#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
PCDHA1	56147	broad.mit.edu	37	5	140167838	140167838	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140167838G>A	ENST00000504120.2	+	1	1963	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G655S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGATCACGGTGAGCCGGC	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1963-1965)Ggt>Agt									49.0	54.0	52.0					5																	140167838		2203	4300	6503	SO:0001583	missense	0							g.chr5:140167838G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1963G>A	5.37:g.140167838G>A	ENSP00000420840:p.Gly655Ser					PCDHA1_ENST00000378133.3_Missense_Mutation_p.G655S|PCDHA1_ENST00000394633.3_Intron	p.G655S	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1963G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	17.53	3.413859	0.62511	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.48522	0.81;0.81	3.79	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.39544	U	0.001335	T	0.77505	0.4140	H	0.95043	3.615	0.41875	D	0.990293	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.959	D	0.86269	0.1660	10	0.87932	D	0	.	16.0024	0.80306	0.0:0.0:1.0:0.0	.	655;655	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	655	ENSP00000420840:G655S;ENSP00000367373:G655S	ENSP00000367373:G655S	G	+	1	0	PCDHA1	140148022	1.000000	0.71417	0.999000	0.59377	0.106000	0.19336	9.295000	0.96095	1.818000	0.53035	0.650000	0.86243	GGT		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	50	0	0	0	1	0	14	50				
FAM83C	128876	broad.mit.edu	37	20	33875275	33875275	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:33875275G>T	ENST00000374408.3	-	4	1403	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	436										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGTTAAGGGGCTGGTACT	0.632																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1306-1308)cCc>cAc		family with sequence similarity 83, member C							64.0	54.0	57.0					20																	33875275		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875275G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1307C>A	20.37:g.33875275G>T	ENSP00000363529:p.Pro436His						p.P436H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1403	-			436					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1307C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414784	0.62511	.	.	ENSG00000125998	ENST00000374408	T	0.10005	2.92	4.81	4.81	0.61882	.	0.266028	0.25166	N	0.032630	T	0.26846	0.0657	M	0.72353	2.195	0.33186	D	0.550153	D	0.69078	0.997	P	0.58013	0.831	T	0.36065	-0.9763	10	0.66056	D	0.02	-19.531	13.7372	0.62824	0.0:0.0:1.0:0.0	.	436	Q9BQN1	FA83C_HUMAN	H	436	ENSP00000363529:P436H	ENSP00000363529:P436H	P	-	2	0	FAM83C	33338689	0.997000	0.39634	0.979000	0.43373	0.732000	0.41865	3.787000	0.55439	2.403000	0.81681	0.561000	0.74099	CCC		0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			8	20	1	0	0.000274275	1	0.000290898	8	20				
SMOC1	64093	broad.mit.edu	37	14	70480116	70480116	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:70480116G>A	ENST00000381280.4	+	10	1207	c.954G>A	c.(952-954)ggG>ggA	p.G318G	SMOC1_ENST00000361956.3_Silent_p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	318					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTCCAGAAGGGAAGAAAATGG	0.443											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(952-954)ggG>ggA		SPARC related modular calcium binding 1																																				SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70480116G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.954G>A	14.37:g.70480116G>A			OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	SMOC1_ENST00000361956.3_Silent_p.G318G	p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	10	1207	+			318					A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.954G>A	CCDS9798.1																																																																																				0.443	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			15	25	0	0	0	1	0	15	25				
NTNG2	84628	broad.mit.edu	37	9	135073943	135073943	+	Silent	SNP	G	G	T	rs138616053		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:135073943G>T	ENST00000393229.3	+	3	1580	c.804G>T	c.(802-804)cgG>cgT	p.R268R	NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	268	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGTGCAGCGGGAGAACCTCT	0.637																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(802-804)cgG>cgT		netrin G2							37.0	42.0	40.0					9																	135073943		2201	4300	6501	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073943G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.804G>T	9.37:g.135073943G>T						NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R	p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1580	+			268			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.804G>T	CCDS6946.1																																																																																				0.637	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		15	27	1	0	6.31663e-08	1	7.28842e-08	15	27				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	133	0	0	0	1	0	5	133				
LRRC16A	55604	broad.mit.edu	37	6	25551235	25551235	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:25551235A>G	ENST00000329474.6	+	27	2794	c.2426A>G	c.(2425-2427)gAa>gGa	p.E809G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	809					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCAGCACCGAAAAGATTTCT	0.388																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2425-2427)gAa>gGa		leucine rich repeat containing 16A							170.0	160.0	163.0					6																	25551235		1879	4114	5993	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551235A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2426A>G	6.37:g.25551235A>G	ENSP00000331983:p.Glu809Gly						p.E809G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			27	2794	+			809					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2426A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462177	0.43736	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.19938	2.11	5.38	4.23	0.50019	.	0.318910	0.33772	N	0.004567	T	0.07954	0.0199	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.05835	-1.0861	10	0.49607	T	0.09	.	10.6412	0.45594	0.9253:0.0:0.0747:0.0	.	809;809;809;809	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	G	809	ENSP00000331983:E809G	ENSP00000331983:E809G	E	+	2	0	LRRC16A	25659214	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	3.382000	0.52463	2.027000	0.59764	0.528000	0.53228	GAA		0.388	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		15	84	0	0	0	1	0	15	84				
LHX4	89884	broad.mit.edu	37	1	180235656	180235656	+	Silent	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:180235656G>C	ENST00000263726.2	+	3	622	c.378G>C	c.(376-378)acG>acC	p.T126T		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	126	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGCTGGCCACGGGGGACGAAT	0.612																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(376-378)acG>acC		LIM homeobox 4							62.0	60.0	61.0					1																	180235656		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235656G>C	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.378G>C	1.37:g.180235656G>C							p.T126T	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	622	+			126			LIM zinc-binding 2.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.378G>C	CCDS1338.1																																																																																				0.612	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		30	22	0	0	0	1	0	30	22				
USP53	54532	broad.mit.edu	37	4	120214179	120214179	+	Missense_Mutation	SNP	G	G	T	rs551730276		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:120214179G>T	ENST00000274030.6	+	19	4214	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	USP53_ENST00000450251.1_Missense_Mutation_p.G1012V	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAAACTCAGGTGCCATTGAT	0.393																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(3034-3036)gGt>gTt		ubiquitin specific peptidase 53							111.0	110.0	110.0					4																	120214179		1965	4143	6108	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214179G>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3035G>T	4.37:g.120214179G>T	ENSP00000274030:p.Gly1012Val					USP53_ENST00000274030.6_Missense_Mutation_p.G1012V	p.G1012V			Q70EK8	UBP53_HUMAN			15	3579	+			1012						Missense_Mutation	SNP	ENST00000274030.6	37	c.3035G>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496492	0.26861	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.47869	0.83;0.83	5.73	-0.0813	0.13703	.	2.150990	0.01898	N	0.038980	T	0.41236	0.1150	L	0.44542	1.39	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.23904	-1.0175	10	0.42905	T	0.14	-5.1327	6.3438	0.21337	0.412:0.1271:0.4609:0.0	.	1012	Q70EK8	UBP53_HUMAN	V	1012	ENSP00000274030:G1012V;ENSP00000409906:G1012V	ENSP00000274030:G1012V	G	+	2	0	USP53	120433627	0.000000	0.05858	0.001000	0.08648	0.760000	0.43138	-0.294000	0.08309	0.081000	0.16988	0.585000	0.79938	GGT		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		33	74	1	0	9.45814e-24	1	1.19651e-23	33	74				
PEX6	5190	broad.mit.edu	37	6	42936629	42936629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:42936629C>T	ENST00000304611.8	-	6	1531	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	488					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AAGTGGAGCCCAAGGTGACTA	0.597																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1462-1464)Ggg>Agg		peroxisomal biogenesis factor 6							109.0	101.0	104.0					6																	42936629		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936629C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1462G>A	6.37:g.42936629C>T	ENSP00000303511:p.Gly488Arg					PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		6	1531	-			488					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1462G>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550991	0.65311	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.80909	-1.43;-1.43	5.13	5.13	0.70059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.474834	0.26026	N	0.026785	T	0.81837	0.4907	L	0.49778	1.585	0.35215	D	0.775506	D	0.89917	1.0	D	0.78314	0.991	D	0.84162	0.0429	10	0.72032	D	0.01	-28.4322	9.4904	0.38955	0.0:0.907:0.0:0.093	.	488	Q13608	PEX6_HUMAN	R	488	ENSP00000303511:G488R;ENSP00000244546:G488R	ENSP00000244546:G488R	G	-	1	0	PEX6	43044607	0.076000	0.21285	0.992000	0.48379	0.875000	0.50365	1.131000	0.31406	2.678000	0.91216	0.655000	0.94253	GGG		0.597	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		10	55	0	0	0	1	0	10	55				
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		FYVE and coiled-coil domain containing 1		G	VAL/ALA	0,4406		0,0,2203	176.0	181.0	179.0		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	14	4140	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		4	103	0	0	0	1	0	4	103				
DPP10	57628	broad.mit.edu	37	2	116534830	116534830	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:116534830G>T	ENST00000410059.1	+	14	1748	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	DPP10_ENST00000393147.2_Missense_Mutation_p.W427L|DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	423						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGGAAACTGGGAAGTGATA	0.383																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1267-1269)tGg>tTg		dipeptidyl-peptidase 10 (non-functional)							119.0	114.0	115.0					2																	116534830		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534830G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1268G>T	2.37:g.116534830G>T	ENSP00000386565:p.Trp423Leu					DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L	p.W423L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			14	1748	+			423					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1268G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.97	4.97	0.65823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.996;1.0;0.996;0.998	T	0.81618	-0.0851	10	0.87932	D	0	-26.5509	16.1089	0.81244	0.0:0.0:1.0:0.0	.	416;427;419;423	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	423;373;427;416;373	ENSP00000386565:W423L;ENSP00000387038:W373L;ENSP00000376855:W427L;ENSP00000309066:W416L	ENSP00000309066:W416L	W	+	2	0	DPP10	116251300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.007000	0.88571	2.731000	0.93534	0.655000	0.94253	TGG		0.383	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	24	1	0	0.150653	1	0.155084	4	24				
ACTA1	58	broad.mit.edu	37	1	229568583	229568583	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:229568583G>A	ENST00000366684.3	-	3	276	c.174C>T	c.(172-174)gaC>gaT	p.D58D	ACTA1_ENST00000366683.2_Silent_p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCTGAGCCTCGTCGCCCACGT	0.592																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(172-174)gaC>gaT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						68.0	68.0	68.0					1																	229568583		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568583G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.174C>T	1.37:g.229568583G>A						ACTA1_ENST00000366683.2_Silent_p.D58D	p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	276	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	58					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.174C>T	CCDS1578.1																																																																																				0.592	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		11	65	0	0	0	1	0	11	65				
PPP1R13B	23368	broad.mit.edu	37	14	104251154	104251154	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:104251154G>A	ENST00000202556.9	-	3	537	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	85					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCAGTTGGGGAGTCCTCGT	0.368																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(253-255)tcC>tcT		protein phosphatase 1, regulatory subunit 13B							83.0	80.0	81.0					14																	104251154		1846	4089	5935	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104251154G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.255C>T	14.37:g.104251154G>A							p.S85S	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			3	537	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	85					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.255C>T	CCDS41997.1																																																																																				0.368	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	40	0	0	0	1	0	4	40				
ANKRD26	22852	broad.mit.edu	37	10	27323868	27323868	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:27323868A>C	ENST00000376087.4	-	24	3676	c.3511T>G	c.(3511-3513)Ttt>Gtt	p.F1171V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V|ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATAGCATGAAACTGGTCTTGG	0.363																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3511-3513)Ttt>Gtt		ankyrin repeat domain 26							210.0	197.0	201.0					10																	27323868		1889	4115	6004	SO:0001583	missense	22852					centrosome		g.chr10:27323868A>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3511T>G	10.37:g.27323868A>C	ENSP00000365255:p.Phe1171Val					ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V|ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V	p.F1171V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3676	-			1170					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3511T>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	9.403	1.078552	0.20227	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15017	2.46;2.46;2.46	5.64	1.95	0.26073	.	0.000000	0.56097	D	0.000038	T	0.15219	0.0367	M	0.63169	1.94	0.26828	N	0.968641	B;B;P	0.36599	0.234;0.15;0.56	B;B;B	0.36186	0.067;0.031;0.219	T	0.17349	-1.0372	10	0.62326	D	0.03	.	3.3282	0.07075	0.6444:0.1428:0.0761:0.1367	.	1171;1170;1187	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	728;1171;1187	ENSP00000365238:F728V;ENSP00000365255:F1171V;ENSP00000405112:F1187V	ENSP00000365238:F728V	F	-	1	0	ANKRD26	27363874	0.998000	0.40836	0.001000	0.08648	0.324000	0.28378	3.422000	0.52749	0.076000	0.16826	0.482000	0.46254	TTT		0.363	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			38	87	0	0	0	1	0	38	87				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	56	0	0	0	1	0	5	56				
