#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR4C13	283092	broad.mit.edu	37	11	49974721	49974721	+	Silent	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974721T>C	ENST00000555099.1	+	1	779	c.747T>C	c.(745-747)ttT>ttC	p.F249F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATCCTTTATACCCTGCA	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(745-747)ttT>ttC		olfactory receptor, family 4, subfamily C, member 13							177.0	158.0	164.0					11																	49974721		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974721T>C	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.747T>C	11.37:g.49974721T>C							p.F249F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	779	+			249					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.747T>C	CCDS31495.1																																																																																				0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		141	197	0	0	0	1	0	141	197				
MSTO1	55154	broad.mit.edu	37	1	155582849	155582849	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:155582849G>T	ENST00000245564.2	+	11	1132	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	370					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGTGGTGACAGCAGGAGCAAT	0.517																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(1108-1110)Gca>Tca		misato 1, mitochondrial distribution and morphology regulator							127.0	124.0	125.0					1																	155582849		2203	4300	6503	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582849G>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1108G>T	1.37:g.155582849G>T	ENSP00000245564:p.Ala370Ser					MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	p.A370S	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			11	1132	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		370					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.1108G>T	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	16.28	3.079591	0.55753	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.51817	0.7;0.69	2.84	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.66939	2.045	0.80722	D	1	P;P;D;D;D;D;D	0.89917	0.949;0.881;0.996;1.0;0.996;0.996;0.998	D;P;D;D;P;D;D	0.83275	0.909;0.569;0.94;0.996;0.9;0.959;0.959	T	0.46898	-0.9158	10	0.21014	T	0.42	.	10.1225	0.42630	0.0:0.0:0.7993:0.2007	.	315;370;335;192;370;370;370	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	S	370;335	ENSP00000245564:A370S;ENSP00000357325:A335S	ENSP00000245564:A370S	A	+	1	0	MSTO1	153849473	0.991000	0.36638	0.997000	0.53966	0.691000	0.40173	3.988000	0.56951	1.583000	0.49898	0.313000	0.20887	GCA		0.517	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		6	167	1	0	5.68852e-11	1	6.48492e-11	6	167				
TMX1	81542	broad.mit.edu	37	14	51713839	51713839	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr14:51713839A>G	ENST00000457354.2	+	4	469	c.344A>G	c.(343-345)cAg>cGg	p.Q115R	SNORA70_ENST00000364506.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	115	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AGGCGCTATCAGGGTCCAAGG	0.338																																						ENST00000457354.2																			0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(343-345)cAg>cGg		thioredoxin-related transmembrane protein 1							124.0	117.0	119.0					14																	51713839		1816	4085	5901	SO:0001583	missense	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51713839A>G	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.344A>G	14.37:g.51713839A>G	ENSP00000393316:p.Gln115Arg						p.Q115R	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN			4	469	+			115			Thioredoxin.		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	ENST00000457354.2	37	c.344A>G	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	A	7.334	0.619621	0.14193	.	.	ENSG00000139921	ENST00000457354	T	0.69806	-0.43	5.68	4.51	0.55191	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.106427	0.64402	D	0.000004	T	0.50480	0.1618	N	0.03084	-0.415	0.40413	D	0.979766	D;B	0.57571	0.98;0.001	P;B	0.53649	0.731;0.014	T	0.48222	-0.9054	10	0.15066	T	0.55	-2.0215	10.7469	0.46185	0.853:0.0:0.0:0.147	.	31;115	B4DZX7;Q9H3N1	.;TMX1_HUMAN	R	115	ENSP00000393316:Q115R	ENSP00000393316:Q115R	Q	+	2	0	TMX1	50783589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.545000	0.73883	0.933000	0.37291	0.460000	0.39030	CAG		0.338	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		4	204	0	0	0	1	0	4	204				
CSMD3	114788	broad.mit.edu	37	8	113484839	113484839	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484839T>C	ENST00000297405.5	-	32	5620	c.5376A>G	c.(5374-5376)atA>atG	p.I1792M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M|AC024996.1_ENST00000582664.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGAACTGCTATAGAATAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5374-5376)atA>atG		CUB and Sushi multiple domains 3							109.0	103.0	105.0					8																	113484839		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484839T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5376A>G	8.37:g.113484839T>C	ENSP00000297405:p.Ile1792Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M	p.I1792M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5620	-			1792			CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5376A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505549	0.44558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72725	-0.68;-0.68;0.8;-0.68;1.32	5.07	5.07	0.68467	CUB (5);	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	H	0.94222	3.51	0.21473	N	0.999679	D;P;D	0.59357	0.973;0.916;0.985	P;P;D	0.65443	0.859;0.824;0.935	T	0.79351	-0.1839	10	0.72032	D	0.01	.	2.2185	0.03966	0.1559:0.0846:0.1628:0.5967	.	1688;1792;1752	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1752;1792;1132;1688;1792	ENSP00000345799:I1752M;ENSP00000297405:I1792M;ENSP00000341558:I1132M;ENSP00000412263:I1688M;ENSP00000343124:I1792M	ENSP00000297405:I1792M	I	-	3	3	CSMD3	113554015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.642000	0.24735	2.125000	0.65367	0.482000	0.46254	ATA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		46	288	0	0	0	1	0	46	288				
CSMD3	114788	broad.mit.edu	37	8	113484933	113484933	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484933G>A	ENST00000297405.5	-	32	5526	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L|AC024996.1_ENST00000582664.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1761						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTCCACAGGGCGCTAGGAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5281-5283)cCc>cTc		CUB and Sushi multiple domains 3							76.0	74.0	75.0					8																	113484933		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484933G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5282C>T	8.37:g.113484933G>A	ENSP00000297405:p.Pro1761Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L	p.P1761L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5526	-			1761					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5282C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227681	0.79576	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30182	1.93;1.93;1.54;1.93;2.03	5.07	5.07	0.68467	CUB (2);	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.41632	1.29	0.58432	D	0.999996	P;D;D	0.76494	0.815;0.999;0.992	P;D;D	0.79784	0.519;0.993;0.936	T	0.17592	-1.0364	10	0.29301	T	0.29	.	18.2401	0.89965	0.0:0.0:1.0:0.0	.	1657;1761;1721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	1721;1761;1101;1657;1761	ENSP00000345799:P1721L;ENSP00000297405:P1761L;ENSP00000341558:P1101L;ENSP00000412263:P1657L;ENSP00000343124:P1761L	ENSP00000297405:P1761L	P	-	2	0	CSMD3	113554109	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.222000	0.95196	2.630000	0.89119	0.591000	0.81541	CCC		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	184	0	0	0	1	0	28	184				
RNF20	56254	broad.mit.edu	37	9	104307093	104307093	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:104307093C>T	ENST00000389120.3	+	6	763	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	225					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAACTCTTTCCTCGCACAGGA	0.413																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(673-675)Ctc>Ttc		ring finger protein 20, E3 ubiquitin protein ligase							112.0	113.0	113.0					9																	104307093		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104307093C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.673C>T	9.37:g.104307093C>T	ENSP00000373772:p.Leu225Phe						p.L225F	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	6	763	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	225					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.673C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362508	0.61403	.	.	ENSG00000155827	ENST00000389120	T	0.80480	-1.38	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	M	0.78049	2.395	0.58432	D	0.999995	D	0.71674	0.998	D	0.75484	0.986	D	0.88716	0.3226	10	0.59425	D	0.04	-9.7904	13.6438	0.62267	0.0:0.8824:0.0:0.1176	.	225	Q5VTR2	BRE1A_HUMAN	F	225	ENSP00000373772:L225F	ENSP00000373772:L225F	L	+	1	0	RNF20	103346914	1.000000	0.71417	0.993000	0.49108	0.901000	0.52897	2.961000	0.49168	2.937000	0.99478	0.650000	0.86243	CTC		0.413	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	157	0	0	0	1	0	5	157				
