCGGGACGCTCTG	0.687																																						uc001knw.2		NaN																	0					0						c.(379-381)CGG>CAG		ankyrin repeat domain 2 isoform a							29.0	30.0	30.0					10																	99338106		2203	4300	6503	SO:0001583	missense	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99338106G>A	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.380G>A	10.37:g.99338106G>A	ENSP00000306163:p.Arg127Gln					ANKRD2_uc009xvu.2_Missense_Mutation_p.R127Q	p.R127Q	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	3	589	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	127					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	c.380G>A	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609287	0.87258	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.53206	0.88;0.65;0.85;0.63	5.35	5.35	0.76521	.	0.087685	0.46758	D	0.000277	T	0.32436	0.0829	L	0.29908	0.895	0.29235	N	0.873025	D;D	0.57899	0.981;0.961	B;B	0.41412	0.356;0.325	T	0.22034	-1.0228	10	0.22109	T	0.4	-28.1683	9.465	0.38806	0.1598:0.0:0.8402:0.0	.	127;127	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	Q	127;127;100;100	ENSP00000306163:R127Q;ENSP00000298808:R127Q;ENSP00000359689:R100Q;ENSP00000403114:R100Q	ENSP00000298808:R127Q	R	+	2	0	ANKRD2	99328096	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	3.219000	0.51200	2.491000	0.84063	0.491000	0.48974	CGG		0.687	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					9	60	0	0	0	0.008291	0	9	60		
PNLIP	5406	broad.mit.edu	37	10	118314751	118314751	+	Silent	SNP	C	C	T	rs200786882		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr10:118314751C>T	ENST00000369221.2	+	7	661	c.633C>T	c.(631-633)agC>agT	p.S211S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	211					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGGACCCCAGCGATGCCAAAT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18338	0.001		0.0	False		,,,				2504	0.0					uc001lcm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(631-633)AGC>AGT		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)	C		0,4406		0,0,2203	87.0	80.0	82.0		633	-7.9	0.0	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNLIP	NM_000936.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		211/466	118314751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314751C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.633C>T	10.37:g.118314751C>T							p.S211S	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	676	+			211					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.633C>T	CCDS7594.1																																																																																				0.483	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936		14	56	0	0	0	0.00499	0	14	56		
ATG16L2	89849	broad.mit.edu	37	11	72536397	72536397	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr11:72536397C>A	ENST00000321297.5	+	10	1185	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	349					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCAACAGCAGCCTCCTGGCCA	0.627																																						uc001otd.2		NaN																	0					0						c.(1045-1047)AGC>AGA		ATG16 autophagy related 16-like 2							83.0	76.0	79.0					11																	72536397		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72536397C>A	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1047C>A	11.37:g.72536397C>A	ENSP00000326340:p.Ser349Arg					ATG16L2_uc001ote.2_Missense_Mutation_p.S243R|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.S104R|ATG16L2_uc001otg.2_Missense_Mutation_p.S83R|ATG16L2_uc009ytk.2_Missense_Mutation_p.S104R	p.S349R	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		10	1087	+			349			WD 1.		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1047C>A	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.468|5.468	0.271409|0.271409	0.10349|0.10349	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000535830;ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.60040	.|0.22;0.22;0.22	5.16|5.16	3.29|3.29	0.37713|0.37713	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.657771	.|0.15230	.|N	.|0.273467	T|T	0.24044|0.24044	0.0582|0.0582	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.42203	.|0.773;0.049;0.001	.|B;B;B	.|0.40534	.|0.332;0.059;0.007	T|T	0.36792|0.36792	-0.9733|-0.9733	5|10	.|0.02654	.|T	.|1	.|.	4.813|4.813	0.13353|0.13353	0.0:0.6326:0.1786:0.1887|0.0:0.6326:0.1786:0.1887	.|.	.|243;69;349	.|Q8NAA4-2;Q9H7Q5;Q8NAA4	.|.;.;A16L2_HUMAN	T|R	187;127|349;180;180	.|ENSP00000326340:S349R;ENSP00000441989:S180R;ENSP00000437412:S180R	.|ENSP00000326340:S349R	P|S	+|+	1|3	0|2	ATG16L2|ATG16L2	72214045|72214045	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.578000|0.578000	0.23773|0.23773	1.187000|1.187000	0.43000|0.43000	0.561000|0.561000	0.74099|0.74099	CCT|AGC		0.627	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1		NM_033388		39	84	1	0	1.39924e-13	0.01441	1.57863e-13	39	84		
RFX4	5992	broad.mit.edu	37	12	107155161	107155161	+	Missense_Mutation	SNP	C	C	T	rs563415881		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr12:107155161C>T	ENST00000392842.1	+	18	2536	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.R717C|RFX4_ENST00000229387.5_Missense_Mutation_p.R614C	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	708					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCTGACAACGCGCAGGAATTC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14272	0.0		0.0	False		,,,				2504	0.0					uc001tlr.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2122-2124)CGC>TGC		regulatory factor X4 isoform c							102.0	92.0	95.0					12																	107155161		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107155161C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.2122C>T	12.37:g.107155161C>T	ENSP00000376585:p.Arg708Cys					RFX4_uc001tlt.2_Missense_Mutation_p.R717C|RFX4_uc001tlv.2_Missense_Mutation_p.R614C	p.R708C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			18	2188	+			708					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.2122C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113045	0.77210	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.55588	0.51;0.51;0.51	5.69	5.69	0.88448	.	0.050754	0.85682	D	0.000000	T	0.62829	0.2460	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.973	T	0.66654	-0.5869	10	0.87932	D	0	-19.6103	19.8113	0.96547	0.0:1.0:0.0:0.0	.	614;717;708	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	C	708;717;614	ENSP00000376585:R708C;ENSP00000350552:R717C;ENSP00000229387:R614C	ENSP00000229387:R614C	R	+	1	0	RFX4	105679291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.690000	0.91761	0.655000	0.94253	CGC		0.512	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1		NM_032491		16	81	0	0	0	0.003163	0	16	81		