OR5A2	219981	broad.mit.edu	37	11	59189575	59189575	+	Silent	SNP	G	G	A	rs150394868		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:59189575G>A	ENST00000302040.4	-	1	874	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATTCACCACGGGGATCACCA	0.473																																						ENST00000302040.4																			1	Substitution - coding silent(1)	p.P284P(1)	lung(1)	large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(850-852)ccC>ccT		olfactory receptor, family 5, subfamily A, member 2							82.0	78.0	79.0					11																	59189575		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189575G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.852C>T	11.37:g.59189575G>A							p.P284P	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	874	-			284					B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.852C>T	CCDS31560.1																																																																																				0.473	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		14	73	0	0	0	1	0	14	73				
COL21A1	81578	broad.mit.edu	37	6	56035506	56035506	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:56035506T>A	ENST00000244728.5	-	5	1364	c.967A>T	c.(967-969)Aca>Tca	p.T323S	COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S|COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	323	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGTTGTTGTAAATAATAAG	0.343																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(967-969)Aca>Tca		collagen, type XXI, alpha 1							82.0	73.0	76.0					6																	56035506		1867	4099	5966	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035506T>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.967A>T	6.37:g.56035506T>A	ENSP00000244728:p.Thr323Ser					COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S	p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1364	-	Lung NSC(77;0.0483)		323			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.967A>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	T	8.607	0.888200	0.17540	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13420	2.59;2.59;2.59	4.38	3.19	0.36642	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.56097	D	0.000040	T	0.10165	0.0249	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.97	T	0.07214	-1.0784	10	0.09843	T	0.71	.	10.9051	0.47076	0.0:0.0:0.1581:0.8419	.	323;323	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	323	ENSP00000244728:T323S;ENSP00000359855:T323S;ENSP00000444384:T323S	ENSP00000244728:T323S	T	-	1	0	COL21A1	56143465	1.000000	0.71417	0.972000	0.41901	0.050000	0.14768	4.502000	0.60400	0.528000	0.28580	-0.438000	0.05819	ACA		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			3	13	0	0	0	1	0	3	13				
CCDC81	60494	broad.mit.edu	37	11	86131085	86131085	+	Missense_Mutation	SNP	G	G	A	rs144706705		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:86131085G>A	ENST00000445632.2	+	14	2079	c.1807G>A	c.(1807-1809)Gct>Act	p.A603T	CCDC81_ENST00000278487.3_Missense_Mutation_p.A338T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	603										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGAGGACAAGGCTTTTGAACG	0.507																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1012-1014)Gct>Act		coiled-coil domain containing 81		G	THR/ALA,THR/ALA	0,4404		0,0,2202	132.0	109.0	117.0		1807,1537	3.6	1.0	11	dbSNP_134	117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CCDC81	NM_001156474.1,NM_021827.4	58,58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	603/653,513/563	86131085	1,13001	2202	4299	6501	SO:0001583	missense	60494							g.chr11:86131085G>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1807G>A	11.37:g.86131085G>A	ENSP00000415528:p.Ala603Thr					CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T	p.A338T			Q6ZN84	CCD81_HUMAN			13	2091	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	603					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1012G>A	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021813	0.35701	0.0	1.16E-4	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.82	3.62	0.41486	.	0.666354	0.15278	N	0.270845	T	0.33990	0.0882	M	0.70595	2.14	0.25430	N	0.988199	P;P;P	0.46142	0.873;0.804;0.573	P;B;B	0.44811	0.461;0.311;0.294	T	0.25012	-1.0144	9	.	.	.	-2.1543	5.8925	0.18921	0.1548:0.0:0.6713:0.1739	.	338;603;513	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	T	513;338;603;338	ENSP00000346800:A513T;ENSP00000278487:A338T;ENSP00000415528:A603T;ENSP00000437165:A338T	.	A	+	1	0	CCDC81	85808733	0.793000	0.28825	0.997000	0.53966	0.670000	0.39368	0.539000	0.23175	1.461000	0.47929	0.650000	0.86243	GCT		0.507	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		12	29	0	0	0	1	0	12	29				
PARN	5073	broad.mit.edu	37	16	14540829	14540829	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:14540829T>A	ENST00000437198.2	-	23	1921	c.1780A>T	c.(1780-1782)Acc>Tcc	p.T594S	PARN_ENST00000539279.1_Missense_Mutation_p.T419S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000420015.2_Missense_Mutation_p.T548S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	594					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CAGGAATCGGTCTGCTCAAGC	0.488																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1780-1782)Acc>Tcc		poly(A)-specific ribonuclease							124.0	120.0	121.0					16																	14540829		1893	4111	6004	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540829T>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1780A>T	16.37:g.14540829T>A	ENSP00000387911:p.Thr594Ser					PARN_ENST00000539279.1_Missense_Mutation_p.T419S|PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S	p.T594S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			23	1921	-			594					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.1780A>T	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469366	0.26423	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.65	4.54	0.55810	.	0.671815	0.15297	N	0.269835	T	0.30885	0.0779	L	0.27053	0.805	0.32154	N	0.583872	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.31806	-0.9930	9	0.09590	T	0.72	-4.1883	9.6023	0.39612	0.1691:0.0:0.0:0.8309	.	419;548;594	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	S	594;533;548;419	.	ENSP00000345456:T533S	T	-	1	0	PARN	14448330	0.808000	0.29022	0.348000	0.25681	0.251000	0.25915	0.708000	0.25719	1.035000	0.39972	0.528000	0.53228	ACC		0.488	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		15	42	0	0	0	1	0	15	42				
PPP6R3	55291	broad.mit.edu	37	11	68359047	68359047	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:68359047A>G	ENST00000393800.2	+	18	2043	c.1789A>G	c.(1789-1791)Aat>Gat	p.N597D	PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000393799.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	597					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATTTAGGGAAATATTGCCTT	0.323																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1789-1791)Aat>Gat		protein phosphatase 6, regulatory subunit 3							70.0	64.0	66.0					11																	68359047		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68359047A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1789A>G	11.37:g.68359047A>G	ENSP00000377389:p.Asn597Asp					PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D	p.N597D			Q5H9R7	PP6R3_HUMAN			18	2056	+			597					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1789A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763387	0.89932	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.6;1.59;1.53;1.47;1.4;1.58;1.59;1.49;1.5;1.43;1.51	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.995;0.995;0.997;0.996;0.999;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.978;0.969;0.969;0.979;0.954;0.997;0.979	T	0.53129	-0.8482	10	0.25106	T	0.35	.	15.7731	0.78187	1.0:0.0:0.0:0.0	.	280;365;517;568;591;597;597;517	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	D	597;597;365;568;551;591;597;517;517;562;304	ENSP00000377388:N597D;ENSP00000377389:N597D;ENSP00000434429:N365D;ENSP00000431415:N568D;ENSP00000265637:N551D;ENSP00000433058:N591D;ENSP00000377390:N597D;ENSP00000265636:N517D;ENSP00000437329:N517D;ENSP00000433565:N562D;ENSP00000436209:N304D	ENSP00000265636:N517D	N	+	1	0	PPP6R3	68115623	1.000000	0.71417	0.984000	0.44739	0.936000	0.57629	7.394000	0.79862	2.183000	0.69458	0.528000	0.53228	AAT		0.323	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		4	30	0	0	0	1	0	4	30				
POTEH	23784	broad.mit.edu	37	22	16287429	16287429	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:16287429T>G	ENST00000343518.6	-	1	508	c.457A>C	c.(457-459)Aaa>Caa	p.K153Q		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	153										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGGCCCACTTTGTTCTTGCCG	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(457-459)Aaa>Caa		POTE ankyrin domain family, member H							179.0	189.0	185.0					22																	16287429		2039	3910	5949	SO:0001583	missense	23784							g.chr22:16287429T>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.457A>C	22.37:g.16287429T>G	ENSP00000340610:p.Lys153Gln						p.K153Q	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	508	-			153					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.457A>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.360	1.067665	0.20067	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26067	1.76	0.554	0.554	0.17241	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B	0.33413	0.411	B	0.29353	0.101	T	0.31586	-0.9938	8	0.16420	T	0.52	.	.	.	.	.	153	Q6S545	POTEH_HUMAN	Q	116;153;153	ENSP00000340610:K153Q	ENSP00000340610:K153Q	K	-	1	0	POTEH	14667429	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-1.450000	0.02390	0.486000	0.27676	0.128000	0.15822	AAA		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		43	117	0	0	0	1	0	43	117				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	56	0	0	0	1	0	4	56				
SHANK3	85358	broad.mit.edu	37	22	51117489	51117489	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:51117489C>T	ENST00000414786.2	+	6	870	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SHANK3_ENST00000445220.2_Missense_Mutation_p.R215C|SHANK3_ENST00000262795.3_Missense_Mutation_p.R215C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	215					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CAAGGACAGCCGCGGCTTGAC	0.662																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(643-645)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 3							11.0	14.0	13.0					22																	51117489		2052	4182	6234	SO:0001583	missense	85358							g.chr22:51117489C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.643C>T	22.37:g.51117489C>T	ENSP00000464552:p.Arg215Cys					SHANK3_ENST00000262795.3_Missense_Mutation_p.R215C|SHANK3_ENST00000445220.2_Missense_Mutation_p.R215C	p.R215C			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	6	870	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	215					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	C	18.55	3.648414	0.67358	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.53857	0.6;0.6	5.18	4.16	0.48862	.	.	.	.	.	T	0.58278	0.2111	L	0.33668	1.02	0.34842	D	0.74077	D	0.89917	1.0	D	0.69307	0.963	T	0.65697	-0.6105	9	0.48119	T	0.1	.	10.7636	0.46279	0.0:0.908:0.0:0.092	.	215	F2Z3L0	.	C	215	ENSP00000442518:R215C;ENSP00000446078:R215C	ENSP00000442518:R215C	R	+	1	0	SHANK3	49464355	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	2.561000	0.45905	2.414000	0.81942	0.645000	0.84053	CGC		0.662	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4	0	0	0	1	0	2	4				
MYLK2	85366	broad.mit.edu	37	20	30418922	30418922	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:30418922A>G	ENST00000375994.2	+	9	1675	c.1402A>G	c.(1402-1404)Atg>Gtg	p.M468V	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAGTATGGGGGTGAT	0.572																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1402-1404)Atg>Gtg		myosin light chain kinase 2							103.0	102.0	103.0					20																	30418922		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418922A>G	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1402A>G	20.37:g.30418922A>G	ENSP00000365162:p.Met468Val					MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V|MYLK2_ENST00000468730.1_3'UTR	p.M468V			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	1675	+			468			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1402A>G	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.468719	0.01053	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.37235	1.21;1.21	3.94	-3.96	0.04106	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06600	0.0169	N	0.00450	-1.49	0.20563	N	0.999883	B	0.10296	0.003	B	0.08055	0.003	T	0.28332	-1.0047	9	0.02654	T	1	.	4.0024	0.09585	0.2848:0.5054:0.0857:0.1241	.	468	Q9H1R3	MYLK2_HUMAN	V	468	ENSP00000365162:M468V;ENSP00000365152:M468V	ENSP00000365152:M468V	M	+	1	0	MYLK2	29882583	0.010000	0.17322	0.395000	0.26283	0.954000	0.61252	0.291000	0.18994	-0.906000	0.03866	-0.418000	0.06021	ATG		0.572	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		23	42	0	0	0	1	0	23	42				
C14orf105	55195	broad.mit.edu	37	14	57960372	57960372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:57960372T>C	ENST00000216445.3	-	1	198	c.62A>G	c.(61-63)aAa>aGa	p.K21R	C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	21										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTCTACCTCTTTGTTTTGCAA	0.463																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(61-63)aAa>aGa		chromosome 14 open reading frame 105							75.0	73.0	73.0					14																	57960372		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57960372T>C	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.62A>G	14.37:g.57960372T>C	ENSP00000216445:p.Lys21Arg					C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R	p.K21R	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			1	198	-			21					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.62A>G	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190022	0.58017	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.31	4.15	0.48705	.	0.529657	0.18140	N	0.150459	T	0.41604	0.1166	L	0.50333	1.59	0.21256	N	0.999747	P;B;B	0.52316	0.952;0.129;0.129	B;B;B	0.43916	0.436;0.117;0.117	T	0.28073	-1.0055	10	0.30854	T	0.27	-13.637	8.8705	0.35314	0.0:0.0891:0.0:0.9109	.	21;21;21	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	R	21	ENSP00000216445:K21R;ENSP00000392368:K21R;ENSP00000434003:K21R;ENSP00000436517:K21R	ENSP00000216445:K21R	K	-	2	0	C14orf105	57030125	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	1.571000	0.36450	2.137000	0.66172	0.455000	0.32223	AAA		0.463	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		5	22	0	0	0	1	0	5	22				
USH2A	7399	broad.mit.edu	37	1	216256915	216256915	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:216256915A>T	ENST00000307340.3	-	26	5567	c.5181T>A	c.(5179-5181)ctT>ctA	p.L1727L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Silent_p.L1727L|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1727	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATATGGATGAAGTTCCAGGA	0.338										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5179-5181)ctT>ctA		Usher syndrome 2A (autosomal recessive, mild)							90.0	92.0	91.0					1																	216256915		2203	4298	6501	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256915A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5181T>A	1.37:g.216256915A>T		HNSCC(13;0.011)				RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	p.L1727L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5567	-			1727			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.5181T>A	CCDS31025.1																																																																																				0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	113	0	0	0	1	0	22	113				
