#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
CDK12	51755	broad.mit.edu	37	17	37619371	37619371	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37619371G>A	ENST00000447079.4	+	1	1079		c.e1+1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTCCCCAGGTGAGCTATTT	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.e1+1		cyclin-dependent kinase 12							56.0	54.0	55.0					17																	37619371		2203	4300	6503	SO:0001630	splice_region_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619371G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+1G>A	17.37:g.37619371G>A		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Splice_Site		NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	1079	+								A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37		CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003175	0.74932	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34872897	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.467000	0.90390	2.490000	0.84030	0.655000	0.94253	.		0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	18	43	0	0	0	1	0	18	43				
MAML1	9794	broad.mit.edu	37	5	179193305	179193305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179193305C>T	ENST00000292599.3	+	2	1557	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATGGCAGCAGACGGGGCC	0.612																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1294-1296)Cag>Tag		mastermind-like 1 (Drosophila)							75.0	88.0	84.0					5																	179193305		2203	4300	6503	SO:0001587	stop_gained	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193305C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1294C>T	5.37:g.179193305C>T	ENSP00000292599:p.Gln432*					MAML1_ENST00000503050.1_3'UTR	p.Q432*	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1557	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	432						Nonsense_Mutation	SNP	ENST00000292599.3	37	c.1294C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	38	7.163781	0.98107	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	.	.	.	4.89	4.89	0.63831	.	0.185873	0.38326	N	0.001728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.5829	18.0409	0.89318	0.0:1.0:0.0:0.0	.	.	.	.	X	432;469	.	ENSP00000292599:Q432X	Q	+	1	0	MAML1	179125911	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.229000	0.78088	2.254000	0.74563	0.313000	0.20887	CAG		0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	278	0	0	0	1	0	5	278				
CCDC102A	92922	broad.mit.edu	37	16	57550233	57550233	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:57550233T>C	ENST00000258214.2	-	7	1637	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	464										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCTCCTTCTTGAGCTCCTC	0.667																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1390-1392)aAg>aGg		coiled-coil domain containing 102A							64.0	49.0	54.0					16																	57550233		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550233T>C	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1391A>G	16.37:g.57550233T>C	ENSP00000258214:p.Lys464Arg						p.K464R	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1637	-			464					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1391A>G	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	t	24.9	4.584145	0.86748	.	.	ENSG00000135736	ENST00000258214	T	0.78595	-1.19	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	D	0.85809	0.5783	M	0.70595	2.14	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.86527	0.1819	10	0.54805	T	0.06	-42.1566	12.2228	0.54443	0.0:0.0:0.0:1.0	.	464	Q96A19	C102A_HUMAN	R	464	ENSP00000258214:K464R	ENSP00000258214:K464R	K	-	2	0	CCDC102A	56107734	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	1.677000	0.50941	0.381000	0.24937	AAG		0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		3	25	0	0	0	1	0	3	25				
MMP19	4327	broad.mit.edu	37	12	56232402	56232402	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:56232402C>T	ENST00000322569.4	-	6	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T|MMP19_ENST00000547487.1_5'Flank|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	295					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|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(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AGCATCATGGCATCCAGTTCA	0.607																																						ENST00000322569.4																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(883-885)Gcc>Acc		matrix metallopeptidase 19							106.0	88.0	94.0					12																	56232402		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56232402C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.883G>A	12.37:g.56232402C>T	ENSP00000313437:p.Ala295Thr					MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T	p.A295T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN			6	974	-			295			Hemopexin-like 1.		