ZNF10	7556	broad.mit.edu	37	12	133732511	133732511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr12:133732511C>T	ENST00000248211.6	+	5	901	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.Q227*	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	227			Q -> R (in dbSNP:rs11147259).	Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCACCTTATTCAGTTTGCAAG	0.358																																						uc009zzb.2		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(679-681)CAG>TAG		zinc finger protein 10							112.0	103.0	106.0					12																	133732511		2203	4300	6503	SO:0001587	stop_gained	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732511C>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.679C>T	12.37:g.133732511C>T	ENSP00000248211:p.Gln227*					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Nonsense_Mutation_p.Q227*	p.Q227*	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1126	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	227	Missing (in Ref. 1).		C2H2-type 1; atypical.		B2RBS1|Q8TC91	Nonsense_Mutation	SNP	ENST00000248211.6	37	c.679C>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002293	0.93227	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	.	.	.	4.22	3.31	0.37934	.	0.000000	0.36234	N	0.002714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5885	0.33672	0.1728:0.6598:0.1674:0.0	.	.	.	.	X	227;227;185	.	.	Q	+	1	0	ZNF10	132242584	0.000000	0.05858	0.979000	0.43373	0.498000	0.33706	0.041000	0.13927	1.090000	0.41315	0.655000	0.94253	CAG		0.358	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1		NM_015394		13	73	0	0	0	0.00245	0	13	73		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2		NaN																	8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2				4	16	0	0	0	0.009096	0	4	16		
HSD11B2	3291	broad.mit.edu	37	16	67470804	67470804	+	Silent	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:67470804G>A	ENST00000326152.5	+	5	1248	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	372					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		GTCACTGTCTGCCTCGAGCAC	0.662																																						uc002etd.2		NaN																	0					0						c.(1114-1116)CTG>CTA		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						61.0	65.0	64.0					16																	67470804		2198	4300	6498	SO:0001819	synonymous_variant	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470804G>A	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.1116G>A	16.37:g.67470804G>A							p.L372L	NM_000196	NP_000187	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1232	+		Ovarian(137;0.0563)	372					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	ENST00000326152.5	37	c.1116G>A	CCDS10837.1																																																																																				0.662	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3		NM_000196		49	134	0	0	0	0.01441	0	49	134		
KLHDC4	54758	broad.mit.edu	37	16	87743024	87743024	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:87743024G>A	ENST00000270583.5	-	10	1352	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R375C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R401C	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	432										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCGTTGGAGCGTGGACACGGC	0.682																																						uc002fki.2		NaN																	0				pancreas(2)	2						c.(1294-1296)CGC>TGC		kelch domain containing 4							68.0	70.0	69.0					16																	87743024		2198	4299	6497	SO:0001583	missense	54758							g.chr16:87743024G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1294C>T	16.37:g.87743024G>A	ENSP00000270583:p.Arg432Cys					KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.R401C|KLHDC4_uc002fkk.2_Missense_Mutation_p.R251C|KLHDC4_uc002fkl.2_Missense_Mutation_p.R375C|KLHDC4_uc010chu.1_Missense_Mutation_p.R251C	p.R432C	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	10	1340	-			432					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.1294C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739734	0.49045	.	.	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.74632	-0.86;-0.86;-0.86	5.27	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90193	0.4251	10	0.87932	D	0	-11.5363	12.8061	0.57614	0.0789:0.0:0.9211:0.0	.	375;401;432	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	C	432;401;375	ENSP00000270583:R432C;ENSP00000325717:R401C;ENSP00000262530:R375C	ENSP00000270583:R432C	R	-	1	0	KLHDC4	86300525	1.000000	0.71417	0.782000	0.31804	0.043000	0.13939	5.529000	0.67135	1.229000	0.43630	0.313000	0.20887	CGC		0.682	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2		NM_017566		42	137	0	0	0	0.01441	0	42	137		
KDM6B	23135	broad.mit.edu	37	17	7751016	7751016	+	Silent	SNP	A	A	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:7751016A>C	ENST00000448097.2	+	11	1741	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	KDM6B_ENST00000254846.5_Silent_p.P470P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	470	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						caccccctccacccccctgtc	0.687																																						uc002giw.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1408-1410)CCA>CCC		lysine (K)-specific demethylase 6B							4.0	5.0	5.0					17																	7751016		2098	4162	6260	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751016A>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1410A>C	17.37:g.7751016A>C						KDM6B_uc002gix.2_5'UTR	p.P470P	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	1786	+			470			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.1410A>C																																																																																					0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1		XM_043272		6	11	0	0	0	0.008291	0	6	11		
AXIN2	8313	broad.mit.edu	37	17	63532493	63532493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:63532493G>A	ENST00000375702.5	-	6	1999	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*	AXIN2_ENST00000307078.5_Nonsense_Mutation_p.Q696*			Q9Y2T1	AXIN2_HUMAN	axin 2	696				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TCCTCCAGCTGAGCCAGCGTG	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2086-2088)CAG>TAG		axin 2							21.0	22.0	22.0					17																	63532493		2203	4300	6503	SO:0001587	stop_gained	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532493G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1891C>T	17.37:g.63532493G>A	ENSP00000364854:p.Gln631*					AXIN2_uc002jfh.2_Nonsense_Mutation_p.Q631*	p.Q696*	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			8	2375	-			696	Q -> H (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Nonsense_Mutation	SNP	ENST00000375702.5	37	c.2086C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.762538	0.98943	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-33.4845	19.4276	0.94749	0.0:0.0:1.0:0.0	.	.	.	.	X	696;631	.	ENSP00000302625:Q696X	Q	-	1	0	AXIN2	60962955	1.000000	0.71417	0.960000	0.40013	0.986000	0.74619	9.238000	0.95380	2.574000	0.86865	0.650000	0.86243	CAG		0.667	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1		NM_004655		5	73	0	0	0	0.000602	0	5	73		