OR5D13	390142	broad.mit.edu	37	11	55541529	55541529	+	Missense_Mutation	SNP	A	A	G	rs375224277		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:55541529A>G	ENST00000361760.1	+	1	616	c.616A>G	c.(616-618)Ata>Gta	p.I206V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATTATTGCCATATTCAATGA	0.388																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(616-618)Ata>Gta		olfactory receptor, family 5, subfamily D, member 13		A	VAL/ILE	1,4399	2.1+/-5.4	0,1,2199	134.0	130.0	132.0		616	-5.3	0.0	11		132	0,8592		0,0,4296	no	missense	OR5D13	NM_001001967.1	29	0,1,6495	GG,GA,AA		0.0,0.0227,0.0077	benign	206/315	55541529	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541529A>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.616A>G	11.37:g.55541529A>G	ENSP00000354800:p.Ile206Val						p.I206V	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	616	+		all_epithelial(135;0.196)	206					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.616A>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	7.074	0.568794	0.13560	2.27E-4	0.0	ENSG00000198877	ENST00000361760	T	0.36340	1.26	3.3	-5.34	0.02705	GPCR, rhodopsin-like superfamily (1);	0.963853	0.08420	N	0.948539	T	0.19087	0.0458	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.29912	-0.9996	10	0.59425	D	0.04	-3.8058	9.9747	0.41777	0.5079:0.0:0.4921:0.0	.	206	Q8NGL4	OR5DD_HUMAN	V	206	ENSP00000354800:I206V	ENSP00000354800:I206V	I	+	1	0	OR5D13	55298105	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.993000	0.00656	-1.218000	0.02601	-0.617000	0.04050	ATA		0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	66	0	0	0	1	0	24	66				
PDE8A	5151	broad.mit.edu	37	15	85626866	85626866	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:85626866T>A	ENST00000310298.4	+	7	878	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	209					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CGATCACAACTGAAACTCAGG	0.468																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(625-627)cTg>cAg		phosphodiesterase 8A							73.0	66.0	68.0					15																	85626866		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85626866T>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.626T>A	15.37:g.85626866T>A	ENSP00000311453:p.Leu209Gln					PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q	p.L209Q			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		7	878	+	Colorectal(223;0.227)		209					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.626T>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425411	0.83667	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.71698	-0.58;-0.58;-0.59	5.33	5.33	0.75918	.	0.063243	0.64402	D	0.000007	T	0.76579	0.4007	L	0.46157	1.445	0.41788	D	0.989854	D;D	0.65815	0.973;0.995	P;D	0.63033	0.847;0.91	T	0.74878	-0.3514	10	0.31617	T	0.26	.	13.5704	0.61843	0.0:0.0:0.0:1.0	.	209;209	O60658-2;O60658	.;PDE8A_HUMAN	Q	209	ENSP00000311453:L209Q;ENSP00000378056:L209Q;ENSP00000340679:L209Q	ENSP00000311453:L209Q	L	+	2	0	PDE8A	83427870	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.352000	0.79404	2.145000	0.66743	0.533000	0.62120	CTG		0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		5	23	0	0	0	1	0	5	23				
ZSWIM4	65249	broad.mit.edu	37	19	13919900	13919900	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:13919900G>A	ENST00000254323.2	+	5	1067	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R10Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	293							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGATGCTGCGAATGCGGGAC	0.731																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(877-879)cGa>cAa		zinc finger, SWIM-type containing 4							36.0	40.0	39.0					19																	13919900		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13919900G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.878G>A	19.37:g.13919900G>A	ENSP00000254323:p.Arg293Gln					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R10Q	p.R293Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		5	1067	+			293						Missense_Mutation	SNP	ENST00000254323.2	37	c.878G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998042	0.74818	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.52526	0.97;0.66	4.38	3.34	0.38264	.	0.150151	0.28052	U	0.016786	T	0.58409	0.2120	M	0.76002	2.32	0.25157	N	0.990386	D;P	0.67145	0.996;0.953	P;B	0.56788	0.806;0.444	T	0.50923	-0.8770	10	0.49607	T	0.09	-2.84	9.2963	0.37817	0.1082:0.0:0.8918:0.0	.	10;293	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	293;10	ENSP00000254323:R293Q;ENSP00000405278:R10Q	ENSP00000254323:R293Q	R	+	2	0	ZSWIM4	13780900	0.899000	0.30636	0.796000	0.32109	0.683000	0.39861	3.278000	0.51662	1.994000	0.58287	0.185000	0.17295	CGA		0.731	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		17	33	0	0	0	1	0	17	33				
PPM1A	5494	broad.mit.edu	37	14	60749576	60749576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:60749576C>A	ENST00000395076.4	+	2	585	c.155C>A	c.(154-156)tCg>tAg	p.S52*	PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	52					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGACTTGAATCGTGGTCATTC	0.473																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(154-156)tCg>tAg		protein phosphatase, Mg2+/Mn2+ dependent, 1A							482.0	415.0	438.0					14																	60749576		2203	4300	6503	SO:0001587	stop_gained	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749576C>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.155C>A	14.37:g.60749576C>A	ENSP00000378514:p.Ser52*					PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*	p.S52*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	585	+			52					B5BU11|J3KNM0|O75551	Nonsense_Mutation	SNP	ENST00000395076.4	37	c.155C>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091386	0.94149	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	.	.	.	5.75	4.84	0.62591	.	0.559440	0.21123	N	0.079791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-1.6174	14.8481	0.70275	0.0:0.7681:0.2319:0.0	.	.	.	.	X	125;52;52;52;52;52;52	.	ENSP00000327255:S125X	S	+	2	0	PPM1A	59819329	0.319000	0.24607	0.987000	0.45799	0.876000	0.50452	1.067000	0.30616	2.704000	0.92352	0.591000	0.81541	TCG		0.473	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		13	244	1	0	7.03913e-09	1	8.30459e-09	13	244				
HNRNPCL1	343069	broad.mit.edu	37	1	12907854	12907854	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:12907854C>T	ENST00000317869.6	-	2	514	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	97						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GATCGTTTCACACCTGCGTTT	0.498																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(289-291)Gtg>Atg		heterogeneous nuclear ribonucleoprotein C-like 1							132.0	127.0	129.0					1																	12907854		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907854C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.289G>A	1.37:g.12907854C>T	ENSP00000365370:p.Val97Met						p.V97M	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	514	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.289G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.490334	0.44249	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	1.09	1.09	0.20402	Nucleotide-binding, alpha-beta plait (1);	2.008220	0.04692	U	0.414312	T	0.18759	0.0450	M	0.63843	1.955	0.35124	D	0.767304	B	0.34241	0.444	B	0.42882	0.401	T	0.33111	-0.9881	10	0.36615	T	0.2	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	97	O60812	HNRCL_HUMAN	M	97	ENSP00000365370:V97M	ENSP00000365370:V97M	V	-	1	0	HNRNPCL1	12830441	0.036000	0.19791	0.123000	0.21794	0.019000	0.09904	0.791000	0.26915	0.916000	0.36871	0.416000	0.27883	GTG		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		13	127	0	0	0	1	0	13	127				
MIR548M	100313772	broad.mit.edu	37	X	94318184	94318184	+	RNA	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chrX:94318184T>A	ENST00000408260.1	-	0	41					NR_031667.1				microRNA 548m																		ttgcattactttaatgacaaa	0.333																																						ENST00000408260.1																			0																				83.0	66.0	71.0					X																	94318184		1564	3571	5135			0							g.chrX:94318184T>A			Xq21.33	2011-09-12		2008-12-18	ENSG00000221187	ENSG00000221187		"""ncRNAs / Micro RNAs"""	35331	non-coding RNA	RNA, micro				MIRN548M			Standard	NR_031667		Approved	hsa-mir-548m	uc022agt.1				X.37:g.94318184T>A								NR_031667.1						0	41	-									RNA	SNP	ENST00000408260.1	37																																																																																						0.333	MIR548M-201	KNOWN	basic	miRNA	miRNA		NR_031667		6	12	0	0	0	1	0	6	12				
WIBG	84305	broad.mit.edu	37	12	56296006	56296006	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:56296006G>A	ENST00000408946.2	-	3	416	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R88C|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	89					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCAGGTTACGTTTGGCTGTC	0.577																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(265-267)Cgt>Tgt		within bgcn homolog (Drosophila)							75.0	73.0	74.0					12																	56296006		1974	4162	6136	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56296006G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.265C>T	12.37:g.56296006G>A	ENSP00000386156:p.Arg89Cys					WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R88C|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_3'UTR	p.R89C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			3	416	-			89					B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.265C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476231	0.44044	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.34667	1.35;1.36	5.26	3.39	0.38822	.	0.105395	0.64402	N	0.000005	T	0.25494	0.0620	L	0.39898	1.24	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.003	T	0.11991	-1.0565	10	0.72032	D	0.01	.	3.867	0.09021	0.0816:0.1392:0.5104:0.2689	.	89;88	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	C	89;88	ENSP00000386156:R89C;ENSP00000381271:R88C	ENSP00000381271:R88C	R	-	1	0	WIBG	54582273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.089000	0.57685	0.701000	0.31803	0.655000	0.94253	CGT		0.577	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		19	31	0	0	0	1	0	19	31				
PDK2	5164	broad.mit.edu	37	17	48182745	48182745	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:48182745A>C	ENST00000503176.1	+	3	432	c.271A>C	c.(271-273)Agc>Cgc	p.S91R	PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	91					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.S91C(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GTATGTCCAGAGCCTCCTGGA	0.622									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			1	Substitution - Missense(1)	p.S91C(1)	lung(1)	central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(271-273)Agc>Cgc		pyruvate dehydrogenase kinase, isozyme 2							31.0	29.0	30.0					17																	48182745		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48182745A>C	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.271A>C	17.37:g.48182745A>C	ENSP00000420927:p.Ser91Arg					PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	p.S91R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			3	432	+			91					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.271A>C	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422588	0.83559	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	4.67	4.67	0.58626	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85342	0.1096	10	0.87932	D	0	-13.9741	13.0693	0.59050	1.0:0.0:0.0:0.0	.	91	Q15119	PDK2_HUMAN	R	27;27;91;27;27;27	ENSP00000007708:S27R;ENSP00000427682:S27R;ENSP00000420927:S91R;ENSP00000425265:S27R;ENSP00000425615:S27R;ENSP00000421178:S27R	ENSP00000007708:S27R	S	+	1	0	PDK2	45537744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.819000	0.62664	1.739000	0.51704	0.379000	0.24179	AGC		0.622	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		7	17	0	0	0	1	0	7	17				
CA5A	763	broad.mit.edu	37	16	87960438	87960438	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:87960438A>G	ENST00000309893.2	-	2	321	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	86					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GCTTCATAGGAGACCCTGAGT	0.602																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(256-258)Tcc>Ccc		carbonic anhydrase VA, mitochondrial							69.0	62.0	64.0					16																	87960438		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960438A>G	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.256T>C	16.37:g.87960438A>G	ENSP00000309649:p.Ser86Pro					CA5A_ENST00000568801.1_5'UTR	p.S86P	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	321	-			86					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.256T>C	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	A	9.057	0.993456	0.19043	.	.	ENSG00000174990	ENST00000309893	T	0.73152	-0.72	4.1	0.0138	0.14098	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.983377	0.08326	N	0.963121	T	0.77994	0.4214	H	0.95437	3.67	0.19300	N	0.999973	D	0.60160	0.987	P	0.47603	0.551	T	0.67031	-0.5773	10	0.72032	D	0.01	-18.4699	0.9138	0.01300	0.3272:0.2954:0.1006:0.2769	.	86	P35218	CAH5A_HUMAN	P	86	ENSP00000309649:S86P	ENSP00000309649:S86P	S	-	1	0	CA5A	86517939	0.001000	0.12720	0.141000	0.22245	0.008000	0.06430	-0.134000	0.10436	0.032000	0.15435	-0.501000	0.04562	TCC		0.602	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		11	17	0	0	0	1	0	11	17				
MIR337	442905	broad.mit.edu	37	14	101340870	101340870	+	RNA	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:101340870G>T	ENST00000362281.1	+	0	41				MIR665_ENST00000606903.1_RNA	NR_029889.1				microRNA 337																		TCATACAGGAGTTGATGCACA	0.617																																						ENST00000362281.1																			0																				39.0	49.0	46.0					14																	101340870		1413	3271	4684			0							g.chr14:101340870G>T			14q32.2	2011-09-12		2008-12-18	ENSG00000199151	ENSG00000199151		"""ncRNAs / Micro RNAs"""	31774	non-coding RNA	RNA, micro				MIRN337			Standard	NR_029889		Approved	hsa-mir-337	uc010txi.2				14.37:g.101340870G>T								NR_029889.1						0	41	+									RNA	SNP	ENST00000362281.1	37																																																																																						0.617	MIR337-201	KNOWN	basic	miRNA	miRNA		NR_029889		3	2	1	0	0.184627	1	0.188212	3	2				
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	C	T	rs368898879		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_ENST00000450388.3_Silent_p.F228F|GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1042-1044)ttC>ttT		G protein-coupled receptor 97		C		0,4396		0,0,2198	105.0	101.0	102.0		1044	1.0	1.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		348/550	57718006	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718006C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1044C>T	16.37:g.57718006C>T						RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F|GPR97_ENST00000327655.6_Silent_p.F138F	p.F348F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			9	1205	+			348					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1044C>T	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	40	0	0	0	1	0	14	40				