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443																																						ENST00000370801.3																			1	Substitution - Missense(1)	p.P347S(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1039-1041)Cca>Tca		zinc finger, ZZ-type containing 3							181.0	165.0	170.0					1																	78098001		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098001G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1039C>T	1.37:g.78098001G>A	ENSP00000359837:p.Pro347Ser					ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	p.P347S	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1514	-			347					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1039C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	1.501	-0.552143	0.03996	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	5.4	0.78164	.	0.113130	0.64402	D	0.000009	T	0.22551	0.0544	N	0.21448	0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.002	B;B;B	0.10450	0.003;0.002;0.005	T	0.13469	-1.0508	8	.	.	.	.	7.3643	0.26764	0.2017:0.0:0.7983:0.0	.	347;347;347	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	347	.	.	P	-	1	0	ZZZ3	77870589	1.000000	0.71417	0.378000	0.26068	0.018000	0.09664	4.196000	0.58407	2.714000	0.92807	0.650000	0.86243	CCA		0.443	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	247	0	0	0	1	0	4	247				
KIAA1429	25962	broad.mit.edu	37	8	95531654	95531654	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:95531654A>C	ENST00000297591.5	-	9	2147	c.2072T>G	c.(2071-2073)aTt>aGt	p.I691S	KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S|KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	691					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTACTGGAATTGACAGAAG	0.408																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2071-2073)aTt>aGt		KIAA1429							77.0	77.0	77.0					8																	95531654		2195	4278	6473	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531654A>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2072T>G	8.37:g.95531654A>C	ENSP00000297591:p.Ile691Ser					KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S	p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2147	-	Breast(36;3.29e-05)		691					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.2072T>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	9.354	1.066209	0.20067	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.69040	-0.37;-0.37;-0.37	5.4	5.4	0.78164	.	0.222920	0.48286	D	0.000190	T	0.44603	0.1301	N	0.08118	0	0.33969	D	0.646574	B;B	0.19200	0.034;0.034	B;B	0.22601	0.04;0.04	T	0.52726	-0.8537	10	0.17369	T	0.5	-13.8982	11.4787	0.50312	0.8655:0.0:0.0:0.1345	.	691;691	Q69YN4-4;Q69YN4	.;VIR_HUMAN	S	691	ENSP00000297591:I691S;ENSP00000395600:I691S;ENSP00000398390:I691S	ENSP00000297591:I691S	I	-	2	0	KIAA1429	95600830	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.499000	0.53310	2.176000	0.68965	0.379000	0.24179	ATT		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		84	118	0	0	0	1	0	84	118				
CD163	9332	broad.mit.edu	37	12	7639259	7639259	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr12:7639259G>A	ENST00000359156.4	-	10	2496	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000396620.3_Missense_Mutation_p.A798V|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.A753V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	765	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCATTAATGGCCTCTCCACA	0.537																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2293-2295)gCc>gTc		CD163 molecule							166.0	164.0	165.0					12																	7639259		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639259G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2294C>T	12.37:g.7639259G>A	ENSP00000352071:p.Ala765Val					CD163_ENST00000396620.3_Missense_Mutation_p.A798V|CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V	p.A765V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2496	-			765			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2294C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843430	0.91197	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.54	5.54	0.83059	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.79370	0.4434	M	0.75150	2.29	0.44995	D	0.998013	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.97110	1.0;0.605;1.0	T	0.79669	-0.1707	10	0.54805	T	0.06	.	17.3432	0.87303	0.0:0.0:1.0:0.0	.	798;765;765	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	765;753;798;765	ENSP00000352071:A765V;ENSP00000444071:A753V;ENSP00000379863:A798V;ENSP00000403885:A765V	ENSP00000352071:A765V	A	-	2	0	CD163	7530526	1.000000	0.71417	0.981000	0.43875	0.986000	0.74619	7.964000	0.87933	2.776000	0.95493	0.650000	0.86243	GCC		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		41	218	0	0	0	1	0	41	218				
ANK2	287	broad.mit.edu	37	4	114208764	114208764	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:114208764G>A	ENST00000357077.4	+	19	2136	c.2083G>A	c.(2083-2085)Gga>Aga	p.G695R	ANK2_ENST00000394537.3_Missense_Mutation_p.G695R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R|ANK2_ENST00000506722.1_Missense_Mutation_p.G674R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	695					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTAGAGTGGACTCACATC	0.348																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2083-2085)Gga>Aga		ankyrin 2, neuronal							114.0	98.0	104.0					4																	114208764		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114208764G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2083G>A	4.37:g.114208764G>A	ENSP00000349588:p.Gly695Arg					ANK2_ENST00000394537.3_Missense_Mutation_p.G695R|ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R	p.G695R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	19	2136	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	695					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2083G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734500	0.69189	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000105	T	0.59542	0.2201	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.66122	-0.6002	10	0.72032	D	0.01	.	19.3884	0.94566	0.0:0.0:1.0:0.0	.	695;695;695;674;674	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	674;641;674;710;695;695;695;674	ENSP00000423799:G674R;ENSP00000421011:G641R;ENSP00000421067:G674R;ENSP00000424722:G710R;ENSP00000378044:G695R;ENSP00000349588:G695R;ENSP00000264366:G695R	ENSP00000264366:G695R	G	+	1	0	ANK2	114428213	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.819000	0.99357	2.550000	0.86006	0.650000	0.86243	GGA		0.348	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	95	0	0	0	1	0	10	95				
PCSK4	54760	broad.mit.edu	37	19	1487226	1487226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:1487226C>T	ENST00000300954.5	-	7	830	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGCTGGCGCTGTAAATG	0.682																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(769-771)Gcc>Acc		proprotein convertase subtilisin/kexin type 4							20.0	21.0	21.0					19																	1487226		2202	4295	6497	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487226C>T	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.769G>A	19.37:g.1487226C>T	ENSP00000300954:p.Ala257Thr					PCSK4_ENST00000587784.1_5'UTR	p.A257T	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	830	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	257			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.769G>A	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	32	5.177967	0.94846	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.87729	-2.29	3.63	3.63	0.41609	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.115400	0.36591	U	0.002506	D	0.94932	0.8361	H	0.94264	3.515	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.96248	0.9181	10	0.87932	D	0	.	14.2003	0.65699	0.0:1.0:0.0:0.0	.	257;69	Q6UW60;B3KQ28	PCSK4_HUMAN;.	T	257;69	ENSP00000300954:A257T	ENSP00000300954:A257T	A	-	1	0	PCSK4	1438226	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.202000	0.77856	1.742000	0.51746	0.491000	0.48974	GCC		0.682	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		25	17	0	0	0	1	0	25	17				
ZNF254	9534	broad.mit.edu	37	19	24309234	24309234	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:24309234G>A	ENST00000357002.4	+	4	547	c.432G>A	c.(430-432)caG>caA	p.Q144Q	ZNF254_ENST00000342944.6_Silent_p.Q59Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GACTTAACCAGTGTTTCACAA	0.313																																						ENST00000357002.4																			0											c.(430-432)caG>caA		zinc finger protein 254							65.0	67.0	67.0					19																	24309234		2203	4300	6503	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309234G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.432G>A	19.37:g.24309234G>A						ZNF254_ENST00000342944.6_Silent_p.Q59Q	p.Q144Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	547	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	144					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.432G>A	CCDS32983.1																																																																																				0.313	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	196	0	0	0	1	0	4	196				