ATG4D	84971	broad.mit.edu	37	19	10664773	10664773	+	IGR	SNP	G	G	A	rs147727983		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:10664773G>A	ENST00000309469.4	+	0	1949				MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Missense_Mutation_p.R658W|KRI1_ENST00000312962.6_Missense_Mutation_p.R662W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAGCAGCCGTGCCTTCTTG	0.642																																						uc002moy.1		NaN																	0				ovary(1)	1						c.(1984-1986)CGG>TGG		KRI1 homolog		G	TRP/ARG	0,4404		0,0,2202	57.0	63.0	61.0		1984	0.6	0.2	19	dbSNP_134	61	2,8590		0,2,4294	no	missense	KRI1	NM_023008.3	101	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	662/710	10664773	2,12994	2202	4296	6498	SO:0001628	intergenic_variant	65095							g.chr19:10664773G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664773G>A						KRI1_uc002mow.1_Missense_Mutation_p.R281W|KRI1_uc002mox.1_Missense_Mutation_p.R658W	p.R662W	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		19	1993	-			662					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1984C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074458	0.55646	0.0	2.33E-4	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.11495	2.96;2.77	4.44	0.638	0.17742	.	0.629921	0.14252	N	0.331363	T	0.25044	0.0608	M	0.66939	2.045	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.03619	-1.1019	10	0.87932	D	0	-17.3253	8.3456	0.32270	0.0:0.1269:0.4512:0.4219	.	662;658	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	662;658	ENSP00000320917:R662W;ENSP00000355366:R658W	ENSP00000320917:R662W	R	-	1	2	KRI1	10525773	0.003000	0.15002	0.155000	0.22561	0.964000	0.63967	1.188000	0.32102	0.446000	0.26666	-0.182000	0.12963	CGG		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1		NM_032885		49	183	0	0	0	0.01441	0	49	183		
GATAD2A	54815	broad.mit.edu	37	19	19606680	19606680	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:19606680G>A	ENST00000360315.3	+	6	1054	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	GATAD2A_ENST00000404158.1_Missense_Mutation_p.V248I|GATAD2A_ENST00000358713.3_Missense_Mutation_p.V248I|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.V248I|GATAD2A_ENST00000429563.2_Missense_Mutation_p.V75I	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	248					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCCCCACTCGTCAGGGGGGC	0.672																																						uc010xqt.1		NaN																	0					0						c.(742-744)GTC>ATC		GATA zinc finger domain containing 2A							34.0	33.0	33.0					19																	19606680		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19606680G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.742G>A	19.37:g.19606680G>A	ENSP00000353463:p.Val248Ile					GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.V267I|GATAD2A_uc010xqw.1_Missense_Mutation_p.V75I	p.V248I	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			6	1054	+			248					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.742G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096152	0.76870	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.47528	1.36;1.36;1.36;0.84	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	L	0.48362	1.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.954;0.994;0.994	T	0.55835	-0.8078	10	0.27082	T	0.32	-19.7096	17.0838	0.86605	0.0:0.0:1.0:0.0	.	75;267;248	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	I	248;248;267;248;75	ENSP00000353463:V248I;ENSP00000252577:V248I;ENSP00000351552:V248I;ENSP00000388416:V75I	ENSP00000252577:V248I	V	+	1	0	GATAD2A	19467680	1.000000	0.71417	0.956000	0.39512	0.287000	0.27160	5.235000	0.65348	2.441000	0.82636	0.655000	0.94253	GTC		0.672	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4		NM_017660		17	56	0	0	0	0.012319	0	17	56		
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NaN																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		14	41	0	0	0	0.009535	0	14	41		
CDCA7	83879	broad.mit.edu	37	2	174223511	174223511	+	Silent	SNP	G	G	A	rs142079460		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr2:174223511G>A	ENST00000347703.3	+	2	237	c.93G>A	c.(91-93)tcG>tcA	p.S31S	CDCA7_ENST00000306721.3_Silent_p.S31S|CDCA7_ENST00000392567.2_Silent_p.S31S|AC092573.2_ENST00000437243.1_RNA|CDCA7_ENST00000410101.3_Silent_p.S31S|CDCA7_ENST00000410019.3_Intron	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	31					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGGAAACCTCGTCATCCTCTG	0.383																																						uc002uid.1		NaN																	0				ovary(1)	1						c.(91-93)TCG>TCA		cell division cycle associated 7 isoform 2		G	,	2,4404	4.2+/-10.8	0,2,2201	94.0	96.0	96.0		93,93	3.0	1.0	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDCA7	NM_031942.4,NM_145810.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	31/451,31/372	174223511	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174223511G>A	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.93G>A	2.37:g.174223511G>A						CDCA7_uc002uic.1_Silent_p.S31S|CDCA7_uc010zej.1_Silent_p.S31S|CDCA7_uc010zek.1_Intron	p.S31S	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		2	224	+			31					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	ENST00000347703.3	37	c.93G>A	CCDS2253.1																																																																																				0.383	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1		NM_031942		16	24	0	0	0	0.012319	0	16	24		
