#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
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372583.1	-	8	7115	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6229-6231)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 3							33.0	30.0	31.0					1																	41978662		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978662G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6230C>T	1.37:g.41978662G>A	ENSP00000361664:p.Ala2077Val					HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR	p.A2077V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7244	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2077			6 X 4 AA tandem repeats of S-P-X-[RK].		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6230C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570604	0.86542	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.65	4.65	0.58169	.	0.465044	0.18293	N	0.145668	T	0.05960	0.0155	N	0.24115	0.695	0.38023	D	0.934924	P;P	0.40731	0.728;0.608	B;B	0.36186	0.219;0.109	T	0.49263	-0.8958	10	0.40728	T	0.16	-3.7875	17.4682	0.87639	0.0:0.0:1.0:0.0	.	2077;2077	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2077	ENSP00000361665:A2077V;ENSP00000361664:A2077V;ENSP00000247584:A2077V;ENSP00000410828:A2077V	ENSP00000247584:A2077V	A	-	2	0	HIVEP3	41751249	0.995000	0.38212	0.997000	0.53966	0.977000	0.68977	3.387000	0.52501	2.267000	0.75376	0.655000	0.94253	GCC		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	43	0	0	0	0.004672	0	3	43				
PCDHA4	56144	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313																																						ENST00000530339.1																			1	Substitution - Missense(1)	p.S286L(1)	ovary(1)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(856-858)tCg>tTg									64.0	69.0	67.0					5																	140187629		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187629C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.857C>T	5.37:g.140187629C>T	ENSP00000435300:p.Ser286Leu					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L	p.S286L	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	857	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.857C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	2.680	-0.275652	0.05679	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64991	-0.13;-0.13;-0.13	4.34	2.27	0.28462	Cadherin (4);Cadherin-like (1);	1.146100	0.06905	N	0.806657	T	0.53674	0.1811	L	0.49513	1.565	0.09310	N	1	B;B;B	0.26318	0.012;0.04;0.146	B;B;B	0.23419	0.008;0.028;0.046	T	0.44267	-0.9339	10	0.40728	T	0.16	.	5.1496	0.15002	0.1626:0.6295:0.0:0.2079	.	286;286;286	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	286	ENSP00000423470:S286L;ENSP00000349344:S286L;ENSP00000435300:S286L	ENSP00000349344:S286L	S	+	2	0	PCDHA4	140167813	0.000000	0.05858	0.036000	0.18154	0.041000	0.13682	-0.105000	0.10907	0.748000	0.32831	0.467000	0.42956	TCG		0.313	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	84	0	0	0	0.029380	0	7	84				
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(529-531)aCa>aAa		protein phosphatase 3, catalytic subunit, gamma isozyme							214.0	182.0	193.0					8																	22368644		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368644C>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.530C>A	8.37:g.22368644C>A	ENSP00000240139:p.Thr177Lys					PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	857	+		Prostate(55;0.104)	177					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.530C>A	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438428|4.438428	0.83885|0.83885	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05580	.|3.42;3.42;3.42;3.42;3.42	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.047960	.|0.85682	.|D	.|0.000000	T|T	0.19644|0.19644	0.0472|0.0472	M|M	0.87900|0.87900	2.915|2.915	0.53688|0.53688	D|D	0.999972|0.999972	.|P;P;P;B	.|0.37612	.|0.602;0.547;0.602;0.415	.|B;B;B;B	.|0.41571	.|0.222;0.36;0.222;0.142	T|T	0.00458|0.00458	-1.1727|-1.1727	5|10	.|0.87932	.|D	.|0	-15.5783|-15.5783	19.3283|19.3283	0.94273|0.94273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;177;177;177	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	N|K	27;54|177;177;177;177;3	.|ENSP00000429379:T177K;ENSP00000240139:T177K;ENSP00000289963:T177K;ENSP00000380878:T177K;ENSP00000430555:T3K	.|ENSP00000240139:T177K	H|T	+|+	1|2	0|0	PPP3CC|PPP3CC	22424589|22424589	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.383	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		5	122	1	0	0.000602214	0.014758	0.000789109	5	122				