RGPD3	653489	broad.mit.edu	37	2	107040253	107040253	+	Silent	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:107040253A>G	ENST00000409886.3	-	20	4257	c.4170T>C	c.(4168-4170)aaT>aaC	p.N1390N	RGPD3_ENST00000304514.7_Silent_p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1390	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACGTGCTTATTATCATAAT	0.353																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4168-4170)aaT>aaC		RANBP2-like and GRIP domain containing 3							124.0	95.0	104.0					2																	107040253		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040253A>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4170T>C	2.37:g.107040253A>G						RGPD3_ENST00000304514.7_Silent_p.N1390N	p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	4257	-			1390			RanBD1 2.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.4170T>C	CCDS46379.1																																																																																				0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	891	0	0	0	1	0	10	891				
SLC10A7	84068	broad.mit.edu	37	4	147431123	147431123	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:147431123T>C	ENST00000507030.1	-	3	261	c.262A>G	c.(262-264)Ata>Gta	p.I88V	SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000432059.2_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	88					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAGCCATATTGTTGCTGGG	0.368																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(262-264)Ata>Gta		solute carrier family 10, member 7							88.0	89.0	89.0					4																	147431123		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147431123T>C	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.262A>G	4.37:g.147431123T>C	ENSP00000421275:p.Ile88Val					SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V	p.I88V			Q0GE19	NTCP7_HUMAN			3	508	-	all_hematologic(180;0.151)		88					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.262A>G	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301706	0.05495	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	3.01	0.34805	.	0.189910	0.56097	N	0.000034	T	0.21468	0.0517	N	0.02379	-0.575	0.80722	D	1	B;B;B;B	0.11235	0.001;0.0;0.0;0.004	B;B;B;B	0.11329	0.006;0.003;0.002;0.004	T	0.11084	-1.0602	9	0.06625	T	0.88	-13.2585	9.0146	0.36161	0.0:0.1467:0.0:0.8533	.	88;88;88;88	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	V	88	.	ENSP00000334594:I88V	I	-	1	0	SLC10A7	147650573	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	1.539000	0.36104	0.449000	0.26747	0.533000	0.62120	ATA		0.368	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		86	71	0	0	0	1	0	86	71				
NRP1	8829	broad.mit.edu	37	10	33619800	33619800	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:33619800G>A	ENST00000265371.4	-	3	609	c.84C>T	c.(82-84)ggC>ggT	p.G28G	NRP1_ENST00000395995.1_Silent_p.G28G|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000432372.2_Silent_p.G28G			O14786	NRP1_HUMAN	neuropilin 1	28	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTATAGTATCGCCACATTTAT	0.378																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(82-84)ggC>ggT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						77.0	85.0	82.0					10																	33619800		2203	4299	6502	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33619800G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.84C>T	10.37:g.33619800G>A						NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000395995.1_Silent_p.G28G	p.G28G			O14786	NRP1_HUMAN			3	609	-			28			CUB 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.84C>T	CCDS7177.1																																																																																				0.378	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			36	90	0	0	0	1	0	36	90				
TMEM2	23670	broad.mit.edu	37	9	74347348	74347348	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:74347348G>C	ENST00000377044.4	-	7	2021	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	494					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTCTCCTTGGATCACAATAT	0.438																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1480-1482)atC>atG		transmembrane protein 2							128.0	115.0	119.0					9																	74347348		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74347348G>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1482C>G	9.37:g.74347348G>C	ENSP00000366243:p.Ile494Met					TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	p.I494M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	7	2021	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	494					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1482C>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840941	0.51057	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.92545	-3.06;-1.89	5.54	3.7	0.42460	Pectin lyase fold/virulence factor (1);	0.043499	0.85682	D	0.000000	D	0.95617	0.8575	M	0.89163	3.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.957;0.987	D	0.94313	0.7547	10	0.87932	D	0	.	6.7572	0.23520	0.144:0.0:0.6054:0.2506	.	494;431	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	M	494;431	ENSP00000366243:I494M;ENSP00000366266:I431M	ENSP00000366243:I494M	I	-	3	3	TMEM2	73537168	0.989000	0.36119	0.999000	0.59377	0.973000	0.67179	0.836000	0.27545	0.709000	0.31976	0.650000	0.86243	ATC		0.438	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		78	96	0	0	0	1	0	78	96				
CDHR5	53841	broad.mit.edu	37	11	621209	621209	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:621209G>A	ENST00000358353.3	-	8	982	c.660C>T	c.(658-660)acC>acT	p.T220T	CDHR5_ENST00000397542.2_Silent_p.T220T|CDHR5_ENST00000349570.7_Silent_p.T220T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTAGTGTGGCGGTGGCAGTGT	0.652																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(658-660)acC>acT		cadherin-related family member 5							61.0	62.0	62.0					11																	621209		2203	4299	6502	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621209G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.660C>T	11.37:g.621209G>A						CDHR5_ENST00000397542.2_Silent_p.T220T|CDHR5_ENST00000349570.7_Silent_p.T220T	p.T220T			Q9HBB8	CDHR5_HUMAN			8	982	-			220			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.660C>T	CCDS7707.1																																																																																				0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		52	56	0	0	0	1	0	52	56				
MORC1	27136	broad.mit.edu	37	3	108773717	108773717	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:108773717G>A	ENST00000483760.1	-	14	1231	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	MORC1_ENST00000232603.5_Silent_p.G396G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCAACCACGCCTGCGCCAA	0.308																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1186-1188)ggC>ggT		MORC family CW-type zinc finger 1							88.0	84.0	85.0					3																	108773717		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773717G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1188C>T	3.37:g.108773717G>A						MORC1_ENST00000483760.1_Silent_p.G396G	p.G396G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1270	-			396						Silent	SNP	ENST00000483760.1	37	c.1188C>T																																																																																					0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			63	102	0	0	0	1	0	63	102				
RER1	11079	broad.mit.edu	37	1	2334543	2334543	+	Missense_Mutation	SNP	G	G	A	rs201770326		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:2334543G>A	ENST00000605895.1	+	7	704	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RER1_ENST00000488353.1_Missense_Mutation_p.G191S|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	191				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGAGGATGCCGGCAAGGCCTT	0.498																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(571-573)Ggc>Agc		retention in endoplasmic reticulum sorting receptor 1							95.0	95.0	95.0					1																	2334543		2077	4198	6275	SO:0001583	missense	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334543G>A	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.571G>A	1.37:g.2334543G>A	ENSP00000475168:p.Gly191Ser					RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S	p.G191S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	7	704	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	191	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.571G>A	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040667	0.55003	.	.	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.52	4.62	0.57501	.	0.230519	0.44483	N	0.000446	T	0.48624	0.1510	L	0.29908	0.895	0.80722	D	1	B	0.30511	0.282	B	0.37267	0.245	T	0.39583	-0.9607	9	0.23302	T	0.38	.	13.7035	0.62624	0.0739:0.0:0.9261:0.0	.	191	O15258	RER1_HUMAN	S	191	.	ENSP00000302088:G191S	G	+	1	0	RER1	2324403	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	6.934000	0.75880	1.354000	0.45846	-0.213000	0.12676	GGC		0.498	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			4	156	0	0	0	1	0	4	156				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	281	0	0	0	1	0	7	281				