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.883G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125196	0.77436	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.57595	2.04;2.04;0.39	5.71	5.71	0.89125	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	L	0.59436	1.845	0.80722	D	1	D;P	0.89917	1.0;0.929	D;P	0.83275	0.996;0.614	T	0.62310	-0.6881	10	0.25106	T	0.35	.	17.3591	0.87345	0.0:1.0:0.0:0.0	.	213;295	B4E030;Q99542	.;MMP19_HUMAN	T	295;272;213	ENSP00000313437:A295T;ENSP00000446979:A272T;ENSP00000386625:A213T	ENSP00000313437:A295T	A	-	1	0	MMP19	54518669	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.421000	0.73353	2.699000	0.92147	0.514000	0.50259	GCC		0.607	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		40	36	0	0	0	1	0	40	36				
ASPH	444	broad.mit.edu	37	8	62489335	62489335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:62489335G>A	ENST00000379454.4	-	16	1332	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ASPH_ENST00000541428.1_Missense_Mutation_p.A353V	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	382					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATACCTGCGCCTTCCCATA	0.378																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1057-1059)gCg>gTg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						171.0	153.0	159.0					8																	62489335		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62489335G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1145C>T	8.37:g.62489335G>A	ENSP00000368767:p.Ala382Val					ASPH_ENST00000379454.4_Missense_Mutation_p.A382V	p.A353V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			16	1218	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	382					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1058C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827730	0.50845	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;D	0.83506	0.5;0.5;-1.73	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.93341	0.6710	10	0.87932	D	0	-22.4162	18.1068	0.89523	0.0:0.0:1.0:0.0	.	353;363;382	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	V	363;353;382;135	ENSP00000437864:A353V;ENSP00000368767:A382V;ENSP00000429718:A135V	ENSP00000368767:A382V	A	-	2	0	ASPH	62651889	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.703000	0.74633	2.437000	0.82529	0.561000	0.74099	GCG		0.378	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		37	62	0	0	0	1	0	37	62				
SLC36A3	285641	broad.mit.edu	37	5	150667007	150667007	+	Missense_Mutation	SNP	C	C	T	rs142449284	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:150667007C>T	ENST00000335230.3	-	6	919	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	170						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGGTCACGTGGGCTTTT	0.468																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(508-510)Gtg>Atg		solute carrier family 36, member 3		C	MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	112.0	105.0	107.0		631,508	-5.6	0.0	5	dbSNP_134	107	0,8600		0,0,4300	yes	missense,missense	SLC36A3	NM_001145017.1,NM_181774.3	21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	211/512,170/471	150667007	2,13004	2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150667007C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.508G>A	5.37:g.150667007C>T	ENSP00000334750:p.Val170Met					SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	p.V170M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	919	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	170					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.508G>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933301	0.34096	4.54E-4	0.0	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02236	4.38;4.38	4.56	-5.55	0.02536	.	1.037600	0.07580	N	0.920115	T	0.01421	0.0046	N	0.20685	0.6	0.09310	N	1	B;B;B	0.21905	0.034;0.008;0.062	B;B;B	0.20184	0.027;0.028;0.024	T	0.47459	-0.9116	10	0.33141	T	0.24	.	3.7569	0.08589	0.1005:0.3604:0.0947:0.4444	.	211;170;155	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	M	170;211	ENSP00000334750:V170M;ENSP00000366942:V211M	ENSP00000334750:V170M	V	-	1	0	SLC36A3	150647200	0.001000	0.12720	0.014000	0.15608	0.921000	0.55340	-0.077000	0.11394	-1.241000	0.02526	0.655000	0.94253	GTG		0.468	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		5	45	0	0	0	1	0	5	45				