ZMYND8	23613	broad.mit.edu	37	20	45853033	45853033	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:45853033A>G	ENST00000311275.7	-	19	3386	c.3133T>C	c.(3133-3135)Tac>Cac	p.Y1045H	ZMYND8_ENST00000461685.1_Missense_Mutation_p.Y1019H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Y1065H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Y1072H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Y993H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Y936H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Y967H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Y999H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.Y913H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Y1045H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Y1019H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Y1045H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Y994H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1045					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGTCACAGTAGCTAGTGTTC	0.587																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3133-3135)TAC>CAC		zinc finger, MYND-type containing 8 isoform b							204.0	161.0	175.0					20																	45853033		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853033A>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3133T>C	20.37:g.45853033A>G	ENSP00000312237:p.Tyr1045His					ZMYND8_uc010ghq.1_Missense_Mutation_p.Y676H|ZMYND8_uc010ghr.1_Missense_Mutation_p.Y947H|ZMYND8_uc002xst.1_Missense_Mutation_p.Y927H|ZMYND8_uc002xsu.1_Missense_Mutation_p.Y918H|ZMYND8_uc002xsv.1_Missense_Mutation_p.Y973H|ZMYND8_uc002xsw.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsx.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsy.1_Missense_Mutation_p.Y974H|ZMYND8_uc002xsz.1_Missense_Mutation_p.Y936H|ZMYND8_uc010zxy.1_Missense_Mutation_p.Y1072H|ZMYND8_uc002xtb.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xss.2_Missense_Mutation_p.Y1045H|ZMYND8_uc010zxz.1_Missense_Mutation_p.Y913H|ZMYND8_uc002xtc.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xtd.1_Missense_Mutation_p.Y994H|ZMYND8_uc002xte.1_Missense_Mutation_p.Y999H|ZMYND8_uc010zya.1_Missense_Mutation_p.Y1045H|ZMYND8_uc002xtf.1_Missense_Mutation_p.Y1065H|ZMYND8_uc002xsr.1_Missense_Mutation_p.Y144H	p.Y1045H	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3387	-			1045			MYND-type.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3133T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.366447|4.366447	0.82463|0.82463	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Zinc finger, MYND-type (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80276|0.80276	0.4593|0.4593	M|M	0.94142|0.94142	3.5|3.5	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0	D|D	0.86220|0.86220	0.1630|0.1630	5|10	.|0.87932	.|D	.|0	-12.5791|-12.5791	15.543|15.543	0.76070|0.76070	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|913;1072;967;974;1065;999;994;1019;1019;1045;936;994;993;938;947;1045	.|B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	P|H	926|994;1045;913;1000;1066;1019;1045;1072;1045;936;1019;967;993	.|ENSP00000354166:Y994H;ENSP00000312237:Y1045H;ENSP00000392964:Y913H;ENSP00000335537:Y1019H;ENSP00000379577:Y1045H;ENSP00000439800:Y1072H;ENSP00000348246:Y1045H;ENSP00000396725:Y936H;ENSP00000418210:Y1019H;ENSP00000361093:Y967H;ENSP00000443086:Y993H	.|ENSP00000262975:Y1000H	L|Y	-|-	2|1	0|0	ZMYND8|ZMYND8	45286440|45286440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	9.277000|9.277000	0.95755|0.95755	2.060000|2.060000	0.61445|0.61445	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.587	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		50	202	0	0	0	0.01441	0	50	202		
DIDO1	11083	broad.mit.edu	37	20	61525841	61525841	+	Silent	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:61525841G>A	ENST00000266070.4	-	11	2821	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	DIDO1_ENST00000395340.1_Silent_p.V832V|DIDO1_ENST00000395335.2_Silent_p.V832V|DIDO1_ENST00000395343.1_Silent_p.V832V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	832					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTGCTGAAGACGTCGAGAA	0.498																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(2494-2496)GTC>GTT		death inducer-obliterator 1 isoform c							104.0	93.0	97.0					20																	61525841		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525841G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2496C>T	20.37:g.61525841G>A						DIDO1_uc002yds.1_Silent_p.V832V|DIDO1_uc002ydt.1_Silent_p.V832V|DIDO1_uc002ydu.1_Silent_p.V832V	p.V832V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			11	2760	-	Breast(26;5.68e-08)		832					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2496C>T	CCDS33506.1																																																																																				0.498	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		18	69	0	0	0	0.012319	0	18	69		
OPRL1	4987	broad.mit.edu	37	20	62730140	62730140	+	Silent	SNP	G	G	A	rs138878509		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:62730140G>A	ENST00000349451.3	+	6	1513	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	OPRL1_ENST00000355631.4_Silent_p.P367P|OPRL1_ENST00000336866.2_Silent_p.P367P	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	367					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGACGGTACCGCGGCCCGCAT	0.657																																						uc002yic.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1099-1101)CCG>CCA		opiate receptor-like 1			,,	0,4402		0,0,2201	42.0	38.0	39.0		1101,1101,1101	-9.4	0.1	20	dbSNP_134	39	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,	367/371,367/371,367/371	62730140	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730140G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1101G>A	20.37:g.62730140G>A						OPRL1_uc002yid.2_Silent_p.P367P|OPRL1_uc002yif.3_Silent_p.P362P	p.P367P	NM_182647	NP_872588	P41146	OPRX_HUMAN			5	1503	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		367			Cytoplasmic (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.1101G>A	CCDS13556.1																																																																																				0.657	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1		NM_182647		15	76	0	0	0	0.00499	0	15	76		
SMTN	6525	broad.mit.edu	37	22	31500334	31500334	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr22:31500334T>A	ENST00000347557.2	+	20	2854	c.2636T>A	c.(2635-2637)gTg>gAg	p.V879E	SMTN_ENST00000404574.1_3'UTR|SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.V902E	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	879	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTGGTGGAGGTGGACGACATG	0.632																																						uc003ajl.1		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(2635-2637)GTG>GAG		smoothelin isoform c							218.0	155.0	176.0					22																	31500334		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31500334T>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2636T>A	22.37:g.31500334T>A	ENSP00000328635:p.Val879Glu					SMTN_uc003ajk.1_3'UTR|SMTN_uc003ajm.1_Missense_Mutation_p.V902E|SMTN_uc011ale.1_Missense_Mutation_p.V964E|SMTN_uc011alf.1_3'UTR|SMTN_uc003ajn.1_3'UTR|SMTN_uc011alg.1_3'UTR|SMTN_uc003ajo.1_3'UTR|SMTN_uc010gwe.1_3'UTR|SMTN_uc003ajp.1_RNA	p.V879E	NM_006932	NP_008863	P53814	SMTN_HUMAN			20	2854	+			879			CH.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2636T>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134995	0.94517	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;T	0.68025	-0.3;0.17	5.27	5.27	0.74061	Calponin homology domain (5);	0.000000	0.31156	N	0.008144	D	0.85296	0.5664	M	0.91196	3.185	0.80722	D	1	D;B	0.89917	1.0;0.248	D;B	0.85130	0.997;0.344	D	0.88861	0.3326	10	0.87932	D	0	.	15.4979	0.75669	0.0:0.0:0.0:1.0	.	902;879	E7EWD0;P53814	.;SMTN_HUMAN	E	902;879	ENSP00000351593:V902E;ENSP00000328635:V879E	ENSP00000328635:V879E	V	+	2	0	SMTN	29830334	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.972000	0.88022	2.134000	0.65973	0.448000	0.29417	GTG		0.632	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1		NM_134270		40	170	0	0	0	0.01441	0	40	170		