FREM1	158326	broad.mit.edu	37	9	14846021	14846021	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:14846021C>T	ENST00000380880.3	-	8	2113	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	FREM1_ENST00000380881.4_Missense_Mutation_p.D445N|FREM1_ENST00000422223.2_Missense_Mutation_p.D444N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	444					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D445N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACCAATGTCGTCATTGTCG	0.493																																						ENST00000380881.4																			1	Substitution - Missense(1)	p.D445N(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1333-1335)Gac>Aac		FRAS1 related extracellular matrix 1							62.0	66.0	65.0					9																	14846021		2096	4234	6330	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14846021C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1330G>A	9.37:g.14846021C>T	ENSP00000370262:p.Asp444Asn					FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N	p.D445N			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2148	-			444					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1333G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	2.785	-0.252540	0.05829	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26373	1.74;1.74;1.74	4.91	1.68	0.24146	.	0.366091	0.33916	N	0.004429	T	0.07728	0.0194	N	0.02751	-0.505	0.43061	D	0.994685	B	0.11235	0.004	B	0.04013	0.001	T	0.36744	-0.9735	10	0.02654	T	1	-5.0647	7.6969	0.28600	0.0:0.6311:0.0:0.3689	.	444	Q5H8C1	FREM1_HUMAN	N	445;444;444	ENSP00000370263:D445N;ENSP00000412940:D444N;ENSP00000370262:D444N	ENSP00000370257:D447N	D	-	1	0	FREM1	14836021	0.990000	0.36364	0.997000	0.53966	0.057000	0.15508	0.353000	0.20130	0.099000	0.17552	0.462000	0.41574	GAC		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	10	0	0	0	1	0	8	10				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	95	0	0	0	1	0	4	95				
SRRM4	84530	broad.mit.edu	37	12	119583327	119583327	+	Missense_Mutation	SNP	C	C	T	rs563549457		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:119583327C>T	ENST00000267260.4	+	9	1301	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	305	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCCAGGTCTCGGGGCCAGGA	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(913-915)Cgg>Tgg		serine/arginine repetitive matrix 4							26.0	31.0	30.0					12																	119583327		1962	4156	6118	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583327C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.913C>T	12.37:g.119583327C>T	ENSP00000267260:p.Arg305Trp						p.R305W	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1301	+			305			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.913C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608481	0.66558	.	.	ENSG00000139767	ENST00000267260	T	0.24350	1.86	5.48	3.46	0.39613	.	0.392078	0.28671	N	0.014534	T	0.22627	0.0546	L	0.44542	1.39	0.29963	N	0.819217	D	0.60160	0.987	B	0.43123	0.409	T	0.10359	-1.0633	9	.	.	.	-1.8525	12.5401	0.56165	0.3631:0.6369:0.0:0.0	.	305	A7MD48	SRRM4_HUMAN	W	305	ENSP00000267260:R305W	.	R	+	1	2	SRRM4	118067710	0.989000	0.36119	0.976000	0.42696	0.993000	0.82548	2.288000	0.43514	2.575000	0.86900	0.655000	0.94253	CGG		0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		5	15	0	0	0	1	0	5	15				
NIM1K	167359	broad.mit.edu	37	5	43280301	43280301	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:43280301T>C	ENST00000512796.1	+	4	2280	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	NIM1_ENST00000326035.2_Silent_p.L261L			Q8IY84	NIM1_HUMAN		261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										GGGGGTGCTTTTGTACTTCAT	0.547																																						ENST00000512796.1																			0											c.(781-783)Ttg>Ctg									90.0	80.0	83.0					5																	43280301		2203	4300	6503	SO:0001819	synonymous_variant	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280301T>C																												ENST00000512796.1:c.781T>C	5.37:g.43280301T>C						NIM1_ENST00000326035.2_Silent_p.L261L	p.L261L			Q8IY84	NIM1_HUMAN			4	2280	+			261			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.781T>C	CCDS3943.1																																																																																				0.547	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			3	49	0	0	0	1	0	3	49				
NOD1	10392	broad.mit.edu	37	7	30491972	30491972	+	Missense_Mutation	SNP	G	G	A	rs72551104|rs72551106	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:30491972G>A	ENST00000222823.4	-	6	1586	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGTGGCTGGGGGAGAAGCC	0.677																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1060-1062)cCc>cTc		nucleotide-binding oligomerization domain containing 1							26.0	32.0	30.0					7																	30491972		2201	4300	6501	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491972G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1061C>T	7.37:g.30491972G>A	ENSP00000222823:p.Pro354Leu					NOD1_ENST00000423334.2_3'UTR	p.P354L	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1586	-			354			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1061C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386377	0.61956	.	.	ENSG00000106100	ENST00000222823	T	0.78481	-1.18	5.71	4.82	0.62117	NACHT nucleoside triphosphatase (1);	0.204673	0.52532	D	0.000079	T	0.77458	0.4133	L	0.61387	1.9	0.80722	D	1	P	0.39717	0.684	B	0.43413	0.419	T	0.77851	-0.2434	10	0.52906	T	0.07	.	11.2353	0.48936	0.0:0.2549:0.6133:0.1318	.	354	Q9Y239	NOD1_HUMAN	L	354	ENSP00000222823:P354L	ENSP00000222823:P354L	P	-	2	0	NOD1	30458497	1.000000	0.71417	0.609000	0.28983	0.849000	0.48306	3.628000	0.54259	1.383000	0.46405	0.563000	0.77884	CCC		0.677	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			8	27	0	0	0	1	0	8	27				
TRANK1	9881	broad.mit.edu	37	3	36872850	36872850	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:36872850T>A	ENST00000429976.2	-	21	8339	c.8092A>T	c.(8092-8094)Acc>Tcc	p.T2698S	TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2698							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCATCTGGGTGCCCACTCTT	0.572																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(8092-8094)Acc>Tcc		tetratricopeptide repeat and ankyrin repeat containing 1							49.0	50.0	50.0					3																	36872850		2071	4208	6279	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872850T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8092A>T	3.37:g.36872850T>A	ENSP00000416168:p.Thr2698Ser					TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	p.T2698S			O15050	TRNK1_HUMAN			21	8339	-			2698					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.8092A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	6.078	0.382730	0.11524	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.95;1.55	4.48	-0.197	0.13228	.	1.111240	0.06932	N	0.811275	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	10	0.07482	T	0.82	.	0.5005	0.00579	0.175:0.3001:0.2209:0.304	.	2698	O15050	TRNK1_HUMAN	S	2148;2698;2148	ENSP00000416826:T2148S;ENSP00000416168:T2698S;ENSP00000301807:T2148S	ENSP00000301807:T2148S	T	-	1	0	TRANK1	36847854	0.000000	0.05858	0.063000	0.19743	0.790000	0.44656	0.143000	0.16115	0.033000	0.15463	0.459000	0.35465	ACC		0.572	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	18	0	0	0	1	0	5	18				
TAF6	6878	broad.mit.edu	37	7	99704994	99704994	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:99704994G>T	ENST00000344095.4	-	15	2434	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	637					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCTGAGTGGGGACGGGGAC	0.647																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1909-1911)Cca>Aca		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							42.0	49.0	46.0					7																	99704994		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99704994G>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1909C>A	7.37:g.99704994G>T	ENSP00000344537:p.Pro637Thr					TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T	p.P637T	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2434	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		637					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1909C>A	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669652	0.29693	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.48522	0.89;0.81;0.89;0.89;0.84	5.52	4.65	0.58169	.	0.288959	0.28821	N	0.014028	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26635	0.155;0.097;0.059;0.059;0.155	B;B;B;B;B	0.29598	0.048;0.104;0.048;0.029;0.048	T	0.18116	-1.0347	10	0.17369	T	0.5	-14.8452	10.3105	0.43706	0.0883:0.0:0.9117:0.0	.	674;627;627;637;561	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	T	637;694;637;637;561;674	ENSP00000389575:P637T;ENSP00000419760:P694T;ENSP00000416396:P637T;ENSP00000344537:P637T;ENSP00000399982:P674T	ENSP00000344537:P637T	P	-	1	0	TAF6	99542930	0.978000	0.34361	0.033000	0.17914	0.004000	0.04260	2.549000	0.45803	1.569000	0.49696	0.643000	0.83706	CCA		0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		24	50	1	0	1.22574e-08	1	1.43003e-08	24	50				
KNSTRN	90417	broad.mit.edu	37	15	40675138	40675138	+	Silent	SNP	T	T	C	rs540599208		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:40675138T>C	ENST00000249776.8	+	1	217	c.102T>C	c.(100-102)ttT>ttC	p.F34F	KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000448395.2_Silent_p.F34F|KNSTRN_ENST00000416151.2_Silent_p.F34F	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ACCGGAAGTTTCTATTTGAAA	0.597													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17986	0.0		0.0	False		,,,				2504	0.0					ENST00000416151.2																			0											c.(100-102)ttT>ttC		kinetochore-localized astrin/SPAG5 binding protein							49.0	54.0	52.0					15																	40675138		1854	4097	5951	SO:0001819	synonymous_variant	90417							g.chr15:40675138T>C	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.102T>C	15.37:g.40675138T>C						KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F	p.F34F	NM_001142761.1	NP_001136233.1					1	217	+									Silent	SNP	ENST00000249776.8	37	c.102T>C	CCDS42021.1																																																																																				0.597	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		13	46	0	0	0	1	0	13	46				
RPRD1B	58490	broad.mit.edu	37	20	36686047	36686047	+	Splice_Site	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:36686047G>T	ENST00000373433.4	+	4	930		c.e4+1			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCCCTCTTGGTAGGTCTTGA	0.517											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.e4+1		regulation of nuclear pre-mRNA domain containing 1B							66.0	62.0	63.0					20																	36686047		2203	4300	6503	SO:0001630	splice_region_variant	58490							g.chr20:36686047G>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.528+1G>T	20.37:g.36686047G>T			OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			4	930	+								Q1WDE7|Q6PKF4	Splice_Site	SNP	ENST00000373433.4	37		CCDS13301.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226763	0.79576	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPRD1B	36119461	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.659000	0.74412	2.676000	0.91093	0.655000	0.94253	.		0.517	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	Intron	7	12	1	0	8.12818e-05	1	8.79855e-05	7	12				
CDK5	1020	broad.mit.edu	37	7	150754243	150754243	+	Silent	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:150754243G>C	ENST00000485972.1	-	2	723	c.42C>G	c.(40-42)acC>acG	p.T14T	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Silent_p.T14T|SLC4A2_ENST00000413384.2_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	14	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CAGTTCCGTAGGTGCCTAGGG	0.567																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(40-42)acC>acG		cyclin-dependent kinase 5							198.0	197.0	197.0					7																	150754243		2048	4216	6264	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754243G>C	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.42C>G	7.37:g.150754243G>C						CDK5_ENST00000297518.4_Silent_p.T14T	p.T14T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	2	723	-		Breast(660;0.159)|Ovarian(593;0.182)	14			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.42C>G	CCDS47748.1																																																																																				0.567	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			33	69	0	0	0	1	0	33	69				
MMP25	64386	broad.mit.edu	37	16	3100525	3100525	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:3100525G>T	ENST00000336577.4	+	4	876	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	222					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACGATGAGGAGACCTGGACTT	0.512																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(637-639)gaG>gaT		matrix metallopeptidase 25							42.0	45.0	44.0					16																	3100525		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100525G>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.639G>T	16.37:g.3100525G>T	ENSP00000337816:p.Glu213Asp					MMP25_ENST00000570755.1_3'UTR	p.E213D	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	876	+			213					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.639G>T	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088725	0.76756	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.30714	1.52	5.08	2.72	0.32119	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.131851	0.33691	N	0.004657	T	0.58409	0.2120	M	0.92970	3.365	0.42385	D	0.992503	D;D	0.63880	0.993;0.97	D;P	0.72982	0.979;0.706	T	0.63328	-0.6662	10	0.72032	D	0.01	.	7.3543	0.26711	0.3041:0.0:0.6959:0.0	.	137;213	O43923;Q9NPA2	.;MMP25_HUMAN	D	213;140	ENSP00000337816:E213D	ENSP00000324953:E140D	E	+	3	2	MMP25	3040526	0.864000	0.29904	1.000000	0.80357	0.996000	0.88848	1.233000	0.32648	1.135000	0.42183	0.655000	0.94253	GAG		0.512	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		11	30	1	0	0.000978159	1	0.00102707	11	30				
TEX29	121793	broad.mit.edu	37	13	111973280	111973280	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:111973280C>T	ENST00000283547.1	+	2	172	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	15						integral component of membrane (GO:0016021)											GCGGCACCTCCTGAAGCAATT	0.627																																						ENST00000283547.1																			0											c.(43-45)Ctg>Ttg		testis expressed 29							61.0	64.0	63.0					13																	111973280		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111973280C>T	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.43C>T	13.37:g.111973280C>T							p.L15L	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			2	172	+			15						Silent	SNP	ENST00000283547.1	37	c.43C>T	CCDS9522.1																																																																																				0.627	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		10	71	0	0	0	1	0	10	71				
IGHA1	3493	broad.mit.edu	37	14	106174901	106174901	+	RNA	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:106174901C>G	ENST00000390547.2	-	0	101							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										TGAGTGGCTCCTGGGGGAAGA	0.652																																						ENST00000390547.2																			0																				50.0	62.0	58.0					14																	106174901		2056	4213	6269			0							g.chr14:106174901C>G	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174901C>G														0	101	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.652	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		11	26	0	0	0	1	0	11	26				