F13B	2165	broad.mit.edu	37	1	197032024	197032024	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:197032024A>G	ENST00000367412.1	-	2	271	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	76	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTGTTGTACACGTGGTTT	0.378																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(226-228)tgT>tgC		coagulation factor XIII, B polypeptide							172.0	182.0	178.0					1																	197032024		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197032024A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.228T>C	1.37:g.197032024A>G							p.C76C	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			2	271	-			76			Sushi 1.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.228T>C	CCDS1388.1																																																																																				0.378	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		27	136	0	0	0	1	0	27	136				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	44	1	0	0.150653	1	0.15276	4	44				
TRBV5-7	28608	broad.mit.edu	37	7	142111685	142111685	+	RNA	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:142111685G>A	ENST00000390378.1	-	0	50									T cell receptor beta variable 5-7 (non-functional)																		CGTCCACTGGGCCTGTGGGAA	0.552																																						ENST00000390378.1																			0																				116.0	111.0	113.0					7																	142111685		1968	4164	6132			0							g.chr7:142111685G>A	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111685G>A														0	50	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.552	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		7	302	0	0	0	1	0	7	302				
USH1G	124590	broad.mit.edu	37	17	72915939	72915939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:72915939C>T	ENST00000319642.1	-	2	1174	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATCCTCGCGGCCCAGTCC	0.677																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(991-993)cGc>cAc		Usher syndrome 1G (autosomal recessive)							48.0	59.0	55.0					17																	72915939		2203	4298	6501	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915939C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.992G>A	17.37:g.72915939C>T	ENSP00000320076:p.Arg331His						p.R331H	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1174	-	all_lung(278;0.172)|Lung NSC(278;0.207)		331					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.992G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090636	0.36855	.	.	ENSG00000182040	ENST00000319642	T	0.71222	-0.55	4.34	2.02	0.26589	.	0.680143	0.14137	N	0.338996	T	0.50171	0.1600	L	0.29908	0.895	0.09310	N	1	P	0.46706	0.883	B	0.32805	0.153	T	0.38045	-0.9679	10	0.52906	T	0.07	-12.7178	7.9146	0.29810	0.0:0.6913:0.0:0.3087	.	331	Q495M9	USH1G_HUMAN	H	331	ENSP00000320076:R331H	ENSP00000320076:R331H	R	-	2	0	USH1G	70427534	0.048000	0.20356	0.975000	0.42487	0.920000	0.55202	0.441000	0.21611	0.314000	0.23086	0.555000	0.69702	CGC		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		6	339	0	0	0	1	0	6	339				
LCE1A	353131	broad.mit.edu	37	1	152800112	152800112	+	Missense_Mutation	SNP	G	G	T	rs571386054	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:152800112G>T	ENST00000335123.2	+	1	164	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	55	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGCTCCAGCTCTGGGGGC	0.667																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(163-165)aGc>aTc		late cornified envelope 1A							35.0	41.0	39.0					1																	152800112		2203	4300	6503	SO:0001583	missense	353131				keratinization			g.chr1:152800112G>T		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.164G>T	1.37:g.152800112G>T	ENSP00000334869:p.Ser55Ile						p.S55I	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	164	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		55			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.164G>T	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269362	0.23221	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.05025	3.51;3.51	3.37	3.37	0.38596	.	.	.	.	.	T	0.11707	0.0285	M	0.66506	2.035	0.24227	N	0.995416	D	0.69078	0.997	D	0.78314	0.991	T	0.03268	-1.1054	9	0.87932	D	0	.	10.4138	0.44309	0.0:0.0:1.0:0.0	.	55	Q5T7P2	LCE1A_HUMAN	I	55	ENSP00000357755:S55I;ENSP00000334869:S55I	ENSP00000334869:S55I	S	+	2	0	LCE1A	151066736	0.636000	0.27207	1.000000	0.80357	0.846000	0.48090	1.903000	0.39858	1.857000	0.53885	0.563000	0.77884	AGC		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		12	80	1	0	1.15088e-07	1	1.35673e-07	12	80				