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						ENST00000522353.2																			4	Substitution - Missense(4)	p.G97R(2)|p.G97W(2)	lung(4)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(289-291)Ggg>Cgg									129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R	p.G97R	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		7	346	0	0	0	0.069234	0	7	346				
IL2RB	3560	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1444-1446)Ctg>Ttg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						19.0	24.0	22.0					22																	37524348		2181	4251	6432	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524348G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1444C>T	22.37:g.37524348G>A							p.L482L	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1642	-			482					B2R765	Silent	SNP	ENST00000216223.5	37	c.1444C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			5	73	0	0	0	0.029380	0	5	73				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		5	29	0	0	0	0.080935	0	5	29				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	93	0	0	0	0.004672	0	3	93				
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.491T>G	c.(490-492)aTg>aGg	p.M164R		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.e5+1		calmodulin-lysine N-methyltransferase							165.0	149.0	154.0					2																	44933479		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44933479T>G		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.492+1T>G	2.37:g.44933479T>G							p.M164_splice	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			5	535	+			164					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37	c.492_splice	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578180	0.45902	.	.	ENSG00000143919	ENST00000378494	T	0.09817	2.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00617	-1.1642	10	0.42905	T	0.14	-12.4282	15.0951	0.72226	0.0:0.0:0.0:1.0	.	164	Q7Z624	CMKMT_HUMAN	R	164	ENSP00000367755:M164R	ENSP00000367755:M164R	M	+	2	0	CAMKMT	44786983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.135000	0.66039	0.533000	0.62120	ATG		0.483	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation	5	155	0	0	0	0.038147	0	5	155				
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			0				lung(3)	3						c.(331-333)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							56.0	55.0	55.0					9																	34343327		2203	4300	6503	SO:0001819	synonymous_variant	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343327C>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.333C>T	9.37:g.34343327C>T						NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	691	+			111			Nudix hydrolase.		D3DRM0|Q5T589	Silent	SNP	ENST00000379158.2	37	c.333C>T	CCDS6552.1																																																																																				0.557	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		4	94	0	0	0	0.009096	0	4	94				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	84	0	0	0	0.009096	0	4	84				
RDH10	157506	broad.mit.edu	37	8	74235228	74235228	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(982-984)aGa>aAa		retinol dehydrogenase 10 (all-trans)							65.0	59.0	61.0					8																	74235228		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74235228G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.983G>A	8.37:g.74235228G>A	ENSP00000240285:p.Arg328Lys					RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA	p.R328K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		6	1661	+	Breast(64;0.0954)		328						Missense_Mutation	SNP	ENST00000240285.5	37	c.983G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600327	0.28534	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.83837	-1.77;0.03	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.16201	0.385	0.49389	D	0.999784	B	0.18166	0.026	B	0.12837	0.008	T	0.65541	-0.6143	10	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	328	Q8IZV5	RDH10_HUMAN	K	328;163	ENSP00000240285:R328K;ENSP00000428132:R163K	ENSP00000240285:R328K	R	+	2	0	RDH10	74397782	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.743000	0.85020	2.894000	0.99253	0.591000	0.81541	AGA		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			6	43	0	0	0	0.038147	0	6	43				