PRG4	10216	broad.mit.edu	37	1	186277784	186277784	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:186277784C>T	ENST00000445192.2	+	7	2978	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	PRG4_ENST00000367484.3_Missense_Mutation_p.T507I|PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I|PRG4_ENST00000367486.3_Missense_Mutation_p.T935I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	978					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACTCTTAAAACAACTACTCTT	0.353																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2932-2934)aCa>aTa		proteoglycan 4							189.0	207.0	201.0					1																	186277784		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277784C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2933C>T	1.37:g.186277784C>T	ENSP00000399679:p.Thr978Ile					PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I|PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I	p.T978I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2978	+			978					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2933C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190993	0.09547	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05855	3.38;3.53;3.52;3.41;3.49	3.54	1.51	0.23008	.	1.692010	0.03733	U	0.253796	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29552	0.248;0.103;0.139;0.218	B;B;B;B	0.22386	0.025;0.025;0.017;0.039	T	0.38672	-0.9650	10	0.36615	T	0.2	-0.6077	5.2607	0.15571	0.2252:0.6653:0.0:0.1095	.	844;885;978;937	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	I	935;507;844;937;885;978	ENSP00000356456:T935I;ENSP00000356454:T507I;ENSP00000356453:T937I;ENSP00000356455:T885I;ENSP00000399679:T978I	ENSP00000356452:T844I	T	+	2	0	PRG4	184544407	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.252000	0.18278	0.096000	0.17463	0.485000	0.47835	ACA		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		122	179	0	0	0	1	0	122	179				
PLEKHA8	84725	broad.mit.edu	37	7	30085837	30085837	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr7:30085837G>C	ENST00000449726.1	+	3	519	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCATTCTGTAGATAATACACG	0.517																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(169-171)Gat>Cat		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							101.0	98.0	99.0					7																	30085837		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30085837G>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.169G>C	7.37:g.30085837G>C	ENSP00000397947:p.Asp57His					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR	p.D57H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			3	519	+			57			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.169G>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682881	0.88542	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92382	0.5914	10	0.87932	D	0	-12.2694	17.7947	0.88566	0.0:0.0:1.0:0.0	.	57;57;57	Q96JA3-2;Q96JA3-3;B4DH00	.;.;.	H	57;57;57;57;83	ENSP00000258679:D57H;ENSP00000397947:D57H;ENSP00000379556:D57H;ENSP00000379558:D57H;ENSP00000407802:D83H	ENSP00000258679:D57H	D	+	1	0	PLEKHA8	30052362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.971000	0.88012	2.536000	0.85505	0.655000	0.94253	GAT		0.517	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		108	132	0	0	0	1	0	108	132				
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:88911830C>A	ENST00000298784.1	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.T240K	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			2	Substitution - Missense(2)	p.T240K(2)	large_intestine(1)|kidney(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(718-720)aCa>aAa		family with sequence similarity 35, member A							30.0	30.0	30.0					10																	88911830		2203	4295	6498	SO:0001583	missense	54537							g.chr10:88911830C>A	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.719C>A	10.37:g.88911830C>A	ENSP00000298784:p.Thr240Lys					FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K	p.T240K			Q86V20	FA35A_HUMAN			3	833	+			240					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.719C>A	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.071539	0.55646	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.27104	1.7;1.69;1.69	4.09	3.09	0.35607	.	0.289768	0.25801	N	0.028214	T	0.45716	0.1356	.	.	.	0.34044	D	0.655393	D	0.63046	0.992	D	0.65573	0.936	T	0.61700	-0.7009	9	0.59425	D	0.04	-9.6069	12.3445	0.55114	0.0:0.9021:0.0:0.0979	.	240	Q86V20	FA35A_HUMAN	K	240	ENSP00000298786:T240K;ENSP00000298784:T240K;ENSP00000351064:T240K	ENSP00000298784:T240K	T	+	2	0	FAM35A	88901810	1.000000	0.71417	0.665000	0.29768	0.884000	0.51177	2.667000	0.46808	2.134000	0.65973	0.537000	0.68136	ACA		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		4	127	1	0	1	1	1	4	127				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			74	99	0	0	0	1	0	74	99				
CLCN4	1183	broad.mit.edu	37	X	10181805	10181805	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:10181805C>T	ENST00000380833.4	+	11	2052	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V|AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	554					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCCTGATGGCGGCGGCTGTG	0.537																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1660-1662)gCg>gTg		chloride channel, voltage-sensitive 4							95.0	84.0	88.0					X																	10181805		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10181805C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1661C>T	X.37:g.10181805C>T	ENSP00000370213:p.Ala554Val					CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V	p.A554V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			11	2052	+			554					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1661C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322661	0.23994	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93488	-3.23;-3.23;-3.23	5.4	5.4	0.78164	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	N	0.05259	-0.085	0.80722	D	1	B	0.18610	0.029	B	0.16722	0.016	T	0.80959	-0.1149	10	0.13108	T	0.6	-20.361	18.3217	0.90241	0.0:1.0:0.0:0.0	.	554	P51793	CLCN4_HUMAN	V	554;523;460	ENSP00000370213:A554V;ENSP00000370209:A523V;ENSP00000405754:A460V	ENSP00000370209:A523V	A	+	2	0	CLCN4	10141805	1.000000	0.71417	0.950000	0.38849	0.233000	0.25261	5.910000	0.69931	2.267000	0.75376	0.600000	0.82982	GCG		0.537	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			75	127	0	0	0	1	0	75	127				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	23	0	0	0	1	0	7	23				
SLC22A9	114571	broad.mit.edu	37	11	63149682	63149682	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:63149682C>A	ENST00000279178.3	+	6	1255	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	336					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAAAAAACCTTCTCTGTG	0.388																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1006-1008)Cct>Act		solute carrier family 22 (organic anion transporter), member 9							154.0	144.0	147.0					11																	63149682		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63149682C>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1006C>A	11.37:g.63149682C>A	ENSP00000279178:p.Pro336Thr					SLC22A9_ENST00000310969.4_3'UTR	p.P336T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1255	+			336					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1006C>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	9.407	1.079576	0.20309	.	.	ENSG00000149742	ENST00000279178	T	0.56103	0.48	3.53	1.48	0.22813	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.609530	0.16559	U	0.209131	T	0.36580	0.0972	N	0.02266	-0.62	0.09310	N	1	D	0.67145	0.996	D	0.64687	0.928	T	0.13845	-1.0494	10	0.25751	T	0.34	.	4.3867	0.11319	0.0:0.5323:0.33:0.1378	.	336	Q8IVM8	S22A9_HUMAN	T	336	ENSP00000279178:P336T	ENSP00000279178:P336T	P	+	1	0	SLC22A9	62906258	0.000000	0.05858	0.020000	0.16555	0.526000	0.34562	-2.223000	0.01214	0.756000	0.33013	0.134000	0.15878	CCT		0.388	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		6	369	1	0	0.0381472	1	0.0402665	6	369				
FLG2	388698	broad.mit.edu	37	1	152324784	152324784	+	Silent	SNP	G	G	A	rs557753791		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:152324784G>A	ENST00000388718.5	-	3	5550	c.5478C>T	c.(5476-5478)caC>caT	p.H1826H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1826					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTGGCCGTGAGTGTGTC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		28677	0.0		0.0	False		,,,				2504	0.001					ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5476-5478)caC>caT		filaggrin family member 2							302.0	267.0	279.0					1																	152324784		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324784G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5478C>T	1.37:g.152324784G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1826H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5550	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1826					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5478C>T	CCDS30861.1																																																																																				0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		244	239	0	0	0	1	0	244	239				