TGFB2	7042	broad.mit.edu	37	1	218520075	218520075	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:218520075T>C	ENST00000366930.4	+	1	499	c.32T>C	c.(31-33)aTc>aCc	p.I11T	TGFB2_ENST00000366929.4_Missense_Mutation_p.I11T|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	11					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTTCTGATCCTGCATCTG	0.443																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(31-33)aTc>aCc		transforming growth factor, beta 2							71.0	72.0	72.0					1																	218520075		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520075T>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.32T>C	1.37:g.218520075T>C	ENSP00000355897:p.Ile11Thr					TGFB2_ENST00000366930.4_Missense_Mutation_p.I11T	p.I11T	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	499	+			11					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.32T>C	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727133	0.30593	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74209	-0.77;-0.82	5.8	2.22	0.28083	.	0.686270	0.15546	N	0.256662	T	0.40015	0.1100	N	0.00707	-1.245	0.19945	N	0.999946	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.12837	0.001;0.002;0.008	T	0.37150	-0.9718	10	0.42905	T	0.14	.	6.3527	0.21385	0.0:0.5623:0.0:0.4377	.	11;11;12	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	T	11	ENSP00000355897:I11T;ENSP00000355896:I11T	ENSP00000355896:I11T	I	+	2	0	TGFB2	216586698	0.536000	0.26378	0.494000	0.27515	0.988000	0.76386	1.560000	0.36331	0.475000	0.27415	0.482000	0.46254	ATC		0.443	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		9	93	0	0	0	1	0	9	93				
FAM83C	128876	broad.mit.edu	37	20	33875239	33875239	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33875239C>T	ENST00000374408.3	-	4	1439	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										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)			GGGCCGGGAGCGAGGAAGCAG	0.647																																						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.(1342-1344)cGc>cAc		family with sequence similarity 83, member C							38.0	34.0	36.0					20																	33875239		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875239C>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.1343G>A	20.37:g.33875239C>T	ENSP00000363529:p.Arg448His						p.R448H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1439	-			448					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1343G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179452	0.21787	.	.	ENSG00000125998	ENST00000374408	T	0.06768	3.26	4.8	0.385	0.16249	.	0.888176	0.09695	N	0.767816	T	0.07863	0.0197	L	0.48877	1.53	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36648	-0.9739	10	0.54805	T	0.06	-17.195	4.6221	0.12460	0.0:0.5523:0.1569:0.2907	.	448	Q9BQN1	FA83C_HUMAN	H	448	ENSP00000363529:R448H	ENSP00000363529:R448H	R	-	2	0	FAM83C	33338653	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	-0.348000	0.07740	-0.078000	0.12730	0.555000	0.69702	CGC		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			14	44	0	0	0	1	0	14	44				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077613	32077613	+	RNA	SNP	G	G	A	rs571275471	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:32077613G>A	ENST00000354689.6	+	0	228				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ACAACGCCAAGAACTCACTGT	0.507																																						ENST00000354689.6																			0																																																			0							g.chr16:32077613G>A	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077613G>A						RP11-1166P10.6_ENST00000566806.1_RNA								0	228	+									RNA	SNP	ENST00000354689.6	37																																																																																						0.507	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			70	898	0	0	0	1	0	70	898				
CHST11	50515	broad.mit.edu	37	12	105150791	105150791	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:105150791G>A	ENST00000303694.5	+	3	708	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	90					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(268-270)cGa>cAa		carbohydrate (chondroitin 4) sulfotransferase 11							49.0	39.0	43.0					12																	105150791		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150791G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.269G>A	12.37:g.105150791G>A	ENSP00000305725:p.Arg90Gln					CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	p.R90Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	708	+			90					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.269G>A	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575780	0.45902	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.67865	-0.29;-0.28;-0.02	5.51	5.51	0.81932	.	0.059676	0.64402	D	0.000002	T	0.56470	0.1987	L	0.53249	1.67	0.80722	D	1	P;P	0.46621	0.881;0.88	B;B	0.30029	0.11;0.076	T	0.59423	-0.7457	10	0.15499	T	0.54	-21.1515	19.4315	0.94772	0.0:0.0:1.0:0.0	.	85;90	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Q	85;90;50	ENSP00000450004:R85Q;ENSP00000305725:R90Q;ENSP00000449095:R50Q	ENSP00000305725:R90Q	R	+	2	0	CHST11	103674921	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	6.506000	0.73712	2.600000	0.87896	0.655000	0.94253	CGA		0.582	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		3	22	0	0	0	1	0	3	22				