BTNL3	10917	broad.mit.edu	37	5	180432567	180432567	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:180432567A>G	ENST00000342868.6	+	8	1280	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	366	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGACAGGGGGAAGAACAATGT	0.478																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1096-1098)Aag>Gag		butyrophilin-like 3							185.0	203.0	197.0					5																	180432567		2190	4285	6475	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432567A>G	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1096A>G	5.37:g.180432567A>G	ENSP00000341787:p.Lys366Glu						p.K366E	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1280	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	366			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1096A>G	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	8.410	0.844000	0.16963	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.60424	0.19	3.0	-5.83	0.02325	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33206	0.0855	N	0.13098	0.295	0.09310	N	1	B;B	0.28667	0.219;0.007	B;B	0.31946	0.138;0.002	T	0.26292	-1.0107	9	0.33940	T	0.23	.	5.4554	0.16588	0.5328:0.1507:0.3165:0.0	.	332;366	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	E	366;332	ENSP00000341787:K366E	ENSP00000341787:K366E	K	+	1	0	BTNL3	180365173	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.351000	0.20096	-1.670000	0.01468	0.164000	0.16699	AAG		0.478	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		3	57	0	0	0	1	0	3	57				
SORCS1	114815	broad.mit.edu	37	10	108434806	108434806	+	Splice_Site	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:108434806C>T	ENST00000263054.6	-	14	1948		c.e14+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTCAACTTACGTCATGATGA	0.403																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.e14+1		sortilin-related VPS10 domain containing receptor 1							122.0	115.0	117.0					10																	108434806		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434806C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1940+1G>A	10.37:g.108434806C>T						SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000344440.6_Splice_Site		NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1948	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37		CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122685	0.77436	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108424796	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	.		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	16	33	0	0	0	1	0	16	33				
RSBN1	54665	broad.mit.edu	37	1	114308829	114308829	+	Silent	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:114308829G>T	ENST00000261441.5	-	7	2245	c.2182C>A	c.(2182-2184)Cga>Aga	p.R728R	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	728						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAATTCTCGCTTTCCAGTT	0.418																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2182-2184)Cga>Aga		round spermatid basic protein 1							219.0	202.0	208.0					1																	114308829		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308829G>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2182C>A	1.37:g.114308829G>T						RSBN1_ENST00000369581.2_5'UTR	p.R728R	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2245	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	728					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2182C>A	CCDS862.1																																																																																				0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		21	60	1	0	1.9806e-07	1	2.26047e-07	21	60				
SNCAIP	9627	broad.mit.edu	37	5	121786541	121786541	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:121786541C>A	ENST00000261368.8	+	10	2261	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SNCAIP_ENST00000261367.7_Missense_Mutation_p.L714M|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	667					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTTAGCCAGGCTGAGACAGCT	0.512																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2140-2142)Ctg>Atg		synuclein, alpha interacting protein							42.0	44.0	44.0					5																	121786541		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786541C>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1999C>A	5.37:g.121786541C>A	ENSP00000261368:p.Leu667Met					CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR	p.L714M			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3568	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	667					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2140C>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965049	0.74131	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.34859	3.25;3.9;1.49;1.34;3.9;3.66;1.34;3.43	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.60983	0.2311	M	0.78049	2.395	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.993;0.999;1.0;0.999;0.994;0.998	T	0.61700	-0.7009	10	0.56958	D	0.05	-13.4087	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	607;295;269;607;301;301;714;667	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	M	225;607;667;714;607;301;714;269;307	ENSP00000441681:L225M;ENSP00000422106:L607M;ENSP00000261368:L667M;ENSP00000368848:L714M;ENSP00000368851:L607M;ENSP00000368854:L301M;ENSP00000261367:L714M;ENSP00000394392:L269M	ENSP00000261367:L714M	L	+	1	2	SNCAIP	121814440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.543000	0.60684	2.882000	0.98803	0.655000	0.94253	CTG		0.512	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			9	20	1	0	5.4927e-09	1	6.55379e-09	9	20				
POU6F2	11281	broad.mit.edu	37	7	39500237	39500237	+	Silent	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:39500237T>A	ENST00000403058.1	+	10	1648	c.1494T>A	c.(1492-1494)ctT>ctA	p.L498L	POU6F2_ENST00000518318.2_Silent_p.L498L|POU6F2_ENST00000559001.1_Silent_p.L443L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	498	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCTGTCCCTTGGCCTGACCC	0.592																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1492-1494)ctT>ctA		POU class 6 homeobox 2							39.0	35.0	36.0					7																	39500237		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500237T>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1494T>A	7.37:g.39500237T>A						POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L	p.L498L			P78424	PO6F2_HUMAN			9	1536	+			498			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1494T>A	CCDS34620.2																																																																																				0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		4	6	0	0	0	1	0	4	6				
EPHB1	2047	broad.mit.edu	37	3	134920475	134920475	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:134920475G>T	ENST00000398015.3	+	12	2660	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCCGACTTTGGCCTCTCCCG	0.522																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2290-2292)Ggc>Tgc		EPH receptor B1							128.0	130.0	130.0					3																	134920475		2198	4298	6496	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920475G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2290G>T	3.37:g.134920475G>T	ENSP00000381097:p.Gly764Cys					EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	p.G764C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			12	2660	+			764			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2290G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907344	0.92107	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.92858	-3.12;-3.12	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	10	0.87932	D	0	.	19.6207	0.95654	0.0:0.0:1.0:0.0	.	764	P54762	EPHB1_HUMAN	C	764;325	ENSP00000381097:G764C;ENSP00000419574:G325C	ENSP00000381097:G764C	G	+	1	0	EPHB1	136403165	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.813000	0.99286	2.707000	0.92482	0.563000	0.77884	GGC		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		15	45	1	0	1.05317e-09	1	1.27107e-09	15	45				
MFSD2B	388931	broad.mit.edu	37	2	24239744	24239744	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:24239744T>C	ENST00000406420.3	+	4	393	c.377T>C	c.(376-378)cTg>cCg	p.L126P	MFSD2B_ENST00000338315.4_Missense_Mutation_p.L126P	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TTCATCGCCCTGGCCTACTTC	0.662																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(376-378)cTg>cCg		major facilitator superfamily domain containing 2B							59.0	65.0	63.0					2																	24239744		2066	4184	6250	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239744T>C		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.377T>C	2.37:g.24239744T>C	ENSP00000385527:p.Leu126Pro					MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P	p.L126P			A6NFX1	MFS2B_HUMAN			4	377	+			126					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.377T>C	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633344	0.47049	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.84070	-1.8;-1.8	4.87	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.471168	0.18967	U	0.126226	T	0.76126	0.3944	L	0.35854	1.095	0.53688	D	0.99997	B	0.29232	0.238	B	0.35353	0.201	T	0.70956	-0.4731	10	0.87932	D	0	-2.3929	8.5553	0.33478	0.0:0.1644:0.0:0.8356	.	126	A6NFX1	MFS2B_HUMAN	P	126	ENSP00000385527:L126P;ENSP00000342501:L126P	ENSP00000342501:L126P	L	+	2	0	MFSD2B	24093248	1.000000	0.71417	0.391000	0.26233	0.353000	0.29299	4.782000	0.62396	0.307000	0.22880	0.418000	0.28097	CTG		0.662	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		11	27	0	0	0	1	0	11	27				
NPTX2	4885	broad.mit.edu	37	7	98256572	98256572	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.D328D(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)gaC>gaT		neuronal pentraxin II							99.0	81.0	87.0					7																	98256572		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256572C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.984C>T	7.37:g.98256572C>T							p.D328D	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1149	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		328			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.984C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		5	37	0	0	0	1	0	5	37				
PTPRC	5788	broad.mit.edu	37	1	198711451	198711451	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:198711451T>C	ENST00000367376.2	+	25	2817	c.2646T>C	c.(2644-2646)taT>taC	p.Y882Y	PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	882	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTATGGTTATGTTGTCAAGC	0.438																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2644-2646)taT>taC		protein tyrosine phosphatase, receptor type, C							228.0	216.0	220.0					1																	198711451		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711451T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2646T>C	1.37:g.198711451T>C						PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y	p.Y882Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			25	2817	+			882			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2646T>C																																																																																					0.438	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				17	91	0	0	0	1	0	17	91				
AC015849.16	0	broad.mit.edu	37	17	34233786	34233786	+	lincRNA	SNP	G	G	A	rs9912571	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:34233786G>A	ENST00000587132.1	-	0	4241																											ATGGACTGGCGAAGTTCCCAC	0.522													G|||	773	0.154353	0.18	0.1859	5008	,	,		21319	0.2123		0.0964	False		,,,				2504	0.0971					ENST00000587132.1																			0																																																			0							g.chr17:34233786G>A																													17.37:g.34233786G>A														0	4241	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.522	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			9	33	0	0	0	1	0	9	33				
ISLR	3671	broad.mit.edu	37	15	74467974	74467974	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:74467974G>A	ENST00000249842.3	+	2	1132	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	ISLR_ENST00000395118.1_Missense_Mutation_p.V259M|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	259	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACTGTGATGTGGACGGGCA	0.642																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(775-777)Gtg>Atg		immunoglobulin superfamily containing leucine-rich repeat							55.0	56.0	56.0					15																	74467974		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467974G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.775G>A	15.37:g.74467974G>A	ENSP00000249842:p.Val259Met					RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M	p.V259M	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1132	+			259			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.775G>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	7.971	0.749028	0.15710	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.75154	-0.91;-0.91	4.21	1.8	0.24995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.612059	0.12995	U	0.422174	D	0.84696	0.5529	M	0.90145	3.09	0.09310	N	1	D	0.61080	0.989	P	0.58077	0.832	T	0.74272	-0.3719	10	0.72032	D	0.01	.	9.8672	0.41152	0.2029:0.0:0.7971:0.0	.	259	O14498	ISLR_HUMAN	M	259	ENSP00000249842:V259M;ENSP00000378550:V259M	ENSP00000249842:V259M	V	+	1	0	ISLR	72255027	0.084000	0.21492	0.199000	0.23439	0.113000	0.19764	2.320000	0.43797	0.739000	0.32628	0.313000	0.20887	GTG		0.642	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		13	45	0	0	0	1	0	13	45				
PI4K2A	55361	broad.mit.edu	37	10	99426205	99426205	+	Nonsense_Mutation	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:99426205C>G	ENST00000370631.3	+	7	1152	c.1095C>G	c.(1093-1095)taC>taG	p.Y365*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	365	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ATCCTTTTTACTGGGCCTGGT	0.473																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1093-1095)taC>taG		phosphatidylinositol 4-kinase type 2 alpha							76.0	73.0	74.0					10																	99426205		2203	4300	6503	SO:0001587	stop_gained	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426205C>G	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1095C>G	10.37:g.99426205C>G	ENSP00000359665:p.Tyr365*					PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	p.Y365*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	7	1152	+		Colorectal(252;0.162)	365			PI3K/PI4K.		D3DR59|Q9NSG8	Nonsense_Mutation	SNP	ENST00000370631.3	37	c.1095C>G	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	38	7.180534	0.98118	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.28	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4394	5.8034	0.18426	0.1498:0.5913:0.0:0.259	.	.	.	.	X	335;365;335	.	ENSP00000359665:Y365X	Y	+	3	2	PI4K2A;RP11-548K23.11	99416195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.858000	0.27845	0.563000	0.29222	0.655000	0.94253	TAC		0.473	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		16	36	0	0	0	1	0	16	36				
PLAG1	5324	broad.mit.edu	37	8	57079728	57079728	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr8:57079728G>A	ENST00000316981.3	-	5	1056	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	PLAG1_ENST00000429357.2_Missense_Mutation_p.R193W|PLAG1_ENST00000423799.2_Missense_Mutation_p.R111W	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	193	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGTAGAACCGGCGATCACAA	0.502			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(577-579)Cgg>Tgg		pleiomorphic adenoma gene 1							73.0	71.0	72.0					8																	57079728		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079728G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.577C>T	8.37:g.57079728G>A	ENSP00000325546:p.Arg193Trp					PLAG1_ENST00000429357.2_Missense_Mutation_p.R193W|PLAG1_ENST00000423799.2_Missense_Mutation_p.R111W	p.R193W	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1056	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	193			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.577C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891765	0.52014	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.19938	2.11;2.11;2.11	5.55	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054022	0.64402	D	0.000001	T	0.37183	0.0994	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03423	-1.1038	10	0.56958	D	0.05	-20.2651	14.3515	0.66705	0.0:0.0:0.528:0.472	.	193	Q6DJT9	PLAG1_HUMAN	W	193;111;193	ENSP00000325546:R193W;ENSP00000404067:R111W;ENSP00000416537:R193W	ENSP00000325546:R193W	R	-	1	2	PLAG1	57242282	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.602000	0.67612	0.140000	0.18849	0.585000	0.79938	CGG		0.502	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	47	0	0	0	1	0	4	47				