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																						ENST00000400569.3																			1	Substitution - Missense(1)	p.R212K(1)	endometrium(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(634-636)aGg>aAg		myomesin 1							260.0	242.0	248.0					18																	3188882		2044	4187	6231	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188882C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys					MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K	p.R212K			P52179	MYOM1_HUMAN			4	968	-			212			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.635G>A	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	108	0	0	0	0.058154	0	6	108				
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(220-222)tCa>tTa		F-box protein 46							35.0	40.0	39.0					19																	46216533		2070	4200	6270	SO:0001583	missense	23403						protein binding	g.chr19:46216533G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.221C>T	19.37:g.46216533G>A	ENSP00000410007:p.Ser74Leu						p.S74L	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	354	-		Ovarian(192;0.179)|all_neural(266;0.224)	74						Missense_Mutation	SNP	ENST00000317683.3	37	c.221C>T	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516138	0.64634	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	T	0.44159	0.1280	N	0.08118	0	0.39131	D	0.961852	D	0.54207	0.965	P	0.55055	0.767	T	0.48399	-0.9039	8	0.41790	T	0.15	-13.2689	11.7008	0.51569	0.0:0.0:1.0:0.0	.	74	Q6PJ61	FBX46_HUMAN	L	74	.	ENSP00000410007:S74L	S	-	2	0	FBXO46	50908373	0.968000	0.33430	0.978000	0.43139	0.545000	0.35147	2.108000	0.41854	2.206000	0.71126	0.563000	0.77884	TCA		0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		5	106	0	0	0	0.021553	0	5	106				
L3MBTL2	83746	broad.mit.edu	37	22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(850-852)cGg>cTg		l(3)mbt-like 2 (Drosophila)							124.0	93.0	103.0					22																	41616870		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41616870G>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.851G>T	22.37:g.41616870G>T	ENSP00000216237:p.Arg284Leu						p.R284L	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			7	1009	+			284					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.851G>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319292	0.60524	.	.	ENSG00000100395	ENST00000216237	T	0.29397	1.57	5.23	4.0	0.46444	.	0.208186	0.50627	D	0.000102	T	0.09730	0.0239	N	0.02539	-0.55	0.54753	D	0.999982	B;B	0.19445	0.036;0.004	B;B	0.12156	0.007;0.007	T	0.23476	-1.0187	10	0.19590	T	0.45	.	3.8652	0.09013	0.341:0.0:0.659:0.0	.	284;284	Q969R5-3;Q969R5	.;LMBL2_HUMAN	L	284	ENSP00000216237:R284L	ENSP00000216237:R284L	R	+	2	0	L3MBTL2	39946816	1.000000	0.71417	0.982000	0.44146	0.675000	0.39556	7.692000	0.84203	2.614000	0.88457	0.462000	0.41574	CGG		0.537	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		4	67	1	0	0.00024832	0.009096	0.000337006	4	67				
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000359209.6	+	7	948	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000368172.1_Missense_Mutation_p.G92V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(274-276)gGa>gTa		kin of IRRE like (Drosophila)							136.0	143.0	141.0					1																	158057909		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057909G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.881G>T	1.37:g.158057909G>T	ENSP00000352138:p.Gly294Val		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V	p.G92V			Q96J84	KIRR1_HUMAN			3	287	+	all_hematologic(112;0.0378)		294			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.275G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647837	0.87958	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000490	T	0.59032	0.2164	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.72374	-0.4313	10	0.87932	D	0	-37.4022	16.7618	0.85514	0.0:0.0:1.0:0.0	.	194;130;92;294	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	V	130;294;191;294;194;92	ENSP00000353202:G130V;ENSP00000357155:G294V;ENSP00000376098:G191V;ENSP00000352138:G294V;ENSP00000389674:G194V;ENSP00000357154:G92V	ENSP00000352138:G294V	G	+	2	0	KIRREL	156324533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GGA		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		7	253	1	0	1.12685e-05	0.047766	1.58594e-05	7	253				