SEC16B	89866	broad.mit.edu	37	1	177909845	177909845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:177909845G>A	ENST00000308284.6	-	17	2116	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	676					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGTTTCTCTGCTAGCTGTGC	0.517																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2026-2028)gCa>gTa		SEC16 homolog B (S. cerevisiae)							41.0	45.0	43.0					1																	177909845		2015	4178	6193	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909845G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2027C>T	1.37:g.177909845G>A	ENSP00000308339:p.Ala676Val					RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.A676V	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			17	2116	-			676					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2027C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623333	0.46840	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.17854	2.25	5.64	5.64	0.86602	.	0.180091	0.39083	N	0.001475	T	0.36880	0.0983	M	0.64080	1.96	0.50813	D	0.999895	P;D;D;D	0.58970	0.877;0.984;0.967;0.984	P;P;P;P	0.62014	0.781;0.867;0.897;0.867	T	0.02307	-1.1179	10	0.54805	T	0.06	-10.1195	15.1982	0.73112	0.0:0.0:1.0:0.0	.	231;677;676;373	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	V	676;360;391	ENSP00000308339:A676V	ENSP00000239472:A391V	A	-	2	0	AL359075.1	176176468	0.997000	0.39634	0.417000	0.26559	0.265000	0.26407	5.081000	0.64444	2.652000	0.90054	0.655000	0.94253	GCA		0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		6	27	0	0	0	1	0	6	27				
CCDC102B	79839	broad.mit.edu	37	18	66678240	66678240	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:66678240A>G	ENST00000360242.5	+	7	1450	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCAGAACTGACTCATGCAAA	0.343																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1333-1335)Act>Gct		coiled-coil domain containing 102B							102.0	96.0	98.0					18																	66678240		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678240A>G	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1333A>G	18.37:g.66678240A>G	ENSP00000353377:p.Thr445Ala					CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A	p.T445A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			7	1450	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	445					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1333A>G	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	8.269	0.812959	0.16537	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.10192	2.9;2.9	5.41	4.25	0.50352	.	0.743446	0.12090	N	0.500504	T	0.05410	0.0143	N	0.04787	-0.16	0.80722	D	1	B	0.27351	0.176	B	0.26094	0.066	T	0.40961	-0.9535	10	0.21540	T	0.41	-1.5958	8.0836	0.30758	0.9078:0.0:0.0922:0.0	.	445	Q68D86	C102B_HUMAN	A	445	ENSP00000316237:T445A;ENSP00000353377:T445A	ENSP00000316237:T445A	T	+	1	0	CCDC102B	64829220	0.988000	0.35896	0.027000	0.17364	0.598000	0.36846	2.568000	0.45965	0.894000	0.36317	0.533000	0.62120	ACT		0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	42	0	0	0	1	0	9	42				
CCBL1	883	broad.mit.edu	37	9	131600404	131600404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:131600404C>A	ENST00000302586.3	-	5	526	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000436267.2_Nonsense_Mutation_p.E216*|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	122					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AAAAAGGGTTCGATGATGATG	0.532																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(646-648)Gaa>Taa		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						158.0	166.0	164.0					9																	131600404		2202	4296	6498	SO:0001587	stop_gained	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600404C>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.364G>T	9.37:g.131600404C>A	ENSP00000302227:p.Glu122*					CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Nonsense_Mutation_p.E122*	p.E216*			Q16773	KAT1_HUMAN			7	795	-			122					Q5T275|Q8N191	Nonsense_Mutation	SNP	ENST00000302586.3	37	c.646G>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710630	0.96821	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0474	17.1509	0.86778	0.0:1.0:0.0:0.0	.	.	.	.	X	122;72;216;122;122	.	ENSP00000302227:E122X	E	-	1	0	CCBL1	130640225	1.000000	0.71417	0.863000	0.33907	0.957000	0.61999	5.117000	0.64667	2.378000	0.81104	0.650000	0.86243	GAA		0.532	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			17	303	1	0	2.23348e-06	1	2.53012e-06	17	303				