NDEL1	81565	broad.mit.edu	37	17	8350176	8350176	+	Silent	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:8350176G>T	ENST00000334527.7	+	4	542	c.345G>T	c.(343-345)gtG>gtT	p.V115V	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	115	Interaction with KATNB1. {ECO:0000250}.|Required for interaction with PAFAH1B1.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						ATAAGTATGTGAGAGAGCTGG	0.433																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(343-345)gtG>gtT		nudE neurodevelopment protein 1-like 1							95.0	89.0	91.0					17																	8350176		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8350176G>T	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.345G>T	17.37:g.8350176G>T						NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V|NDEL1_ENST00000380025.4_Silent_p.V115V	p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			4	542	+			115			Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.345G>T	CCDS11143.1																																																																																				0.433	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		9	26	1	0	3.09899e-07	1	3.49885e-07	9	26				
MSH3	4437	broad.mit.edu	37	5	79965959	79965959	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:79965959C>T	ENST00000265081.6	+	4	703	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	208	Interaction with EXO1.				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)		TCATCAAATACAAGTCATGAA	0.338								Mismatch excision repair (MMR)																													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.(622-624)aCa>aTa	Mismatch excision repair (MMR)	mutS homolog 3							73.0	73.0	73.0					5																	79965959		2203	4300	6503	SO:0001583	missense	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.chr5:79965959C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.623C>T	5.37:g.79965959C>T	ENSP00000265081:p.Thr208Ile						p.T208I	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)	4	703	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	208			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.623C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	8.810	0.935083	0.18206	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86497	-2.13	4.35	-0.644	0.11479	.	1.722360	0.02625	N	0.103715	T	0.72835	0.3510	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.60880	-0.7175	9	.	.	.	10.2607	5.4779	0.16706	0.2771:0.5173:0.2055:0.0	.	208	P20585	MSH3_HUMAN	I	208;199	ENSP00000265081:T208I	.	T	+	2	0	MSH3	80001715	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.315000	0.08081	-0.009000	0.14296	-0.270000	0.10280	ACA		0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		3	38	0	0	0	1	0	3	38				
SDHC	6391	broad.mit.edu	37	1	161326632	161326632	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:161326632T>C	ENST00000367975.2	+	5	554		c.e5+2		SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CGACACTTGGTAAGTTAATTC	0.458			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.e5+2		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						111.0	104.0	106.0					1																	161326632		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326632T>C	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.405+2T>C	1.37:g.161326632T>C						SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.2_Splice_Site|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000513009.1_Intron		NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	554	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)							O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37		CCDS1230.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840525	0.71488	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3972	0.60861	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHC	159593256	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.550000	0.67268	2.104000	0.64026	0.520000	0.50463	.		0.458	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Intron	26	77	0	0	0	1	0	26	77				
PCDHGB6	56100	broad.mit.edu	37	5	140788913	140788913	+	Missense_Mutation	SNP	G	G	A	rs573212606		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140788913G>A	ENST00000520790.1	+	1	1144	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAGAAGTCAGGTGTAA	0.433																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1144-1146)Gtc>Atc									52.0	52.0	52.0					5																	140788913		1880	4118	5998	SO:0001583	missense	0							g.chr5:140788913G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1144G>A	5.37:g.140788913G>A	ENSP00000428603:p.Val382Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.V382I	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1144	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1144G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.199942	0.38905	.	.	ENSG00000253305	ENST00000520790	T	0.47528	0.84	5.47	3.35	0.38373	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42743	0.1216	L	0.37561	1.115	0.24512	N	0.994201	P;P	0.39551	0.678;0.675	B;B	0.43950	0.437;0.247	T	0.22068	-1.0227	9	0.36615	T	0.2	.	10.5332	0.44988	0.2364:0.0:0.7636:0.0	.	382;382	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	I	382	ENSP00000428603:V382I	ENSP00000428603:V382I	V	+	1	0	PCDHGB6	140769097	0.977000	0.34250	0.995000	0.50966	0.964000	0.63967	1.740000	0.38228	1.306000	0.44926	0.563000	0.77884	GTC		0.433	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		10	19	0	0	0	1	0	10	19				
EXOSC5	56915	broad.mit.edu	37	19	41897754	41897754	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:41897754C>T	ENST00000221233.4	-	3	526	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	126					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGAGCCGGCATCGCTGACA	0.622																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(376-378)Gcc>Acc		exosome component 5							72.0	66.0	68.0					19																	41897754		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41897754C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.376G>A	19.37:g.41897754C>T	ENSP00000221233:p.Ala126Thr					EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A126T	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			3	526	-			126					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.376G>A	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761152	0.31137	.	.	ENSG00000077348	ENST00000221233	T	0.62941	-0.01	5.35	2.95	0.34219	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.221935	0.45361	N	0.000372	T	0.47948	0.1473	L	0.36672	1.1	0.35115	D	0.766503	B	0.06786	0.001	B	0.08055	0.003	T	0.49551	-0.8928	10	0.27785	T	0.31	-5.0933	9.6797	0.40063	0.0:0.8006:0.0:0.1994	.	126	Q9NQT4	EXOS5_HUMAN	T	126	ENSP00000221233:A126T	ENSP00000221233:A126T	A	-	1	0	EXOSC5	46589594	1.000000	0.71417	0.988000	0.46212	0.934000	0.57294	3.464000	0.53057	0.616000	0.30141	0.655000	0.94253	GCC		0.622	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		14	29	0	0	0	1	0	14	29				
LMOD2	442721	broad.mit.edu	37	7	123296111	123296111	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:123296111G>C	ENST00000458573.2	+	1	251	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	32	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)											GGAGCTGAAGGAGCTAGAGAG	0.537																																						ENST00000458573.2																			0											c.(94-96)Gag>Cag		leiomodin 2 (cardiac)							50.0	53.0	52.0					7																	123296111		1950	4148	6098	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296111G>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.94G>C	7.37:g.123296111G>C	ENSP00000411932:p.Glu32Gln					LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			1	251	+			32			Glu-rich.|Tropomyosin-binding (By similarity).		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.94G>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109446	0.94292	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.25912	1.77;1.77	5.77	5.77	0.91146	.	0.000000	0.37136	N	0.002237	T	0.39517	0.1081	N	0.26042	0.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.05162	-1.0902	10	0.20046	T	0.44	-14.3688	19.9983	0.97395	0.0:0.0:1.0:0.0	.	32	Q6P5Q4	LMOD2_HUMAN	Q	32	ENSP00000411932:E32Q;ENSP00000398975:E32Q	ENSP00000405123:E32Q	E	+	1	0	LMOD2	123083347	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	GAG		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			9	6	0	0	0	1	0	9	6				
DDX39B	7919	broad.mit.edu	37	6	31499163	31499163	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:31499163G>C	ENST00000396172.1	-	8	1517	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C|DDX39B_ENST00000417556.2_Missense_Mutation_p.S311C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	296	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCGCTGCACAGACTTCACAAA	0.587																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(931-933)tCt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							60.0	58.0	58.0					6																	31499163		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31499163G>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.887C>G	6.37:g.31499163G>C	ENSP00000379475:p.Ser296Cys					DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C	p.S311C			Q13838	DX39B_HUMAN			9	1562	-			296			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.932C>G	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419892|4.419892	0.83559|0.83559	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000417023|ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908	.|D;T;T;T;T;T	.|0.92858	.|-3.12;3.37;3.37;3.37;3.37;3.37	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Helicase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96018|0.96018	0.8703|0.8703	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.985;0.999;0.997;0.985	.|D;P;P;P;P	.|0.66497	.|0.944;0.803;0.851;0.809;0.708	D|D	0.96055|0.96055	0.9034|0.9034	5|10	.|0.87932	.|D	.|0	-15.951|-15.951	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|218;296;296;311;195	.|B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1	.|.;DX39B_HUMAN;.;.;.	V|C	60|296;296;296;311;218;218	.|ENSP00000365347:S296C;ENSP00000416269:S296C;ENSP00000379475:S296C;ENSP00000412582:S311C;ENSP00000392669:S218C;ENSP00000408000:S218C	.|ENSP00000365347:S296C	L|S	-|-	1|2	2|0	DDX39B|DDX39B	31607142|31607142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	8.873000|8.873000	0.92357|0.92357	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.587	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		6	25	0	0	0	1	0	6	25				
ZNF629	23361	broad.mit.edu	37	16	30795098	30795098	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:30795098C>T	ENST00000262525.4	-	3	758	c.551G>A	c.(550-552)gGc>gAc	p.G184D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GAAGCTCTTGCCGCACTCGGA	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(550-552)gGc>gAc		zinc finger protein 629							42.0	43.0	43.0					16																	30795098		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795098C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.551G>A	16.37:g.30795098C>T	ENSP00000262525:p.Gly184Asp						p.G184D	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	758	-			184					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.551G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180777	0.57800	.	.	ENSG00000102870	ENST00000262525	T	0.01430	4.9	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000289	T	0.06005	0.0156	L	0.59436	1.845	0.40906	D	0.98419	D	0.89917	1.0	D	0.85130	0.997	T	0.11275	-1.0594	10	0.62326	D	0.03	-37.8381	10.9511	0.47330	0.0:0.9115:0.0:0.0885	.	184	Q9UEG4	ZN629_HUMAN	D	184	ENSP00000262525:G184D	ENSP00000262525:G184D	G	-	2	0	ZNF629	30702599	0.705000	0.27846	1.000000	0.80357	0.980000	0.70556	1.535000	0.36061	2.459000	0.83118	0.561000	0.74099	GGC		0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	23	0	0	0	1	0	4	23				
ADAMTS18	170692	broad.mit.edu	37	16	77396062	77396062	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:77396062C>A	ENST00000282849.5	-	7	1574	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTAAGATGGCATGATCATGT	0.418																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1156-1158)Gcc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							157.0	132.0	140.0					16																	77396062		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396062C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1156G>T	16.37:g.77396062C>A	ENSP00000282849:p.Ala386Ser						p.A386S	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			7	1574	-			386			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1156G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926236	0.92319	.	.	ENSG00000140873	ENST00000282849	T	0.70869	-0.52	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.85696	0.1310	10	0.52906	T	0.07	.	18.0516	0.89351	0.0:1.0:0.0:0.0	.	386	Q8TE60	ATS18_HUMAN	S	386	ENSP00000282849:A386S	ENSP00000282849:A386S	A	-	1	0	ADAMTS18	75953563	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	7.604000	0.82830	2.733000	0.93635	0.655000	0.94253	GCC		0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			3	29	1	0	1	1	1	3	29				
SNAP91	9892	broad.mit.edu	37	6	84269827	84269827	+	Missense_Mutation	SNP	G	G	A	rs368296899		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:84269827G>A	ENST00000439399.2	-	28	2943	c.2627C>T	c.(2626-2628)aCg>aTg	p.T876M	SNAP91_ENST00000521743.1_Missense_Mutation_p.T876M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T871M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T846M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T569M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T871M|SNAP91_ENST00000428679.2_Missense_Mutation_p.T876M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T569M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T876M	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	876	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACTGACCTGCGTGCCAGGTAC	0.478																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2626-2628)aCg>aTg		synaptosomal-associated protein, 91kDa		G	MET/THR,MET/THR,MET/THR,MET/THR	1,3859		0,1,1929	60.0	60.0	60.0		2627,2537,1706,2627	5.6	1.0	6		60	0,8276		0,0,4138	no	missense,missense,missense,missense	SNAP91	NM_001242792.1,NM_001242793.1,NM_001242794.1,NM_014841.2	81,81,81,81	0,1,6067	AA,AG,GG		0.0,0.0259,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	876/908,846/878,569/601,876/908	84269827	1,12135	1930	4138	6068	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84269827G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2627C>T	6.37:g.84269827G>A	ENSP00000400459:p.Thr876Met					SNAP91_ENST00000195649.6_Missense_Mutation_p.T871M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T876M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T569M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T876M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T846M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T569M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T876M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T871M	p.T876M			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	28	3220	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	876			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2627C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173713	0.78452	2.59E-4	0.0	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.26810	2.28;2.28;2.28;2.28;2.28;2.34;2.3;2.28;2.34;1.71	5.62	5.62	0.85841	.	0.339698	0.32802	N	0.005639	T	0.20820	0.0501	N	0.24115	0.695	0.22819	N	0.998697	P;D;D;D;P	0.69078	0.898;0.997;0.971;0.971;0.832	B;P;P;P;B	0.60236	0.154;0.871;0.474;0.474;0.306	T	0.06917	-1.0800	10	0.87932	D	0	-6.2075	13.3527	0.60611	0.0814:0.0:0.9186:0.0	.	752;569;846;876;874	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	M	871;876;876;871;876;569;846;876;569;217	ENSP00000429776:T871M;ENSP00000358708:T876M;ENSP00000400459:T876M;ENSP00000195649:T871M;ENSP00000412492:T876M;ENSP00000413277:T569M;ENSP00000428511:T846M;ENSP00000428215:T876M;ENSP00000428026:T569M;ENSP00000430255:T217M	ENSP00000195649:T871M	T	-	2	0	SNAP91	84326546	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.448000	0.66612	2.650000	0.89964	0.561000	0.74099	ACG		0.478	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			9	36	0	0	0	1	0	9	36				