SLC5A1	6523	broad.mit.edu	37	22	32498214	32498214	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr22:32498214C>T	ENST00000266088.4	+	13	1905	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.P425L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AAACCCATTCCGGATGTGCAT	0.403																																						uc003amc.2		NaN																	0				skin(1)	1						c.(1654-1656)CCG>CTG		solute carrier family 5 (sodium/glucose							252.0	205.0	221.0					22																	32498214		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498214C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1655C>T	22.37:g.32498214C>T	ENSP00000266088:p.Pro552Leu					SLC5A1_uc011alz.1_Missense_Mutation_p.P425L	p.P552L	NM_000343	NP_000334	P13866	SC5A1_HUMAN			13	1887	+			552			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1655C>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954681	0.53293	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.86230	-2.09;-2.09	5.54	5.54	0.83059	.	0.352416	0.32655	N	0.005808	D	0.89536	0.6743	M	0.86502	2.82	0.80722	D	1	B	0.29378	0.243	B	0.27715	0.082	D	0.88915	0.3362	10	0.72032	D	0.01	.	18.4684	0.90763	0.0:1.0:0.0:0.0	.	552	P13866	SC5A1_HUMAN	L	552;425	ENSP00000266088:P552L;ENSP00000444898:P425L	ENSP00000266088:P552L	P	+	2	0	SLC5A1	30828214	0.975000	0.34042	1.000000	0.80357	0.944000	0.59088	3.786000	0.55431	2.601000	0.87937	0.655000	0.94253	CCG		0.403	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3		NM_000343		15	165	0	0	0	0.004007	0	15	165		
SEMA5B	54437	broad.mit.edu	37	3	122642517	122642517	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr3:122642517C>T	ENST00000357599.3	-	10	1605	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E461K|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E407K	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTGGGGTTCTCCTGGTAGCGA	0.557																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1219-1221)GAG>AAG		semaphorin 5B isoform 1							100.0	101.0	101.0					3																	122642517		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642517C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1219G>A	3.37:g.122642517C>T	ENSP00000350215:p.Glu407Lys					SEMA5B_uc011bju.1_Missense_Mutation_p.E349K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E407K|SEMA5B_uc010hro.1_Missense_Mutation_p.E349K|SEMA5B_uc010hrp.1_RNA	p.E407K	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1523	-			407			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1219G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187499	0.94923	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.22	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.052993	0.85682	D	0.000000	T	0.28863	0.0716	L	0.46614	1.455	0.58432	D	0.999999	D;D;D	0.63880	0.991;0.993;0.993	D;D;D	0.69307	0.937;0.963;0.963	T	0.01998	-1.1232	10	0.72032	D	0.01	.	13.3218	0.60436	0.0:0.9243:0.0:0.0757	.	349;407;407	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	K	407;407;349;461;407	ENSP00000350215:E407K;ENSP00000195173:E407K;ENSP00000389588:E461K;ENSP00000377208:E407K	ENSP00000195173:E407K	E	-	1	0	SEMA5B	124125207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	1.583000	0.49898	0.655000	0.94253	GAG		0.557	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		57	146	0	0	0	0.01441	0	57	146		
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	C	G	rs556354486		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr3:195505772C>G	ENST00000463781.3	-	2	13138	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_ENST00000475231.1_Missense_Mutation_p.V4227L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	984					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		15508	0.0		0.001	False		,,,				2504	0.0					uc011bto.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(12295-12297)GTC>CTC		mucin 4 isoform a																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505772C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12679G>C	3.37:g.195505772C>G	ENSP00000417498:p.Val4227Leu					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.V4099L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12755	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	984			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12295G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	5.247	0.230981	0.09969	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.56;1.6	1.57	0.566	0.17317	.	.	.	.	.	T	0.14227	0.0344	N	0.14661	0.345	0.19300	N	0.999978	B	0.27765	0.188	B	0.22601	0.04	T	0.27640	-1.0068	8	.	.	.	.	5.595	0.17321	0.0:0.6491:0.3509:0.0	.	4099	E7ESK3	.	L	4227	ENSP00000417498:V4227L;ENSP00000420243:V4227L	.	V	-	1	0	MUC4	196990551	0.000000	0.05858	0.020000	0.16555	0.011000	0.07611	-0.070000	0.11523	0.201000	0.20466	0.484000	0.47621	GTC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		3	35	0	0	0	0.004482	0	3	35		
ZFYVE28	57732	broad.mit.edu	37	4	2341289	2341289	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr4:2341289C>A	ENST00000290974.2	-	4	751	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	ZFYVE28_ENST00000503000.1_Missense_Mutation_p.V138L|ZFYVE28_ENST00000509171.1_Missense_Mutation_p.V91L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V138L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V68L|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.V68L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	138					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCGCCCCGCACGTCCTCCAGG	0.667																																						uc003gex.1		NaN																	0				skin(2)|ovary(1)	3						c.(412-414)GTG>TTG		zinc finger, FYVE domain containing 28							58.0	49.0	52.0					4																	2341289		2203	4300	6503	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2341289C>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.412G>T	4.37:g.2341289C>A	ENSP00000290974:p.Val138Leu					ZFYVE28_uc011bvk.1_Missense_Mutation_p.V68L|ZFYVE28_uc011bvl.1_Missense_Mutation_p.V138L|ZFYVE28_uc003gey.3_Missense_Mutation_p.V68L|ZFYVE28_uc003gez.2_Missense_Mutation_p.V91L|ZFYVE28_uc003gew.1_Missense_Mutation_p.V24L	p.V138L	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			4	731	-			138					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.412G>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824733	0.32237	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312;ENST00000515169;ENST00000509171;ENST00000503000;ENST00000508184	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.3	3.39	0.38822	.	