KCTD19	146212	broad.mit.edu	37	16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(751-753)Gta>Ata		potassium channel tetramerization domain containing 19							175.0	178.0	177.0					16																	67335718		1912	4123	6035	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335718C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.751G>A	16.37:g.67335718C>T	ENSP00000305702:p.Val251Ile					KCTD19_ENST00000562860.1_5'UTR	p.V251I	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	806	-		Ovarian(137;0.192)	251					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.751G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378332	0.11466	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	6.17	-1.53	0.08611	BTB/POZ fold (2);	0.802103	0.11579	N	0.549922	T	0.34658	0.0905	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14924	-1.0455	10	0.32370	T	0.25	-2.0805	8.1702	0.31249	0.0:0.4407:0.1031:0.4562	.	251	Q17RG1	KCD19_HUMAN	I	251	ENSP00000305702:V251I	ENSP00000305702:V251I	V	-	1	0	KCTD19	65893219	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-1.122000	0.03267	-0.480000	0.06803	-0.797000	0.03246	GTA		0.473	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		15	253	0	0	0	0.024245	0	15	253				
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(124-126)Aat>Cat		chloride intracellular channel 1							126.0	95.0	105.0					6																	31701956		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701956T>G	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.124A>C	6.37:g.31701956T>G	ENSP00000364935:p.Asn42His					CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H	p.N42H			O00299	CLIC1_HUMAN			3	696	-			42			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.124A>C	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479018	0.84747	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Thioredoxin-like fold (2);	0.065732	0.64402	U	0.000016	T	0.39937	0.1097	L	0.52905	1.665	0.54753	D	0.999987	P	0.47962	0.903	P	0.51135	0.66	T	0.41233	-0.9520	10	0.72032	D	0.01	-17.7378	13.6344	0.62215	0.0:0.0:0.0:1.0	.	42	O00299	CLIC1_HUMAN	H	42	ENSP00000364940:N42H;ENSP00000364934:N42H;ENSP00000364935:N42H;ENSP00000379229:N42H	ENSP00000364934:N42H	N	-	1	0	CLIC1	31809935	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.805000	0.69143	2.116000	0.64780	0.482000	0.46254	AAT		0.517	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		3	63	0	0	0	0.004672	0	3	63				
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:41978662G>A	ENST00000372583.1	-	8	7115	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6229-6231)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 3							33.0	30.0	31.0					1																	41978662		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978662G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6230C>T	1.37:g.41978662G>A	ENSP00000361664:p.Ala2077Val					HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V	p.A2077V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7244	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2077			6 X 4 AA tandem repeats of S-P-X-[RK].		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6230C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570604	0.86542	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.65	4.65	0.58169	.	0.465044	0.18293	N	0.145668	T	0.05960	0.0155	N	0.24115	0.695	0.38023	D	0.934924	P;P	0.40731	0.728;0.608	B;B	0.36186	0.219;0.109	T	0.49263	-0.8958	10	0.40728	T	0.16	-3.7875	17.4682	0.87639	0.0:0.0:1.0:0.0	.	2077;2077	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2077	ENSP00000361665:A2077V;ENSP00000361664:A2077V;ENSP00000247584:A2077V;ENSP00000410828:A2077V	ENSP00000247584:A2077V	A	-	2	0	HIVEP3	41751249	0.995000	0.38212	0.997000	0.53966	0.977000	0.68977	3.387000	0.52501	2.267000	0.75376	0.655000	0.94253	GCC		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	43	0	0	0	0.004672	0	3	43				
PCDHA4	56144	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313																																						ENST00000530339.1																			1	Substitution - Missense(1)	p.S286L(1)	ovary(1)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(856-858)tCg>tTg									64.0	69.0	67.0					5																	140187629		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187629C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.857C>T	5.37:g.140187629C>T	ENSP00000435300:p.Ser286Leu					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.S286L	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	857	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.857C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	2.680	-0.275652	0.05679	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64991	-0.13;-0.13;-0.13	4.34	2.27	0.28462	Cadherin (4);Cadherin-like (1);	1.146100	0.06905	N	0.806657	T	0.53674	0.1811	L	0.49513	1.565	0.09310	N	1	B;B;B	0.26318	0.012;0.04;0.146	B;B;B	0.23419	0.008;0.028;0.046	T	0.44267	-0.9339	10	0.40728	T	0.16	.	5.1496	0.15002	0.1626:0.6295:0.0:0.2079	.	286;286;286	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	286	ENSP00000423470:S286L;ENSP00000349344:S286L;ENSP00000435300:S286L	ENSP00000349344:S286L	S	+	2	0	PCDHA4	140167813	0.000000	0.05858	0.036000	0.18154	0.041000	0.13682	-0.105000	0.10907	0.748000	0.32831	0.467000	0.42956	TCG		0.313	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	84	0	0	0	0.029380	0	7	84				