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22.0	31.0	28.0					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	76	0	0	0	1	0	5	76				
EOMES	8320	broad.mit.edu	37	3	27760935	27760935	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:27760935A>T	ENST00000295743.4	-	3	1277	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	EOMES_ENST00000537516.1_Silent_p.T63T|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T			O95936	EOMES_HUMAN	eomesodermin	358					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGTGGGAACCAGTATTAGGAG	0.403																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1072-1074)acT>acA		eomesodermin							177.0	166.0	170.0					3																	27760935		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27760935A>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1074T>A	3.37:g.27760935A>T						EOMES_ENST00000537516.1_Silent_p.T63T|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000461503.1_5'UTR	p.T358T			O95936	EOMES_HUMAN			3	1277	-			358					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.1074T>A	CCDS2646.1																																																																																				0.403	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		22	75	0	0	0	1	0	22	75				
AOC3	8639	broad.mit.edu	37	17	41004623	41004623	+	Silent	SNP	C	C	G	rs141617446		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:41004623C>G	ENST00000308423.2	+	1	1423	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	421					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTCCCAGGCCCCCAAGACAA	0.592																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1261-1263)gcC>gcG		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						84.0	75.0	78.0					17																	41004623		2203	4300	6503	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004623C>G	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1263C>G	17.37:g.41004623C>G							p.A421A	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1423	+		Breast(137;0.000143)	421					B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.1263C>G	CCDS11444.1																																																																																				0.592	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	32	0	0	0	1	0	7	32				
MRC2	9902	broad.mit.edu	37	17	60765674	60765674	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:60765674C>T	ENST00000303375.5	+	21	3373	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	991	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCCAGGAACCCCAGAGCCG	0.607																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2971-2973)Ccc>Tcc		mannose receptor, C type 2							43.0	37.0	39.0					17																	60765674		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60765674C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2971C>T	17.37:g.60765674C>T	ENSP00000307513:p.Pro991Ser					MRC2_ENST00000446119.2_5'UTR	p.P991S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			21	3373	+			991			C-type lectin 6.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2971C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367846	0.24771	.	.	ENSG00000011028	ENST00000303375	T	0.06371	3.31	4.96	3.99	0.46301	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.324093	0.33005	N	0.005383	T	0.05318	0.0141	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	T	0.41502	-0.9505	10	0.13108	T	0.6	-22.2988	9.2662	0.37643	0.0:0.8989:0.0:0.1011	.	991	Q9UBG0	MRC2_HUMAN	S	991	ENSP00000307513:P991S	ENSP00000307513:P991S	P	+	1	0	MRC2	58119406	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	2.287000	0.43505	1.071000	0.40834	0.561000	0.74099	CCC		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			8	23	0	0	0	1	0	8	23				
BAIAP2L2	80115	broad.mit.edu	37	22	38494424	38494424	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:38494424G>A	ENST00000381669.3	-	5	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	114	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(340-342)ttC>ttT		BAI1-associated protein 2-like 2							95.0	100.0	98.0					22																	38494424		2077	4204	6281	SO:0001819	synonymous_variant	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38494424G>A	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.342C>T	22.37:g.38494424G>A			OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			5	486	-	Melanoma(58;0.045)		114			IMD.		B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	c.342C>T	CCDS43018.1																																																																																				0.597	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		8	39	0	0	0	1	0	8	39				
APOC3	345	broad.mit.edu	37	11	116701559	116701559	+	Silent	SNP	C	C	A	rs533891893		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:116701559C>A	ENST00000227667.3	+	3	188	c.126C>A	c.(124-126)acC>acA	p.T42T	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Silent_p.T60T	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	42					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647																																					GBM(81;259 1650 7161 35190)	ENST00000375345.1																			0				endometrium(1)|lung(6)	7						c.(178-180)acC>acA		apolipoprotein C-III							49.0	44.0	46.0					11																	116701559		2201	4296	6497	SO:0001819	synonymous_variant	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701559C>A	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.126C>A	11.37:g.116701559C>A						APOC3_ENST00000227667.3_Silent_p.T42T|APOC3_ENST00000470144.1_3'UTR	p.T60T			P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	242	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	42					Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	c.180C>A	CCDS8377.1																																																																																				0.647	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		4	11	1	0	0.00024832	1	0.000266057	4	11				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	48	0	0	0	1	0	5	48				
LINGO1	84894	broad.mit.edu	37	15	77907021	77907021	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:77907021A>T	ENST00000355300.6	-	2	1402	c.1228T>A	c.(1228-1230)Ttc>Atc	p.F410I	LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	410	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACATCAGGGAAGTCCTTGAAC	0.662																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1228-1230)Ttc>Atc		leucine rich repeat and Ig domain containing 1							19.0	25.0	23.0					15																	77907021		2097	4202	6299	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907021A>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1228T>A	15.37:g.77907021A>T	ENSP00000347451:p.Phe410Ile					LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	p.F410I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1402	-			410			LRRCT.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1228T>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161035	0.78226	.	.	ENSG00000169783	ENST00000355300	T	0.51574	0.7	4.93	4.93	0.64822	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.41710	1.295	0.80722	D	1	D	0.65815	0.995	P	0.58970	0.849	T	0.46020	-0.9221	10	0.21014	T	0.42	.	14.5809	0.68288	1.0:0.0:0.0:0.0	.	410	Q96FE5	LIGO1_HUMAN	I	410	ENSP00000347451:F410I	ENSP00000347451:F410I	F	-	1	0	LINGO1	75694076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	1.850000	0.53721	0.379000	0.24179	TTC		0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	10	0	0	0	1	0	5	10				
WDR46	9277	broad.mit.edu	37	6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	rs141256696	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33255194G>A	ENST00000374617.4	-	8	1173	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	273							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(817-819)Cgc>Tgc		WD repeat domain 46		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	95.0	90.0	92.0		655,817	4.4	1.0	6	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	WDR46	NM_001164267.1,NM_005452.5	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	219/557,273/611	33255194	4,13002	2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255194G>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.817C>T	6.37:g.33255194G>A	ENSP00000363746:p.Arg273Cys						p.R273C	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			8	1173	-			273					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.817C>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332534	0.60853	9.08E-4	0.0	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.18502	4.94;2.21	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.124663	0.50627	D	0.000118	T	0.23210	0.0561	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.69654	0.964;0.965	T	0.00888	-1.1526	10	0.87932	D	0	-16.3035	9.7563	0.40504	0.0:0.0:0.7942:0.2058	.	219;273	B4DP15;O15213	.;WDR46_HUMAN	C	273;200	ENSP00000363746:R273C;ENSP00000405568:R200C	ENSP00000363746:R273C	R	-	1	0	WDR46	33363172	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	3.728000	0.54991	2.278000	0.76064	0.549000	0.68633	CGC		0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		12	35	0	0	0	1	0	12	35				
ATP10D	57205	broad.mit.edu	37	4	47538814	47538814	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:47538814C>A	ENST00000273859.3	+	9	1524	c.1255C>A	c.(1255-1257)Cag>Aag	p.Q419K	ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	419					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATTGTTCAGTGCCGAGC	0.393																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1255-1257)Cag>Aag		ATPase, class V, type 10D							57.0	56.0	56.0					4																	47538814		2203	4299	6502	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538814C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1255C>A	4.37:g.47538814C>A	ENSP00000273859:p.Gln419Lys					ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	p.Q419K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1524	+			419					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1255C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059093	0.55325	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;T	0.88509	-2.39;-0.11	5.38	5.38	0.77491	.	0.067986	0.64402	D	0.000010	D	0.89382	0.6699	L	0.51914	1.62	0.41360	D	0.987427	D;P	0.54207	0.965;0.604	P;B	0.52598	0.703;0.434	D	0.87909	0.2696	10	0.32370	T	0.25	-15.4753	13.8154	0.63287	0.0:0.8469:0.1531:0.0	.	419;404	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	419;404	ENSP00000273859:Q419K;ENSP00000420909:Q404K	ENSP00000273859:Q419K	Q	+	1	0	ATP10D	47233571	1.000000	0.71417	0.885000	0.34714	0.027000	0.11550	4.882000	0.63121	2.535000	0.85469	0.650000	0.86243	CAG		0.393	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		8	33	1	0	5.68852e-11	1	7.027e-11	8	33				
ZC3H11A	9877	broad.mit.edu	37	1	203787773	203787773	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:203787773C>G	ENST00000545588.1	+	3	3957	c.130C>G	c.(130-132)Cgc>Ggc	p.R44G	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R44G	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	44					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAAGAAGGGCGCTGTTTTCG	0.438																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(130-132)Cgc>Ggc		zinc finger CCCH-type containing 11A							126.0	109.0	114.0					1																	203787773		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203787773C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.130C>G	1.37:g.203787773C>G	ENSP00000438527:p.Arg44Gly					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R44G|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R44G	p.R44G	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	3957	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		44					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.130C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292894	0.80914	.	.	ENSG00000058673	ENST00000432282;ENST00000453771;ENST00000367214;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.42	5.42	0.78866	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.50333	1.59	0.54753	D	0.99998	D	0.65815	0.995	P	0.61328	0.887	T	0.60657	-0.7220	10	0.52906	T	0.07	-11.0171	16.133	0.81458	0.0:1.0:0.0:0.0	.	44	O75152	ZC11A_HUMAN	G	44	ENSP00000356183:R44G;ENSP00000356181:R44G;ENSP00000333253:R44G;ENSP00000438527:R44G;ENSP00000356179:R44G	ENSP00000333253:R44G	R	+	1	0	ZC3H11A	202054396	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	3.249000	0.51437	2.550000	0.86006	0.650000	0.86243	CGC		0.438	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		17	62	0	0	0	1	0	17	62				
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33245707G>A	ENST00000451237.1	+	1	791	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	171					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGCCCGATACGTCCTCAAGAC	0.587																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(511-513)Gtc>Atc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							71.0	75.0	74.0					6																	33245707		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245707G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.511G>A	6.37:g.33245707G>A	ENSP00000390784:p.Val171Ile						p.V171I	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	791	+			171						Missense_Mutation	SNP	ENST00000451237.1	37	c.511G>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513108	0.00975	.	.	ENSG00000235863	ENST00000451237	T	0.35048	1.33	4.82	-3.61	0.04556	.	0.489229	0.20154	N	0.098093	T	0.02807	0.0084	N	0.02158	-0.66	0.25379	N	0.988631	B	0.13594	0.008	B	0.14023	0.01	T	0.41875	-0.9484	10	0.07813	T	0.8	.	9.9227	0.41474	0.2194:0.1475:0.6331:0.0	.	171	O96024	B3GT4_HUMAN	I	171	ENSP00000390784:V171I	ENSP00000390784:V171I	V	+	1	0	B3GALT4	33353685	0.002000	0.14202	0.958000	0.39756	0.004000	0.04260	-0.846000	0.04336	-0.543000	0.06240	-0.366000	0.07423	GTC		0.587	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			4	68	0	0	0	1	0	4	68				
ITIH4	3700	broad.mit.edu	37	3	52858573	52858573	+	Missense_Mutation	SNP	T	T	G	rs373129789		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:52858573T>G	ENST00000266041.4	-	8	981	c.885A>C	c.(883-885)gaA>gaC	p.E295D	ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGATTAGGGCTTCCCGGGTCT	0.577																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(883-885)gaA>gaC		inter-alpha-trypsin inhibitor heavy chain family, member 4							88.0	87.0	87.0					3																	52858573		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858573T>G	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.885A>C	3.37:g.52858573T>G	ENSP00000266041:p.Glu295Asp					ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	p.E295D	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	8	981	-			295			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.885A>C	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.01|16.01	2.999938|2.999938	0.54147|0.54147	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71|.	5.35|5.35	1.43|1.43	0.22495|0.22495	von Willebrand factor, type A (3);|.	0.164522|.	0.40908|.	D|.	0.000991|.	T|T	0.54271|0.54271	0.1848|0.1848	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.40032|.	0.426;0.673;0.673;0.699|.	B;B;B;P|.	0.50896|.	0.284;0.284;0.284;0.653|.	T|T	0.45131|0.45131	-0.9282|-0.9282	10|5	0.45353|.	T|.	0.12|.	-9.1338|-9.1338	5.3587|5.3587	0.16075|0.16075	0.1219:0.2541:0.0:0.6241|0.1219:0.2541:0.0:0.6241	.|.	295;295;295;295|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	D|R	295;295;295;295;283;207|153	ENSP00000266041:E295D;ENSP00000340520:E295D;ENSP00000417824:E295D;ENSP00000384425:E295D;ENSP00000440036:E207D|.	ENSP00000266041:E295D|.	E|S	-|-	3|1	2|0	ITIH4|ITIH4	52833613|52833613	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.103000|0.103000	0.15292|0.15292	0.348000|0.348000	0.23949|0.23949	0.459000|0.459000	0.35465|0.35465	GAA|AGC		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	27	0	0	0	1	0	8	27				