TLN2	83660	broad.mit.edu	37	15	63092622	63092622	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr15:63092622G>T	ENST00000561311.1	+	48	6520	c.6290G>T	c.(6289-6291)aGt>aTt	p.S2097I	TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I			Q9Y4G6	TLN2_HUMAN	talin 2	2097					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATCTCATCAGTGCTACCAAG	0.552																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(6289-6291)aGt>aTt		talin 2							90.0	89.0	89.0					15																	63092622		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63092622G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6290G>T	15.37:g.63092622G>T	ENSP00000453508:p.Ser2097Ile					TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I	p.S2097I			Q9Y4G6	TLN2_HUMAN			48	6520	+			2097					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6290G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446663	0.63178	.	.	ENSG00000171914	ENST00000306829	T	0.13778	2.56	5.8	5.8	0.92144	.	0.191426	0.56097	D	0.000029	T	0.14570	0.0352	L	0.51422	1.61	0.33219	D	0.554382	P	0.38020	0.615	B	0.35813	0.211	T	0.12708	-1.0537	10	0.39692	T	0.17	-12.2146	13.2885	0.60258	0.072:0.0:0.928:0.0	.	2097	Q9Y4G6	TLN2_HUMAN	I	2097	ENSP00000303476:S2097I	ENSP00000303476:S2097I	S	+	2	0	TLN2	60879675	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.008000	0.88588	2.744000	0.94065	0.655000	0.94253	AGT		0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	229	1	0	0.0293803	1	0.0315977	7	229				
TP53	7157	broad.mit.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:7579361A>G	ENST00000269305.4	-	4	515	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000420246.2_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCAGACGGAAACCGTAGCT	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(325-327)tTc>tCc	Other conserved DNA damage response genes	tumor protein p53							62.0	59.0	60.0					17																	7579361		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579361A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.326T>C	17.37:g.7579361A>G	ENSP00000269305:p.Phe109Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S	p.F109S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	458	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	109		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.326T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433503	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47009	D	0.999288	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.999;0.999;0.999;0.999;0.997	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	109	ENSP00000410739:F109S;ENSP00000352610:F109S;ENSP00000269305:F109S;ENSP00000398846:F109S;ENSP00000391127:F109S;ENSP00000391478:F109S;ENSP00000424104:F109S;ENSP00000426252:F109S	ENSP00000269305:F109S	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		118	14	0	0	0	1	0	118	14				
EPB41L3	23136	broad.mit.edu	37	18	5428387	5428387	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr18:5428387G>C	ENST00000341928.2	-	9	1330	c.990C>G	c.(988-990)aaC>aaG	p.N330K	EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K|EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	330	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGGCAAATCTGTTTATTCGCA	0.428																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(988-990)aaC>aaG		erythrocyte membrane protein band 4.1-like 3							146.0	148.0	147.0					18																	5428387		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428387G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.990C>G	18.37:g.5428387G>C	ENSP00000343158:p.Asn330Lys					EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K	p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1330	-			330			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.990C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149061	0.78001	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.45	3.58	0.41010	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.041333	0.85682	D	0.000000	D	0.92004	0.7467	M	0.93550	3.43	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.986;1.0;1.0	D;D;P;D;D	0.83275	0.995;0.993;0.827;0.995;0.996	D	0.92156	0.5732	10	0.87932	D	0	.	8.9946	0.36043	0.2611:0.0:0.7389:0.0	.	330;330;221;330;330	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	K	330;221;330;221;330;330	ENSP00000343158:N330K;ENSP00000441174:N330K;ENSP00000341138:N330K;ENSP00000382981:N330K	ENSP00000343158:N330K	N	-	3	2	EPB41L3	5418387	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.148000	0.42235	1.207000	0.43291	0.655000	0.94253	AAC		0.428	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		10	320	0	0	0	1	0	10	320				
MDC1	9656	broad.mit.edu	37	6	30668317	30668317	+	Silent	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:30668317C>A	ENST00000376406.3	-	15	6842	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L1801L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2065	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTCCAGTCAGCAGGAACTCAG	0.572								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6193-6195)ctG>ctT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							133.0	126.0	128.0					6																	30668317		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30668317C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.6195G>T	6.37:g.30668317C>A						MDC1_ENST00000376405.2_Silent_p.L1801L	p.L2065L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			15	6842	-			2065			BRCT 2.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.6195G>T	CCDS34384.1																																																																																				0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		87	170	1	0	2.38877e-28	1	2.89702e-28	87	170				
IGFALS	3483	broad.mit.edu	37	16	1838702	1838702	+	IGR	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:1838702C>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E|NUBP2_ENST00000262302.9_Missense_Mutation_p.A268E|NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCGACGCCCGCGTGCCTCCCC	0.652																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(802-804)gCg>gAg		nucleotide binding protein 2							28.0	27.0	27.0					16																	1838702		2197	4296	6493	SO:0001628	intergenic_variant	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1838702C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838702C>A						NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E	p.A268E	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			7	923	+			268					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.803C>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699922	0.48307	.	.	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.22539	2.24;1.95	4.97	3.0	0.34707	.	0.936173	0.08997	N	0.863535	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	1	P	0.48764	0.915	P	0.46543	0.52	T	0.09037	-1.0693	10	0.10902	T	0.67	-9.9788	9.8274	0.40921	0.0:0.8271:0.0:0.1729	.	268	Q9Y5Y2	NUBP2_HUMAN	E	268;127	ENSP00000262302:A268E;ENSP00000437763:A127E	ENSP00000262302:A268E	A	+	2	0	NUBP2	1778703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.170000	0.16663	0.499000	0.27970	-0.143000	0.13931	GCG		0.652	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			3	53	1	0	1	1	1	3	53				
HSP90AB2P	391634	broad.mit.edu	37	4	13338289	13338289	+	RNA	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:13338289C>A	ENST00000602906.1	+	0	307							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						CCTAACAGACCCTTCCAAGTT	0.433																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13338289C>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338289C>A														0	307	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.433	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			35	101	1	0	7.11191e-15	1	8.44539e-15	35	101				
SLC16A1	6566	broad.mit.edu	37	1	113460447	113460447	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:113460447A>G	ENST00000538576.1	-	4	1412	c.581T>C	c.(580-582)cTc>cCc	p.L194P	SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TGGTCGCATGAGGGCTCCAGC	0.488																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(580-582)cTc>cCc		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						78.0	78.0	78.0					1																	113460447		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460447A>G	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.581T>C	1.37:g.113460447A>G	ENSP00000441065:p.Leu194Pro					SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P	p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1412	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	194					Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.581T>C	CCDS858.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274259	0.80580	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89631	0.3855	10	0.87932	D	0	.	16.0039	0.80344	1.0:0.0:0.0:0.0	.	194;194	Q49A45;P53985	.;MOT1_HUMAN	P	194	ENSP00000358640:L194P;ENSP00000441065:L194P;ENSP00000416167:L194P;ENSP00000445061:L194P;ENSP00000399104:L194P;ENSP00000397106:L194P	ENSP00000358640:L194P	L	-	2	0	SLC16A1	113261970	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.276000	0.95745	2.317000	0.78254	0.460000	0.39030	CTC		0.488	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		4	168	0	0	0	1	0	4	168				