0.069431	0.56097	D	0.000025	T	0.23806	0.0576	L	0.34521	1.04	0.58432	D	0.999998	B;B;B	0.27013	0.095;0.022;0.166	B;B;B	0.27170	0.077;0.011;0.076	T	0.06499	-1.0823	10	0.23891	T	0.37	.	14.819	0.70055	0.0:0.8415:0.1585:0.0	.	138;91;138	Q9HCC9-2;E9PB54;Q9HCC9	.;.;LST2_HUMAN	L	138;138;68;68;91;138;68	ENSP00000290974:V138L;ENSP00000425706:V138L;ENSP00000426299:V68L;ENSP00000425766:V68L;ENSP00000422638:V91L;ENSP00000423694:V138L;ENSP00000427471:V68L	ENSP00000290974:V138L	V	-	1	0	ZFYVE28	2311087	1.000000	0.71417	0.934000	0.37439	0.980000	0.70556	5.350000	0.66016	1.947000	0.56498	0.585000	0.79938	GTG		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1		XM_035371		21	9	1	0	1.55795e-14	0.012319	1.80394e-14	21	9		
DEFB131	644414	broad.mit.edu	37	4	9452168	9452168	+	Silent	SNP	T	T	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr4:9452168T>C	ENST00000334879.1	+	2	141	c.141T>C	c.(139-141)atT>atC	p.I47I		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	47					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						AACATGCAATTAGATACTGTG	0.373																																						uc011bwt.1		NaN																	0					0						c.(139-141)ATT>ATC		defensin, beta 131 precursor																																				SO:0001819	synonymous_variant	644414				defense response to bacterium	extracellular region		g.chr4:9452168T>C	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.141T>C	4.37:g.9452168T>C							p.I47I	NM_001040448	NP_001035538	P59861	DB131_HUMAN			2	141	+			47						Silent	SNP	ENST00000334879.1	37	c.141T>C	CCDS43213.1																																																																																				0.373	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1		NM_001040448		4	24	0	0	0	0.006214	0	4	24		
CDKN1A	1026	broad.mit.edu	37	6	36652024	36652024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr6:36652024G>A	ENST00000405375.1	+	2	381	c.146G>A	c.(145-147)tGg>tAg	p.W49*	CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.W49*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.W83*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.W49*|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	49					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.W49*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CGTGAGCGATGGAACTTCGAC	0.667																																						uc003omm.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(145-147)TGG>TAG		cyclin-dependent kinase inhibitor 1A							57.0	51.0	53.0					6																	36652024		2203	4300	6503	SO:0001587	stop_gained	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652024G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.146G>A	6.37:g.36652024G>A	ENSP00000384849:p.Trp49*					CDKN1A_uc011dtq.1_Nonsense_Mutation_p.W83*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.W49*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.W49*	p.W49*	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	268	+			49					Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	ENST00000405375.1	37	c.146G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490354	0.96339	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.06	5.06	0.68205	.	0.000000	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.4034	13.8081	0.63246	0.0:0.0:1.0:0.0	.	.	.	.	X	83;49;49;49	.	ENSP00000244741:W49X	W	+	2	0	CDKN1A	36760002	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.535000	0.73838	2.642000	0.89623	0.561000	0.74099	TGG		0.667	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		82	12	0	0	0	0.01441	0	82	12		
MDGA1	266727	broad.mit.edu	37	6	37605212	37605212	+	Missense_Mutation	SNP	C	C	T	rs370621790		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr6:37605212C>T	ENST00000434837.3	-	17	3978	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	MDGA1_ENST00000297153.7_Missense_Mutation_p.A938T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	934					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGGCAGGGGGCTCCACTGCCC	0.652																																						uc003onu.1		NaN																	0				central_nervous_system(2)	2						c.(2800-2802)GCC>ACC		MAM domain containing		C	THR/ALA	0,4088		0,0,2044	34.0	39.0	37.0		2800	4.7	1.0	6		37	1,8391		0,1,4195	no	missense	MDGA1	NM_153487.3	58	0,1,6239	TT,TC,CC		0.0119,0.0,0.0080	benign	934/956	37605212	1,12479	2044	4196	6240	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37605212C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2800G>A	6.37:g.37605212C>T	ENSP00000402584:p.Ala934Thr					MDGA1_uc003onv.1_3'UTR	p.A934T	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			17	3979	-			934					A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.2800G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211831	0.58452	0.0	1.19E-4	ENSG00000112139	ENST00000434837;ENST00000297153	T;T	0.54479	0.57;0.71	4.68	4.68	0.58851	.	1.638490	0.03778	N	0.260811	T	0.19886	0.0478	N	0.08118	0	0.22366	N	0.999168	B	0.15719	0.014	B	0.14023	0.01	T	0.21177	-1.0253	10	0.72032	D	0.01	.	10.685	0.45837	0.191:0.809:0.0:0.0	.	934	Q8NFP4	MDGA1_HUMAN	T	934;938	ENSP00000402584:A934T;ENSP00000297153:A938T	ENSP00000297153:A938T	A	-	1	0	MDGA1	37713190	0.954000	0.32549	0.988000	0.46212	0.925000	0.55904	3.014000	0.49590	2.306000	0.77630	0.555000	0.69702	GCC		0.652	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3				27	65	0	0	0	0.009535	0	27	65		
KMT2C	58508	broad.mit.edu	37	7	151962205	151962205	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr7:151962205C>G	ENST00000262189.6	-	8	1320	c.1102G>C	c.(1102-1104)Gga>Cga	p.G368R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G368R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	368					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGCACATTCCATGATAGTGC	0.443																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1102-1104)GGA>CGA		myeloid/lymphoid or mixed-lineage leukemia 3							428.0	383.0	398.0					7																	151962205		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962205C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1102G>C	7.37:g.151962205C>G	ENSP00000262189:p.Gly368Arg						p.G368R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1321	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	368			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1102G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235737	0.39498	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98876	-5.2;-5.2	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41097	U	0.000941	D	0.98658	0.9550	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99905	1.1176	10	0.62326	D	0.03	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	368	Q8NEZ4	MLL3_HUMAN	R	368	ENSP00000262189:G368R;ENSP00000347325:G368R	ENSP00000262189:G368R	G	-	1	0	MLL3	151593138	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GGA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				25	597	0	0	0	0.008361	0	25	597		