ATP13A5	344905	broad.mit.edu	37	3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(100-102)gCc>gTc		ATPase type 13A5							161.0	164.0	163.0					3																	193082032		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082032G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.101C>T	3.37:g.193082032G>A	ENSP00000341942:p.Ala34Val						p.A34V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	218	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		34					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.101C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733250	0.15574	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.21031	2.03;2.03	5.5	0.605	0.17553	.	0.202289	0.34750	N	0.003708	T	0.13927	0.0337	L	0.37630	1.12	0.09310	N	1	B	0.12013	0.005	B	0.23574	0.047	T	0.36237	-0.9756	10	0.11485	T	0.65	-0.89	9.8585	0.41101	0.3824:0.0:0.6176:0.0	.	34	Q4VNC0	AT135_HUMAN	V	34;56	ENSP00000341942:A34V;ENSP00000389416:A56V	ENSP00000341942:A34V	A	-	2	0	ATP13A5	194564726	0.001000	0.12720	0.007000	0.13788	0.010000	0.07245	0.298000	0.19120	0.115000	0.18071	-0.142000	0.14014	GCC		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		35	61	0	0	0	1	0	35	61				
SIGLEC8	27181	broad.mit.edu	37	19	51958791	51958791	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:51958791C>T	ENST00000321424.3	-	4	998	c.932G>A	c.(931-933)gGg>gAg	p.G311E	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	311	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCCAGCAGCCCAGGGTTTGA	0.642																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(931-933)gGg>gAg		sialic acid binding Ig-like lectin 8							47.0	45.0	46.0					19																	51958791		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958791C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.932G>A	19.37:g.51958791C>T	ENSP00000321077:p.Gly311Glu					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	p.G311E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	998	-		all_neural(266;0.0199)	311			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.932G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.643027	0.29246	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.24538	1.85;1.85;1.85	2.19	-1.8	0.07907	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196964	0.24937	N	0.034403	T	0.31979	0.0814	M	0.82193	2.58	0.09310	N	1	P;P;P	0.49185	0.92;0.866;0.494	P;P;B	0.53006	0.715;0.461;0.314	T	0.17167	-1.0378	10	0.30854	T	0.27	.	0.8358	0.01140	0.2387:0.3661:0.235:0.1601	.	202;218;311	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	202;311;218	ENSP00000389142:G202E;ENSP00000321077:G311E;ENSP00000339448:G218E	ENSP00000321077:G311E	G	-	2	0	SIGLEC8	56650603	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.943000	0.29030	-0.307000	0.08804	-0.457000	0.05445	GGG		0.642	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		11	28	0	0	0	1	0	11	28				
ADAM19	8728	broad.mit.edu	37	5	156915452	156915452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:156915452G>A	ENST00000517905.1	-	21	2415	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000257527.4_Missense_Mutation_p.P791S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGGCCGGGGAGGAGGCTGG	0.617																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2371-2373)Ccc>Tcc		ADAM metallopeptidase domain 19							35.0	37.0	36.0					5																	156915452		2200	4293	6493	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915452G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2371C>T	5.37:g.156915452G>A	ENSP00000428654:p.Pro791Ser					ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S	p.P791S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2449	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	791					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2371C>T		.	.	.	.	.	.	.	.	.	.	G	13.14	2.147651	0.37923	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.01584	4.75;4.84;4.86;4.82	5.58	3.75	0.43078	.	0.089642	0.49305	N	0.000145	T	0.02929	0.0087	L	0.55834	1.745	0.29022	N	0.886236	D;D;B	0.56521	0.976;0.958;0.149	P;P;B	0.51701	0.677;0.477;0.039	T	0.28267	-1.0049	10	0.13853	T	0.58	.	3.839	0.08906	0.2059:0.0:0.4771:0.317	.	791;791;524	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	S	524;791;793;791	ENSP00000414088:P524S;ENSP00000257527:P791S;ENSP00000377588:P793S;ENSP00000428654:P791S	ENSP00000257527:P791S	P	-	1	0	ADAM19	156848030	1.000000	0.71417	0.969000	0.41365	0.190000	0.23558	2.496000	0.45346	0.674000	0.31244	0.491000	0.48974	CCC		0.617	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		14	38	0	0	0	1	0	14	38				
DACH2	117154	broad.mit.edu	37	X	85769329	85769329	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chrX:85769329A>G	ENST00000373125.4	+	3	575	c.575A>G	c.(574-576)gAa>gGa	p.E192G	DACH2_ENST00000373131.1_Missense_Mutation_p.E179G|DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000510272.1_5'UTR	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	192					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGTTGCAGGAAAATGCCCGC	0.458																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(535-537)gAa>gGa		dachshund homolog 2 (Drosophila)							53.0	45.0	48.0					X																	85769329		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769329A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.575A>G	X.37:g.85769329A>G	ENSP00000362217:p.Glu192Gly					DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373125.4_Missense_Mutation_p.E192G|DACH2_ENST00000510272.1_5'UTR	p.E179G	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	699	+			192					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.536A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564838	0.45694	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.85629	-2.01;-1.91	4.88	4.88	0.63580	.	0.159935	0.41938	D	0.000786	T	0.80243	0.4587	L	0.48642	1.525	0.80722	D	1	P;B;B	0.37914	0.611;0.014;0.002	B;B;B	0.33750	0.169;0.047;0.007	T	0.81750	-0.0790	10	0.66056	D	0.02	.	13.6528	0.62320	1.0:0.0:0.0:0.0	.	58;179;192	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	G	192;179;192;25;25	ENSP00000362223:E179G;ENSP00000362217:E192G	ENSP00000345134:E192G	E	+	2	0	DACH2	85655985	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.226000	0.72277	1.597000	0.50072	0.412000	0.27726	GAA		0.458	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		6	2	0	0	0	1	0	6	2				
CPA3	1359	broad.mit.edu	37	3	148582959	148582960	+	5'Flank	INS	-	-	A	rs143382113		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:148582959_148582960insA	ENST00000296046.3	+	0	0				RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)						angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTCCAGCTGGAAAAAAAAAAC	0.436																																						ENST00000488190.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:148582959_148582960insA		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526		3.37:g.148582969_148582969dupA	Exception_encountered													0	304	-								Q96E94	RNA	INS	ENST00000296046.3	37		CCDS3138.1																																																																																				0.436	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		3	3						3	3	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39902050	39902050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:39902050delG	ENST00000340692.5	-	1	110	c.107delC	c.(106-108)gcgfs	p.A36fs	MOCS1_ENST00000308559.7_Frame_Shift_Del_p.A36fs|MOCS1_ENST00000373195.3_5'UTR|MOCS1_ENST00000373188.2_Frame_Shift_Del_p.A36fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	36	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAGCTCGCGCGGACTCCCC	0.746																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(106-108)ggfs		molybdenum cofactor synthesis 1							2.0	4.0	3.0					6																	39902050		1470	3407	4877	SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39902050delG	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.107delC	6.37:g.39902050delG	ENSP00000344794:p.Ala36fs					MOCS1_ENST00000373195.3_5'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Del_p.A36fs|MOCS1_ENST00000373188.2_Frame_Shift_Del_p.A36fs	p.A36fs			Q9NZB8	MOCS1_HUMAN			1	240	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		36			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Del	DEL	ENST00000340692.5	37	c.107delC																																																																																					0.746	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		2	4						2	4	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117168903	117168904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:117168903_117168904insG	ENST00000362057.3	-	9	2135_2136	c.1967_1968insC	c.(1966-1968)cctfs	p.P656fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.P273fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.P305fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	656	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGTTGGCAGGGGAGACGGA	0.688																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1966-1968)cgcfs		deafness, autosomal recessive 31																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117168903_117168904insG	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1968dupC	9.37:g.117168907_117168907dupG	ENSP00000354623:p.Pro656fs					DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.R273fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.R305fs	p.R656fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			9	2135_2136	-			656			Pro-rich.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1967_1968insC	CCDS6806.1																																																																																				0.688	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		14	68						14	68	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16919012	16919020	+	In_Frame_Del	DEL	GTAGCAAAT	GTAGCAAAT	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:16919012_16919020delGTAGCAAAT	ENST00000377833.4	-	57	9047_9055	c.8982_8990delATTTGCTAC	c.(8980-8991)ccatttgctact>cct	p.FAT2995del		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2995	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCACACACAGTAGCAAATGGGGTGGACA	0.531																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8980-8991)cct>cc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001651	inframe_deletion	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16919012_16919020delGTAGCAAAT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8982_8990delATTTGCTAC	10.37:g.16919012_16919020delGTAGCAAAT	ENSP00000367064:p.Phe2995_Thr2997del						p.PFAT2994del	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			57	9047_9055	-			2994			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	In_Frame_Del	DEL	ENST00000377833.4	37	c.8982_8990delATTTGCTAC	CCDS7113.1																																																																																				0.531	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	68						15	68	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911237	32911237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:32911237delT	ENST00000380152.3	+	11	2978	c.2745delT	c.(2743-2745)actfs	p.T915fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.T915fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	915	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGACTTGACTTGTGTAAACG	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2743-2745)acfs	Homologous recombination	breast cancer 2, early onset							68.0	71.0	70.0					13																	32911237		2203	4298	6501	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911237delT	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2745delT	13.37:g.32911237delT	ENSP00000369497:p.Thr915fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs	p.T915fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2972	+		Lung SC(185;0.0262)	915			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.2745delT	CCDS9344.1																																																																																				0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	34						17	34	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	lincRNA	DEL	C	C	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488																																						ENST00000561541.1																			0																																																			0							g.chr16:33070154delC																													16.37:g.33070154delC														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.488	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			3	6						3	6	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67688783	67688799	+	Frame_Shift_Del	DEL	GCCGAAGGCAAGAGGAA	GCCGAAGGCAAGAGGAA	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:67688783_67688799delGCCGAAGGCAAGAGGAA	ENST00000334583.6	+	32	4013_4029	c.3685_3701delGCCGAAGGCAAGAGGAA	c.(3685-3702)gccgaaggcaagaggaagfs	p.AEGKRK1229fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.AEGKRK1193fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1229					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCGGGGGTGCCGAAGGCAAGAGGAAGCAAGTGAGT	0.571																																						ENST00000334583.6																			2	Substitution - Missense(2)	p.E1230K(1)|p.E1270K(1)	cervix(2)	breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3685-3702)gfs		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing																																				SO:0001589	frameshift_variant	146206							g.chr16:67688783_67688799delGCCGAAGGCAAGAGGAA	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3685_3701delGCCGAAGGCAAGAGGAA	16.37:g.67688783_67688799delGCCGAAGGCAAGAGGAA	ENSP00000334958:p.Ala1229fs					RLTPR_ENST00000545661.1_Frame_Shift_Del_p.AEGKRK1193fs	p.AEGKRK1229fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	32	4013_4029	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1229					B8X2Z3	Frame_Shift_Del	DEL	ENST00000334583.6	37	c.3685_3701delGCCGAAGGCAAGAGGAA	CCDS45513.1																																																																																				0.571	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		7	48						7	48	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Start_Codon_Ins	INS	-	-	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195				NOVA2_ENST00000599462.1_5'Flank	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2						regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21								neuro-oncological ventral antigen 2																																				SO:0001582	initiator_codon_variant	4858					nucleus	RNA binding	g.chr19:46476609_46476610insG	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.2dupC	19.37:g.46476617_46476617dupG								NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	0	194_195	-		all_neural(266;0.113)|Ovarian(192;0.127)						O43267|Q9UEA1	Translation_Start_Site	INS	ENST00000263257.5	37		CCDS12679.1																																																																																				0.762	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		2	4						2	4	---	---	---	---