SMG6	23293	broad.mit.edu	37	17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:2202239C>T	ENST00000263073.6	-	2	1858	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SMG6_ENST00000544865.1_Missense_Mutation_p.R572H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGACTGATGCGGTCCCTGGA	0.582																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1714-1716)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							160.0	157.0	158.0					17																	2202239		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202239C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1808G>A	17.37:g.2202239C>T	ENSP00000263073:p.Arg603His					SMG6_ENST00000263073.5_Missense_Mutation_p.R603H	p.R572H			Q86US8	EST1A_HUMAN			2	2225	-			603					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1715G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773612	0.49786	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.17528	2.27;2.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.29908	0.895	0.52501	D	0.999958	D	0.89917	1.0	D	0.64506	0.926	T	0.00995	-1.1487	10	0.41790	T	0.15	-4.8096	19.7468	0.96255	0.0:1.0:0.0:0.0	.	603	Q86US8	EST1A_HUMAN	H	603;572	ENSP00000263073:R603H;ENSP00000443920:R572H	ENSP00000263073:R603H	R	-	2	0	SMG6	2148989	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.551000	0.60740	2.731000	0.93534	0.650000	0.86243	CGC		0.582	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			6	479	0	0	0	1	0	6	479				
PCDHB6	56130	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1444-1446)Gcc>Acc									104.0	113.0	110.0					5																	140531282		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531282G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1444G>A	5.37:g.140531282G>A	ENSP00000231136:p.Ala482Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1444	+			482			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1444G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871566	0.91587	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52295	0.67;0.67	4.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73666	0.3616	M	0.90814	3.15	0.42575	D	0.993193	D	0.76494	0.999	D	0.68353	0.957	T	0.82086	-0.0631	9	0.87932	D	0	.	17.1391	0.86748	0.0:0.0:1.0:0.0	.	482	Q9Y5E3	PCDB6_HUMAN	T	346;482;267	ENSP00000438466:A346T;ENSP00000231136:A482T	ENSP00000231136:A482T	A	+	1	0	PCDHB6	140511466	0.979000	0.34478	1.000000	0.80357	0.944000	0.59088	5.595000	0.67563	2.095000	0.63458	0.556000	0.70494	GCC		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		184	225	0	0	0	1	0	184	225				
CTC-260E6.6	0	broad.mit.edu	37	19	20370088	20370088	+	RNA	SNP	G	G	A	rs186031755		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:20370088G>A	ENST00000593655.1	-	0	199																											GACCCATCCCGCAGAAAGCAC	0.413																																						ENST00000593655.1																			0																																																			0							g.chr19:20370088G>A																													19.37:g.20370088G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			4	101	0	0	0	1	0	4	101				
MCF2	4168	broad.mit.edu	37	X	138697040	138697040	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:138697040C>A	ENST00000370576.4	-	10	1572	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	MCF2_ENST00000414978.1_Splice_Site_p.G515W|MCF2_ENST00000519895.1_Splice_Site_p.V515L|MCF2_ENST00000370573.4_Splice_Site_p.G455W|MCF2_ENST00000370578.4_Splice_Site_p.G600W|MCF2_ENST00000536274.1_Splice_Site_p.G416W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000338585.6_Splice_Site_p.V455L|MCF2_ENST00000520602.1_Splice_Site_p.G515W	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	455					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GACATTTTACCTTGTTTAGAT	0.363																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.e13+1		MCF.2 cell line derived transforming sequence							116.0	113.0	114.0					X																	138697040		2203	4300	6503	SO:0001630	splice_region_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138697040C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1G>T	X.37:g.138697040C>A						MCF2_ENST00000536274.1_Splice_Site_p.G416_splice|MCF2_ENST00000414978.1_Splice_Site_p.G515_splice|MCF2_ENST00000370578.4_Splice_Site_p.G600_splice|MCF2_ENST00000370576.4_Splice_Site_p.G455_splice|MCF2_ENST00000519895.1_Splice_Site_p.V515_splice|MCF2_ENST00000370573.4_Splice_Site_p.G455_splice|MCF2_ENST00000338585.6_Splice_Site_p.V455_splice|MCF2_ENST00000483690.1_5'UTR	p.G515_splice			P10911	MCF2_HUMAN			13	1828	-	Acute lymphoblastic leukemia(192;0.000127)		455			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Splice_Site	SNP	ENST00000370576.4	37	c.1543_splice	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.78|16.78	3.216748|3.216748	0.58452|0.58452	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000370573|ENST00000519895;ENST00000338585	T;T;T;T;T;T;T|T;T	0.52057|0.35048	1.23;1.12;1.02;1.22;1.23;0.68;1.14|1.43;1.33	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.205916|.	0.50627|.	D|.	0.000102|.	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.36672|0.36672	1.1|1.1	0.40018|0.40018	D|D	0.97537|0.97537	D;D;D;D;D|B;D	0.89917|0.61697	1.0;0.989;0.989;0.981;0.981|0.003;0.99	D;P;P;P;P|B;D	0.79108|0.72625	0.992;0.818;0.879;0.76;0.874|0.004;0.978	T|T	0.43180|0.43180	-0.9407|-0.9407	9|8	.|.	.|.	.|.	.|.	17.291|17.291	0.87156|0.87156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;416;455;600;455|515;455	B7Z3Z2;F5H091;P10911-2;Q5JYJ7;P10911|E9PH77;P10911-4	.;.;.;.;MCF2_HUMAN|.;.	W|L	515;455;416;600;515;58;455|515;455	ENSP00000427745:G515W;ENSP00000359608:G455W;ENSP00000438155:G416W;ENSP00000359610:G600W;ENSP00000397055:G515W;ENSP00000405848:G58W;ENSP00000359605:G455W|ENSP00000430276:V515L;ENSP00000342204:V455L	.|.	G|V	-|-	1|1	0|0	MCF2|MCF2	138524706|138524706	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.537000|0.537000	0.34900|0.34900	5.488000|5.488000	0.66869|0.66869	2.400000|2.400000	0.81607|0.81607	0.600000|0.600000	0.82982|0.82982	GGG|GTG		0.363	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	Missense_Mutation	5	277	1	0	0.184627	1	0.191341	5	277				
EMID1	129080	broad.mit.edu	37	22	29629640	29629640	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:29629640G>A	ENST00000404820.3	+	10	1078	c.951G>A	c.(949-951)ggG>ggA	p.G317G	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000334018.6_Silent_p.G317G			Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GTGTCCCTGGGAGTCCTGGTC	0.522																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(949-951)ggG>ggA		EMI domain containing 1							146.0	123.0	130.0					22																	29629640		2203	4300	6503	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29629640G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.951G>A	22.37:g.29629640G>A						EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G	p.G317G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			10	1139	+			315			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.951G>A		.	.	.	.	.	.	.	.	.	.	G	9.827	1.187459	0.21870	.	.	ENSG00000186998	ENST00000433143	D	0.99353	-5.77	5.31	-0.187	0.13268	.	0.968910	0.08419	N	0.948659	D	0.98779	0.9589	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96704	0.9520	7	0.87932	D	0	-8.6171	8.6635	0.34108	0.0997:0.4483:0.452:0.0	.	.	.	.	E	180	ENSP00000408339:G180E	ENSP00000408339:G180E	G	+	2	0	EMID1	27959640	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.698000	0.25571	0.161000	0.19458	-0.264000	0.10439	GGA		0.522	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		25	46	0	0	0	1	0	25	46				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	281	0	0	0	1	0	7	281				
OR4C13	283092	broad.mit.edu	37	11	49974720	49974720	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974720T>A	ENST00000555099.1	+	1	778	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCTTATCCTTTATACCCTGC	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(745-747)tTt>tAt		olfactory receptor, family 4, subfamily C, member 13							179.0	160.0	166.0					11																	49974720		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974720T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.746T>A	11.37:g.49974720T>A	ENSP00000452277:p.Phe249Tyr						p.F249Y	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	778	+			249					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.746T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.303	1.053676	0.19907	.	.	ENSG00000258817	ENST00000555099	T	0.53206	0.63	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000202	T	0.43500	0.1250	N	0.13043	0.29	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.13388	-1.0511	9	.	.	.	.	5.4092	0.16339	0.2513:0.0:0.0:0.7486	.	249	Q8NGP0	OR4CD_HUMAN	Y	249	ENSP00000452277:F249Y	.	F	+	2	0	OR4C13	49931296	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	0.090000	0.15025	1.342000	0.45619	0.156000	0.16432	TTT		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		138	200	0	0	0	1	0	138	200				