DCAF12	25853	broad.mit.edu	37	9	34107398	34107398	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr9:34107398T>C	ENST00000361264.4	-	3	840	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	167					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AGTCGATAGATGGCAAGACTG	0.507																																						uc003ztt.2		NaN																	0					0						c.(499-501)ATC>GTC		DDB1 and CUL4 associated factor 12							268.0	225.0	240.0					9																	34107398		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34107398T>C	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.499A>G	9.37:g.34107398T>C	ENSP00000355114:p.Ile167Val						p.I167V	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			3	841	-			167			WD 1.		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.499A>G	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270337	0.23221	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.62364	0.03;0.03;0.03	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058650	0.64402	D	0.000001	T	0.35970	0.0950	N	0.03324	-0.35	0.44677	D	0.997666	B	0.11235	0.004	B	0.09377	0.004	T	0.24261	-1.0165	10	0.13108	T	0.6	-21.6444	13.1062	0.59249	0.0:0.0:0.0:1.0	.	167	Q5T6F0	DCA12_HUMAN	V	167;149;146	ENSP00000355114:I167V;ENSP00000380187:I149V;ENSP00000415833:I146V	ENSP00000355114:I167V	I	-	1	0	DCAF12	34097398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.457000	0.53007	2.081000	0.62600	0.533000	0.62120	ATC		0.507	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		NM_015397		48	55	0	0	0	0.01441	0	48	55		
XG	7499	broad.mit.edu	37	X	2729397	2729397	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:2729397G>A	ENST00000381174.5	+	9	655	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	XG_ENST00000419513.2_Missense_Mutation_p.V159M|snoU13_ENST00000516039.1_RNA|XG_ENST00000426774.1_Missense_Mutation_p.V145M			P55808	XG_HUMAN	Xg blood group	144						integral component of plasma membrane (GO:0005887)		p.V144M(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGCAAAAATCGTGTCTCCCAT	0.448																																						uc011mhg.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(430-432)GTG>ATG		XG glycoprotein isoform 1 precursor							59.0	54.0	55.0					X																	2729397		2203	4298	6501	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2729397G>A	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.430G>A	X.37:g.2729397G>A	ENSP00000370566:p.Val144Met					XG_uc004cqp.2_Missense_Mutation_p.V159M	p.V144M	NM_175569	NP_780778	P55808	XG_HUMAN			9	653	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	144			Helical; (Potential).		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.430G>A	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312687	0.40895	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	3.58	3.58	0.41010	.	0.430509	0.19848	U	0.104712	T	0.48429	0.1499	L	0.57536	1.79	0.22629	N	0.998911	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.23691	-1.0181	10	0.54805	T	0.06	.	10.5451	0.45056	0.0:0.0:1.0:0.0	.	144;159	P55808;P55808-3	XG_HUMAN;.	M	144;159;145;122;6	ENSP00000370566:V144M;ENSP00000411004:V159M;ENSP00000398503:V145M;ENSP00000430005:V122M	ENSP00000370566:V144M	V	+	1	0	XG	2739397	0.345000	0.24835	0.242000	0.24170	0.335000	0.28730	2.489000	0.45285	1.588000	0.49971	0.371000	0.22339	GTG		0.448	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2		NM_175569		18	18	0	0	0	0.00333	0	18	18		
FAM47C	442444	broad.mit.edu	37	X	37028026	37028026	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:37028026T>C	ENST00000358047.3	+	1	1595	c.1543T>C	c.(1543-1545)Tct>Cct	p.S515P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	515										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTTCTGAGACTGG	0.612																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(1543-1545)TCT>CCT		hypothetical protein LOC442444							85.0	82.0	83.0					X																	37028026		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028026T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1543T>C	X.37:g.37028026T>C	ENSP00000367913:p.Ser515Pro						p.S515P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1557	+			515					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1543T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.341336	0.01277	.	.	ENSG00000198173	ENST00000358047	T	0.07327	3.2	0.993	-1.99	0.07457	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41161	-0.9524	9	0.02654	T	1	.	2.8379	0.05520	0.2105:0.4234:0.0:0.3661	.	515	Q5HY64	FA47C_HUMAN	P	515	ENSP00000367913:S515P	ENSP00000367913:S515P	S	+	1	0	FAM47C	36937947	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.092000	0.01354	-1.920000	0.01069	-0.706000	0.03657	TCT		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		4	96	0	0	0	0.009096	0	4	96		
ACRC	93953	broad.mit.edu	37	X	70823916	70823916	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:70823916A>T	ENST00000373695.1	+	7	1326	c.789A>T	c.(787-789)gaA>gaT	p.E263D	ACRC_ENST00000373696.3_Missense_Mutation_p.E263D			Q96QF7	ACRC_HUMAN	acidic repeat containing	263	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGATTCGGAAGCTCCCGACG	0.552																																						uc004eae.2		NaN																	0				ovary(3)	3						c.(787-789)GAA>GAT		ACRC protein							21.0	23.0	22.0					X																	70823916		2123	4121	6244	SO:0001583	missense	93953					nucleus		g.chrX:70823916A>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.789A>T	X.37:g.70823916A>T	ENSP00000362799:p.Glu263Asp					BCYRN1_uc011mpt.1_Intron	p.E263D	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1290	+	Renal(35;0.156)		263			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.789A>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	a	0.627	-0.818772	0.02776	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.33654	1.4;1.4	0.14	0.14	0.14804	.	.	.	.	.	T	0.12646	0.0307	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.32693	-0.9897	9	0.12103	T	0.63	.	4.5869	0.12287	0.9995:0.0:5.0E-4:0.0	.	263	Q96QF7	ACRC_HUMAN	D	263	ENSP00000362800:E263D;ENSP00000362799:E263D	ENSP00000362799:E263D	E	+	3	2	ACRC	70740641	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.646000	0.00860	0.144000	0.18951	0.142000	0.15990	GAA		0.552	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1				6	96	0	0	0	0.001984	0	6	96		