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(529-531)aCa>aAa		protein phosphatase 3, catalytic subunit, gamma isozyme							214.0	182.0	193.0					8																	22368644		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368644C>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.530C>A	8.37:g.22368644C>A	ENSP00000240139:p.Thr177Lys					PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K	p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	857	+		Prostate(55;0.104)	177					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.530C>A	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438428|4.438428	0.83885|0.83885	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05580	.|3.42;3.42;3.42;3.42;3.42	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.047960	.|0.85682	.|D	.|0.000000	T|T	0.19644|0.19644	0.0472|0.0472	M|M	0.87900|0.87900	2.915|2.915	0.53688|0.53688	D|D	0.999972|0.999972	.|P;P;P;B	.|0.37612	.|0.602;0.547;0.602;0.415	.|B;B;B;B	.|0.41571	.|0.222;0.36;0.222;0.142	T|T	0.00458|0.00458	-1.1727|-1.1727	5|10	.|0.87932	.|D	.|0	-15.5783|-15.5783	19.3283|19.3283	0.94273|0.94273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;177;177;177	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	N|K	27;54|177;177;177;177;3	.|ENSP00000429379:T177K;ENSP00000240139:T177K;ENSP00000289963:T177K;ENSP00000380878:T177K;ENSP00000430555:T3K	.|ENSP00000240139:T177K	H|T	+|+	1|2	0|0	PPP3CC|PPP3CC	22424589|22424589	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.383	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		5	122	1	0	0.000602214	0.014758	0.000729957	5	122				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	34	0	0	0	0.009096	0	4	34				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	56	0	0	0	0.009096	0	4	56				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		12	33	0	0	0	0.033300	0	12	33				
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.491T>G	c.(490-492)aTg>aGg	p.M164R		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.e5+1		calmodulin-lysine N-methyltransferase							165.0	149.0	154.0					2																	44933479		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44933479T>G		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.492+1T>G	2.37:g.44933479T>G							p.M164_splice	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			5	535	+			164					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37	c.492_splice	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578180	0.45902	.	.	ENSG00000143919	ENST00000378494	T	0.09817	2.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00617	-1.1642	10	0.42905	T	0.14	-12.4282	15.0951	0.72226	0.0:0.0:0.0:1.0	.	164	Q7Z624	CMKMT_HUMAN	R	164	ENSP00000367755:M164R	ENSP00000367755:M164R	M	+	2	0	CAMKMT	44786983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.135000	0.66039	0.533000	0.62120	ATG		0.483	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation	5	155	0	0	0	0.038147	0	5	155				
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			0				lung(3)	3						c.(331-333)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							56.0	55.0	55.0					9																	34343327		2203	4300	6503	SO:0001819	synonymous_variant	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343327C>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.333C>T	9.37:g.34343327C>T						NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	691	+			111			Nudix hydrolase.		D3DRM0|Q5T589	Silent	SNP	ENST00000379158.2	37	c.333C>T	CCDS6552.1																																																																																				0.557	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		4	94	0	0	0	0.009096	0	4	94				
IL2RB	3560	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1444-1446)Ctg>Ttg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						19.0	24.0	22.0					22																	37524348		2181	4251	6432	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524348G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1444C>T	22.37:g.37524348G>A							p.L482L	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1642	-			482					B2R765	Silent	SNP	ENST00000216223.5	37	c.1444C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			5	73	0	0	0	0.029380	0	5	73				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	93	0	0	0	0.004672	0	3	93				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	84	0	0	0	0.009096	0	4	84				