ITGAL	3683	broad.mit.edu	37	16	30505561	30505561	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:30505561G>A	ENST00000356798.6	+	12	1422	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	414					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGCCCTCCCGGCAAAAGACTT	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1240-1242)cgG>cgA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						59.0	61.0	60.0					16																	30505561		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30505561G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1242G>A	16.37:g.30505561G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000568012.1_3'UTR	p.R414R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			12	1422	+			414					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1242G>A	CCDS32433.1																																																																																				0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			6	157	0	0	0	1	0	6	157				
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:104062907C>A	ENST00000265148.3	-	35	5552	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.e35+1		centromere protein E, 312kDa							67.0	64.0	65.0					4																	104062907		2202	4298	6500	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062907C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5463+1G>T	4.37:g.104062907C>A						CENPE_ENST00000380026.3_Splice_Site_p.K1796_splice	p.K1821_splice	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5552	-			1821					A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.5463_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965315	0.53507	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.01	4.01	0.46588	.	.	.	.	.	D	0.82323	0.5012	M	0.78801	2.425	0.36532	D	0.870793	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.94	D	0.85866	0.1413	8	.	.	.	.	11.5291	0.50597	0.0:1.0:0.0:0.0	.	1796;1821	Q02224-3;Q02224	.;CENPE_HUMAN	N	1821;1821;1796	ENSP00000265148:K1821N;ENSP00000369365:K1796N	.	K	-	3	2	CENPE	104282356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.531000	0.53546	2.069000	0.61940	0.643000	0.83706	AAG		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	7	103	1	0	0.0293803	1	0.0315977	7	103				
TPTE	7179	broad.mit.edu	37	21	10941931	10941931	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:10941931A>T	ENST00000361285.4	-	14	1101	c.772T>A	c.(772-774)Tct>Act	p.S258T	TPTE_ENST00000298232.7_Missense_Mutation_p.S240T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGAAAGACTGCCTTCCA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(718-720)Tct>Act		transmembrane phosphatase with tensin homology							219.0	212.0	214.0					21																	10941931		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10941931A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.772T>A	21.37:g.10941931A>T	ENSP00000355208:p.Ser258Thr					TPTE_ENST00000361285.4_Missense_Mutation_p.S258T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T	p.S240T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1085	-			258			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.718T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.991	-0.004425	0.07773	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98474	-4.95;-4.95;-4.95	1.8	0.49	0.16861	Phosphatase tensin type (1);	0.133611	0.52532	U	0.000075	D	0.96414	0.8830	M	0.78801	2.425	0.39718	D	0.971435	P;P;B	0.40794	0.544;0.729;0.404	B;B;B	0.40009	0.316;0.316;0.118	D	0.92759	0.6222	10	0.52906	T	0.07	-16.5856	5.1734	0.15122	0.7406:0.0:0.0:0.2594	.	220;240;258	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	240;258;220	ENSP00000298232:S240T;ENSP00000355208:S258T;ENSP00000344441:S220T	ENSP00000298232:S240T	S	-	1	0	TPTE	9963802	1.000000	0.71417	0.251000	0.24312	0.097000	0.18754	2.071000	0.41500	0.121000	0.18284	0.163000	0.16589	TCT		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	560	0	0	0	1	0	5	560				
CELA3A	10136	broad.mit.edu	37	1	22336270	22336270	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:22336270G>C	ENST00000290122.3	+	7	734	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(715-717)Gtt>Ctt		chymotrypsin-like elastase family, member 3A							82.0	71.0	74.0					1																	22336270		2197	4300	6497	SO:0001583	missense	10136							g.chr1:22336270G>C	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.715G>C	1.37:g.22336270G>C	ENSP00000290122:p.Val239Leu						p.V239L	NM_005747.4	NP_005738.4					7	734	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.715G>C	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228501	0.58777	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.16897	2.31;2.31	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.28267	0.0698	L	0.45137	1.4	0.80722	D	1	D	0.54772	0.968	P	0.59761	0.863	T	0.01762	-1.1279	9	0.48119	T	0.1	-4.061	12.8948	0.58093	0.0:0.0:1.0:0.0	.	239	P09093	CEL3A_HUMAN	L	239;47	ENSP00000290122:V239L;ENSP00000383130:V47L	ENSP00000290122:V239L	V	+	1	0	CELA3A	22208857	1.000000	0.71417	0.152000	0.22495	0.512000	0.34134	9.349000	0.97066	1.856000	0.53863	0.455000	0.32223	GTT		0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		3	86	0	0	0	1	0	3	86				
TFAP2D	83741	broad.mit.edu	37	6	50682829	50682829	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:50682829A>G	ENST00000008391.3	+	2	268	c.40A>G	c.(40-42)Ata>Gta	p.I14V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCCTTCCAGATACGTCACGA	0.527																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.e2-1		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							94.0	80.0	85.0					6																	50682829		2203	4300	6503	SO:0001630	splice_region_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50682829A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.40-1A>G	6.37:g.50682829A>G							p.I14_splice	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	268	+	Lung NSC(77;0.0334)		14						Splice_Site	SNP	ENST00000008391.3	37	c.39_splice	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651415	0.47362	.	.	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	N	0.08118	0	0.80722	D	1	B	0.22800	0.075	B	0.20384	0.029	D	0.84795	0.0781	9	.	.	.	-1.9143	15.9173	0.79531	1.0:0.0:0.0:0.0	.	14	Q7Z6R9	AP2D_HUMAN	V	14	ENSP00000008391:I14V	.	I	+	1	0	TFAP2D	50790788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.261000	0.95576	2.161000	0.67846	0.533000	0.62120	ATA		0.527	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	Missense_Mutation	6	172	0	0	0	1	0	6	172				
OR10W1	81341	broad.mit.edu	37	11	58034747	58034747	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:58034747A>T	ENST00000395079.2	-	1	985	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AATGGCTAGTATGGCTGCCAC	0.547																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(583-585)aTa>aAa		olfactory receptor, family 10, subfamily W, member 1							98.0	80.0	86.0					11																	58034747		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034747A>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.584T>A	11.37:g.58034747A>T	ENSP00000378516:p.Ile195Lys						p.I195K	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	985	-		Breast(21;0.0589)	195					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.584T>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	A	9.637	1.137872	0.21123	.	.	ENSG00000172772	ENST00000395079	T	0.41065	1.01	5.34	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.411941	0.20781	N	0.085792	T	0.45216	0.1331	M	0.90922	3.16	0.09310	N	1	B	0.24768	0.111	B	0.18871	0.023	T	0.50808	-0.8784	10	0.87932	D	0	.	4.7388	0.13003	0.3855:0.1513:0.4632:0.0	.	195	Q8NGF6	O10W1_HUMAN	K	195	ENSP00000378516:I195K	ENSP00000378516:I195K	I	-	2	0	OR10W1	57791323	0.000000	0.05858	0.156000	0.22583	0.496000	0.33645	0.052000	0.14163	0.377000	0.24735	-0.177000	0.13119	ATA		0.547	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		36	36	0	0	0	1	0	36	36				
PTH1R	5745	broad.mit.edu	37	3	46944925	46944925	+	Missense_Mutation	SNP	C	C	T	rs200304786		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:46944925C>T	ENST00000313049.5	+	14	1764	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	PTH1R_ENST00000449590.1_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	521					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCTCAGCCCCCGCCTACTGCC	0.682																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1561-1563)Cgc>Tgc		parathyroid hormone 1 receptor							48.0	43.0	45.0					3																	46944925		2202	4299	6501	SO:0001583	missense	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944925C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1561C>T	3.37:g.46944925C>T	ENSP00000321999:p.Arg521Cys					PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000449590.1_Missense_Mutation_p.R521C	p.R521C			Q03431	PTH1R_HUMAN			14	1764	+			521					Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1561C>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895181	0.72639	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.1	4.23	0.50019	.	.	.	.	.	T	0.77718	0.4172	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.78617	-0.2134	9	0.66056	D	0.02	.	8.7174	0.34419	0.1594:0.7596:0.0:0.081	.	521	Q03431	PTH1R_HUMAN	C	521;521;521;521;521;826;110	ENSP00000402723:R521C;ENSP00000411424:R521C;ENSP00000400977:R521C;ENSP00000413774:R521C;ENSP00000321999:R521C;ENSP00000396176:R110C	ENSP00000321999:R521C	R	+	1	0	PTH1R	46919929	0.995000	0.38212	1.000000	0.80357	0.905000	0.53344	2.623000	0.46435	1.525000	0.49052	0.563000	0.77884	CGC		0.682	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		50	60	0	0	0	1	0	50	60				