ACRC	93953	broad.mit.edu	37	X	70823918	70823918	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:70823918C>T	ENST00000373695.1	+	7	1328	c.791C>T	c.(790-792)gCt>gTt	p.A264V	ACRC_ENST00000373696.3_Missense_Mutation_p.A264V			Q96QF7	ACRC_HUMAN	acidic repeat containing	264	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATTCGGAAGCTCCCGACGAC	0.557																																						uc004eae.2		NaN																	0				ovary(3)	3						c.(790-792)GCT>GTT		ACRC protein							23.0	24.0	24.0					X																	70823918		2143	4156	6299	SO:0001583	missense	93953					nucleus		g.chrX:70823918C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.791C>T	X.37:g.70823918C>T	ENSP00000362799:p.Ala264Val					BCYRN1_uc011mpt.1_Intron	p.A264V	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1292	+	Renal(35;0.156)		264			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.791C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	c	3.203	-0.163335	0.06502	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.33654	1.4;1.4	0.14	0.14	0.14804	.	.	.	.	.	T	0.13500	0.0327	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.22906	-1.0203	9	0.30078	T	0.28	.	3.6887	0.08338	2.0E-4:0.509:0.4907:1.0E-4	.	264	Q96QF7	ACRC_HUMAN	V	264	ENSP00000362800:A264V;ENSP00000362799:A264V	ENSP00000362799:A264V	A	+	2	0	ACRC	70740643	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-5.140000	0.00147	0.168000	0.19655	0.169000	0.16792	GCT		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1				6	96	0	0	0	0.001984	0	6	96		
TAF1C	9013	broad.mit.edu	37	16	84213650	84213651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:84213650_84213651insG	ENST00000567759.1	-	13	1782_1783	c.1600_1601insC	c.(1600-1602)cagfs	p.Q534fs	TAF1C_ENST00000341690.6_Frame_Shift_Ins_p.Q440fs|TAF1C_ENST00000541676.1_Frame_Shift_Ins_p.Q441fs|TAF1C_ENST00000566732.1_Frame_Shift_Ins_p.Q508fs|TAF1C_ENST00000378541.4_Frame_Shift_Ins_p.Q534fs|TAF1C_ENST00000570117.1_Frame_Shift_Ins_p.Q202fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	534					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.Q534fs*19(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGAAGAGACTGGGGGGGGCCT	0.663																																						uc002fhn.2		NaN																	1	Insertion - Frameshift(1)		ovary(1)	ovary(1)	1						c.(1600-1602)CAGfs		TBP-associated factor 1C isoform 1																																				SO:0001589	frameshift_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213650_84213651insG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1601dupC	16.37:g.84213658_84213658dupG	ENSP00000455265:p.Gln534fs					TAF1C_uc002fhm.2_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.1_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.1_Frame_Shift_Ins_p.Q125fs|TAF1C_uc010vnz.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.2_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhp.1_Intron	p.Q534fs	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			13	1828_1829	-			534					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Ins	INS	ENST00000567759.1	37	c.1600_1601insC	CCDS32496.1																																																																																				0.663	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		NM_139353		7	87	NaN	NaN	NaN	NaN	NaN	7	87	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					uc002gnn.2		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(910-912)CAGdel		myocardin isoform 2			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_uc002gno.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	p.Q310del	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1209_1211	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1		NM_153604		7	78	NaN	NaN	NaN	NaN	NaN	7	78	---	---
ACPT	93650	broad.mit.edu	37	19	51298106	51298106	+	Frame_Shift_Del	DEL	C	C	-	rs201376769		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:51298106delC	ENST00000270593.1	+	10	1050	c.1050delC	c.(1048-1050)ctcfs	p.L350fs	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Frame_Shift_Del_p.L257fs	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	350						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTCTCAGCCTCCCCGGGTGCC	0.682																																						uc002pta.1		NaN																	0					0						c.(1048-1050)CTCfs		testicular acid phosphatase precursor							93.0	107.0	102.0					19																	51298106		2203	4298	6501	SO:0001589	frameshift_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51298106delC	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1050delC	19.37:g.51298106delC	ENSP00000270593:p.Leu350fs						p.L350fs	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	10	1050	+		all_neural(266;0.057)	350			Extracellular (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Frame_Shift_Del	DEL	ENST00000270593.1	37	c.1050delC	CCDS12802.1																																																																																				0.682	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1		NM_033068		7	828	NaN	NaN	NaN	NaN	NaN	7	828	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178772259	178772260	+	In_Frame_Ins	INS	-	-	GCA	rs568040559|rs372468383|rs193247334	byFrequency	TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr5:178772259_178772260insGCA	ENST00000251582.7	-	1	171_172	c.70_71insTGC	c.(70-72)ccg>cTGCcg	p.23_24insL	ADAMTS2_ENST00000274609.5_In_Frame_Ins_p.23_24insL	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	23					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		gagcggcggcggcagcagcagc	0.812														904	0.180511	0.1135	0.1354	5008	,	,		3151	0.2718		0.1382	False		,,,				2504	0.2526					uc003mjw.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(70-72)CCG>CTGCCG		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001652	inframe_insertion	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178772259_178772260insGCA	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.68_70dupTGC	5.37:g.178772266_178772268dupGCA	ENSP00000251582:p.Leu23_Leu23dup					ADAMTS2_uc011dgm.1_In_Frame_Ins_p.23_24insL	p.23_24insL	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	1	70_71	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	23_24						In_Frame_Ins	INS	ENST00000251582.7	37	c.70_71insTGC	CCDS4444.1																																																																																				0.812	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		7	12	NaN	NaN	NaN	NaN	NaN	7	12	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1654-1656)CCTdel		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P553del	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		9	442	NaN	NaN	NaN	NaN	NaN	9	442	---	---