L3MBTL2	83746	broad.mit.edu	37	22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(850-852)cGg>cTg		l(3)mbt-like 2 (Drosophila)							124.0	93.0	103.0					22																	41616870		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41616870G>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.851G>T	22.37:g.41616870G>T	ENSP00000216237:p.Arg284Leu						p.R284L	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			7	1009	+			284					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.851G>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319292	0.60524	.	.	ENSG00000100395	ENST00000216237	T	0.29397	1.57	5.23	4.0	0.46444	.	0.208186	0.50627	D	0.000102	T	0.09730	0.0239	N	0.02539	-0.55	0.54753	D	0.999982	B;B	0.19445	0.036;0.004	B;B	0.12156	0.007;0.007	T	0.23476	-1.0187	10	0.19590	T	0.45	.	3.8652	0.09013	0.341:0.0:0.659:0.0	.	284;284	Q969R5-3;Q969R5	.;LMBL2_HUMAN	L	284	ENSP00000216237:R284L	ENSP00000216237:R284L	R	+	2	0	L3MBTL2	39946816	1.000000	0.71417	0.982000	0.44146	0.675000	0.39556	7.692000	0.84203	2.614000	0.88457	0.462000	0.41574	CGG		0.537	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		4	67	1	0	0.00024832	0.009096	0.0003104	4	67				
PTCH2	8643	broad.mit.edu	37	1	45296670	45296670	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:45296670C>T	ENST00000372192.3	-	6	793	c.663G>A	c.(661-663)ctG>ctA	p.L221L	PTCH2_ENST00000447098.2_Silent_p.L221L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	221					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCTCCTCCAGCAGCTGCTCTG	0.632									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(661-663)ctG>ctA		patched 2							30.0	32.0	31.0					1																	45296670		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45296670C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.663G>A	1.37:g.45296670C>T						PTCH2_ENST00000372192.3_Silent_p.L221L	p.L221L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			6	674	-	Acute lymphoblastic leukemia(166;0.155)		221					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.663G>A	CCDS516.1																																																																																				0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	41	0	0	0	0.038147	0	7	41				
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(220-222)tCa>tTa		F-box protein 46							35.0	40.0	39.0					19																	46216533		2070	4200	6270	SO:0001583	missense	23403						protein binding	g.chr19:46216533G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.221C>T	19.37:g.46216533G>A	ENSP00000410007:p.Ser74Leu						p.S74L	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	354	-		Ovarian(192;0.179)|all_neural(266;0.224)	74						Missense_Mutation	SNP	ENST00000317683.3	37	c.221C>T	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516138	0.64634	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	T	0.44159	0.1280	N	0.08118	0	0.39131	D	0.961852	D	0.54207	0.965	P	0.55055	0.767	T	0.48399	-0.9039	8	0.41790	T	0.15	-13.2689	11.7008	0.51569	0.0:0.0:1.0:0.0	.	74	Q6PJ61	FBX46_HUMAN	L	74	.	ENSP00000410007:S74L	S	-	2	0	FBXO46	50908373	0.968000	0.33430	0.978000	0.43139	0.545000	0.35147	2.108000	0.41854	2.206000	0.71126	0.563000	0.77884	TCA		0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		5	106	0	0	0	0.021553	0	5	106				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	42	0	0	0	0.014758	0	5	42				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	51	0	0	0	0.014758	0	5	51				
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:158057909G>T	ENST00000359209.6	+	7	948	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000368172.1_Missense_Mutation_p.G92V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(274-276)gGa>gTa		kin of IRRE like (Drosophila)							136.0	143.0	141.0					1																	158057909		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057909G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.881G>T	1.37:g.158057909G>T	ENSP00000352138:p.Gly294Val		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V	p.G92V			Q96J84	KIRR1_HUMAN			3	287	+	all_hematologic(112;0.0378)		294			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.275G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647837	0.87958	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000490	T	0.59032	0.2164	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.72374	-0.4313	10	0.87932	D	0	-37.4022	16.7618	0.85514	0.0:0.0:1.0:0.0	.	194;130;92;294	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	V	130;294;191;294;194;92	ENSP00000353202:G130V;ENSP00000357155:G294V;ENSP00000376098:G191V;ENSP00000352138:G294V;ENSP00000389674:G194V;ENSP00000357154:G92V	ENSP00000352138:G294V	G	+	2	0	KIRREL	156324533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GGA		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		7	253	1	0	1.12685e-05	0.047766	1.454e-05	7	253				