DFNB59	494513	broad.mit.edu	37	2	179319178	179319178	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:179319178G>A	ENST00000409117.3	+	3	687	c.331G>A	c.(331-333)Gca>Aca	p.A111T	DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T|PRKRA_ENST00000470200.1_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	111					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGATTCCATTGCAGTGAAAGC	0.348																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(331-333)Gca>Aca		deafness, autosomal recessive 59							83.0	82.0	83.0					2																	179319178		1898	4118	6016	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179319178G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.331G>A	2.37:g.179319178G>A	ENSP00000386647:p.Ala111Thr					DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T	p.A111T	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	687	+			111					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.331G>A	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905528|4.905528	0.92107|0.92107	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000409117;ENST00000375129|ENST00000442710	T;T|.	0.59083|.	0.29;0.29|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	1.848780|.	0.06180|.	U|.	0.679340|.	T|T	0.69006|0.69006	0.3063|0.3063	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.65573|.	0.936|.	T|T	0.62737|0.62737	-0.6791|-0.6791	10|5	0.17369|.	T|.	0.5|.	-9.9543|-9.9543	20.1421|20.1421	0.98061|0.98061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111|.	Q0ZLH3|.	PJVK_HUMAN|.	T|Y	111|58	ENSP00000386647:A111T;ENSP00000364271:A111T|.	ENSP00000364271:A111T|.	A|C	+|+	1|2	0|0	DFNB59|DFNB59	179027424|179027424	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	9.420000|9.420000	0.97426|0.97426	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			6	157	0	0	0	1	0	6	157				
GRB7	2886	broad.mit.edu	37	17	37902419	37902419	+	Silent	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:37902419C>T	ENST00000309156.4	+	14	1673	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309185.3_Missense_Mutation_p.A443V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587																																						ENST00000309185.3																			1	Substitution - coding silent(1)	p.C472C(1)	urinary_tract(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1327-1329)gCc>gTc		growth factor receptor-bound protein 7							148.0	134.0	139.0					17																	37902419		2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902419C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1416C>T	17.37:g.37902419C>T						GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309156.4_Silent_p.C472C	p.A443V			Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1578	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		0			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1328C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186042	0.78789	.	.	ENSG00000141738	ENST00000309185;ENST00000394204	T;T	0.56444	0.46;0.46	5.18	0.888	0.19206	.	.	.	.	.	T	0.41465	0.1160	.	.	.	0.24777	N	0.992835	B	0.12013	0.005	B	0.11329	0.006	T	0.40232	-0.9574	8	0.87932	D	0	-27.1618	9.4523	0.38734	0.0:0.6232:0.0:0.3768	.	443	Q14451-2	.	V	443	ENSP00000311752:A443V;ENSP00000377754:A443V	ENSP00000311752:A443V	A	+	2	0	GRB7	35155945	0.969000	0.33509	1.000000	0.80357	0.916000	0.54674	0.215000	0.17562	0.224000	0.20940	-0.974000	0.02594	GCC		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		5	237	0	0	0	1	0	5	237				
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	125						7	125	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G	rs201480883		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		catgcgcaacaggggactgtaa	0.366																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690462_195690463insG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690466_195690466dupG								NR_003264.2						0	2203	-									RNA	INS	ENST00000427841.1	37																																																																																						0.366	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102791660	102791661	+	Splice_Site	DEL	AG	AG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:102791660_102791661delAG	ENST00000322953.4	+	5	1037		c.e5-1		BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000504592.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTTTTTCATAAGAGTTTCCTGC	0.342																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.e9-1		B-cell scaffold protein with ankyrin repeats 1																																				SO:0001630	splice_region_variant	55024				B cell activation			g.chr4:102791660_102791661delAG	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.764-1AG>-	4.37:g.102791662_102791663delAG						BANK1_ENST00000322953.4_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site				Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1136	+		Hepatocellular(203;0.217)						A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Splice_Site	DEL	ENST00000322953.4	37		CCDS34038.1																																																																																				0.342	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	Intron	87	107						87	107	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.660	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	146						7	146	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170115929	170115930	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:170115929_170115930delTC	ENST00000339209.4	-	6	690_691	c.567_568delGA	c.(565-570)cagaaafs	p.K190fs	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Frame_Shift_Del_p.K188fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	190	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GCTTCAACTTTCTGAGTATTCT	0.351																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(565-570)caaafs		PHD finger protein 10																																				SO:0001589	frameshift_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170115929_170115930delTC	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.567_568delGA	6.37:g.170115929_170115930delTC	ENSP00000341805:p.Lys190fs					PHF10_ENST00000366780.4_Frame_Shift_Del_p.QK187fs	p.QK189fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	6	690_691	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	189			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Frame_Shift_Del	DEL	ENST00000339209.4	37	c.567_568delGA	CCDS5308.2																																																																																				0.351	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		66	22						66	22	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)acfs		tripartite motif containing 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	672	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		8	656						8	656	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		7	285						7	285	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			4	7						4	7	---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Intron	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs377640443|rs562885075|rs542695980|rs113299196|rs7410276|rs12160965|rs371945800|rs386822607|rs386822606|rs564615833|rs368043307|rs71805922|rs386822608|rs73891177|rs553609580	byFrequency	TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000328268.4	+	6	666				CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000404488.3_Splice_Site_p.PQQSGPASPI198fs	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.e6-1		cysteine-rich with EGF-like domains 2			,	660,2750		176,308,1221					,	-1.2	0.0		dbSNP_130	26	366,6880		58,250,3315	no	intron,frameshift-near-splice	CRELD2	NM_024324.3,NM_001135101.1	,	234,558,4536	A1A1,A1R,RR		5.0511,19.3548,9.6284	,	,		1026,9630				SO:0001627	intron_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-287CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	22.37:g.50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG						CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron	p.198_splice	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	6	727_756	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	197					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Splice_Site	DEL	ENST00000328268.4	37	c.592_splice	CCDS14082.1																																																																																				0.622	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		3	6						3	6	---	---	---	---