KCTD19	146212	broad.mit.edu	37	16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(751-753)Gta>Ata		potassium channel tetramerization domain containing 19							175.0	178.0	177.0					16																	67335718		1912	4123	6035	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335718C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.751G>A	16.37:g.67335718C>T	ENSP00000305702:p.Val251Ile					KCTD19_ENST00000562860.1_5'UTR	p.V251I	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	806	-		Ovarian(137;0.192)	251					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.751G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378332	0.11466	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	6.17	-1.53	0.08611	BTB/POZ fold (2);	0.802103	0.11579	N	0.549922	T	0.34658	0.0905	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14924	-1.0455	10	0.32370	T	0.25	-2.0805	8.1702	0.31249	0.0:0.4407:0.1031:0.4562	.	251	Q17RG1	KCD19_HUMAN	I	251	ENSP00000305702:V251I	ENSP00000305702:V251I	V	-	1	0	KCTD19	65893219	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-1.122000	0.03267	-0.480000	0.06803	-0.797000	0.03246	GTA		0.473	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		15	253	0	0	0	0.024245	0	15	253				
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(124-126)Aat>Cat		chloride intracellular channel 1							126.0	95.0	105.0					6																	31701956		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701956T>G	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.124A>C	6.37:g.31701956T>G	ENSP00000364935:p.Asn42His					CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H	p.N42H			O00299	CLIC1_HUMAN			3	696	-			42			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.124A>C	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479018	0.84747	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Thioredoxin-like fold (2);	0.065732	0.64402	U	0.000016	T	0.39937	0.1097	L	0.52905	1.665	0.54753	D	0.999987	P	0.47962	0.903	P	0.51135	0.66	T	0.41233	-0.9520	10	0.72032	D	0.01	-17.7378	13.6344	0.62215	0.0:0.0:0.0:1.0	.	42	O00299	CLIC1_HUMAN	H	42	ENSP00000364940:N42H;ENSP00000364934:N42H;ENSP00000364935:N42H;ENSP00000379229:N42H	ENSP00000364934:N42H	N	-	1	0	CLIC1	31809935	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.805000	0.69143	2.116000	0.64780	0.482000	0.46254	AAT		0.517	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		3	63	0	0	0	0.004672	0	3	63				
TAF11	6882	broad.mit.edu	37	6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T	rs139408667		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:34846380_34846381insT	ENST00000361288.4	-	5	753_754	c.622_623insA	c.(622-624)atcfs	p.I208fs	TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	208					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTGC	0.421																																						ENST00000361288.4																			1	Deletion - Frameshift(1)	p.I208fs*>4(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(622-624)catfs		TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa																																				SO:0001589	frameshift_variant	6882				positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	g.chr6:34846380_34846381insT	X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"""	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.623dupA	6.37:g.34846387_34846387dupT	ENSP00000354633:p.Ile208fs					TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron	p.H208fs	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN			5	753_754	-			208					B2R8R3|B4DY18|Q9UHS0	Frame_Shift_Ins	INS	ENST00000361288.4	37	c.622_623insA	CCDS4797.1																																																																																				0.421	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040259.1	NM_005643		7	135						7	135	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	169						7	169	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		4	7						4	7	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	8						4	8	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		5	6						5	6	---	---	---	---