P4HA1	5033	broad.mit.edu	37	10	74804782	74804782	+	Missense_Mutation	SNP	T	T	C	rs201139791		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:74804782T>C	ENST00000307116.2	-	9	1221	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	P4HA1_ENST00000412021.2_Missense_Mutation_p.I369V|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000440381.1_Intron			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTGTTATTGGGTTTGAA	0.388																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1105-1107)Ata>Gta		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	T	,VAL/ILE,VAL/ILE,	3,3717		0,3,1857	138.0	134.0	135.0		,1105,1105,	3.5	1.0	10		135	0,8214		0,0,4107	yes	intron,missense,missense,intron	P4HA1	NM_000917.3,NM_001017962.2,NM_001142595.1,NM_001142596.1	,29,29,	0,3,5964	CC,CT,TT		0.0,0.0806,0.0251	,,,	,369/535,369/535,	74804782	3,11931	1860	4107	5967	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74804782T>C		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1105A>G	10.37:g.74804782T>C	ENSP00000307318:p.Ile369Val					P4HA1_ENST00000307116.2_Missense_Mutation_p.I369V|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000263556.3_Intron	p.I369V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			10	1438	-	Prostate(51;0.0198)		369					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1105A>G		.	.	.	.	.	.	.	.	.	.	T	9.902	1.207067	0.22205	8.06E-4	0.0	ENSG00000122884	ENST00000307116;ENST00000412021;ENST00000394890	T;T;T	0.41065	1.01;1.01;1.01	5.86	3.55	0.40652	Prolyl 4-hydroxylase, alpha subunit (1);	.	.	.	.	T	0.22360	0.0539	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03829	-1.1000	9	0.24483	T	0.36	.	9.6864	0.40100	0.0:0.142:0.0:0.858	.	369	P13674	P4HA1_HUMAN	V	369	ENSP00000307318:I369V;ENSP00000411688:I369V;ENSP00000378353:I369V	ENSP00000307318:I369V	I	-	1	0	P4HA1	74474788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.701000	0.54793	0.490000	0.27771	0.533000	0.62120	ATA		0.388	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		9	53	0	0	0	1	0	9	53				
VPS18	57617	broad.mit.edu	37	15	41192240	41192240	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:41192240C>T	ENST00000220509.5	+	4	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	408					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1222-1224)ttC>ttT		vacuolar protein sorting 18 homolog (S. cerevisiae)							77.0	80.0	79.0					15																	41192240		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192240C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1224C>T	15.37:g.41192240C>T						VPS18_ENST00000558474.1_Intron	p.F408F	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1563	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	408					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.1224C>T	CCDS10069.1																																																																																				0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			7	106	0	0	0	1	0	7	106				
SYNJ1	8867	broad.mit.edu	37	21	34038327	34038327	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34038327C>A	ENST00000322229.7	-	16	2070	c.2071G>T	c.(2071-2073)Gct>Tct	p.A691S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S|SYNJ1_ENST00000382499.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S			O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCCCTGCAGCAAAGTGGCTA	0.428																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2188-2190)Gct>Tct		synaptojanin 1							79.0	64.0	69.0					21																	34038327		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34038327C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2071G>T	21.37:g.34038327C>A	ENSP00000322234:p.Ala691Ser					SYNJ1_ENST00000322229.7_Missense_Mutation_p.A691S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S	p.A730S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			17	2187	-			691			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2188G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011851	0.93346	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	6.04	5.14	0.70334	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.202033	0.51477	D	0.000091	D	0.88559	0.6469	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.991;1.0;0.994;0.997	D	0.89692	0.3898	10	0.72032	D	0.01	.	17.2729	0.87107	0.0:0.8745:0.1255:0.0	.	686;730;691;691;691	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	S	686;691;730;730;691;686	ENSP00000371931:A686S;ENSP00000349903:A691S;ENSP00000371939:A730S;ENSP00000409667:A730S;ENSP00000322234:A691S;ENSP00000413649:A686S	ENSP00000322234:A691S	A	-	1	0	SYNJ1	32960198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.026000	0.70873	1.527000	0.49086	0.561000	0.74099	GCT		0.428	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	36	1	0	3.59834e-05	1	4.01353e-05	6	36				
DNAH3	55567	broad.mit.edu	37	16	20975100	20975100	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:20975100T>C	ENST00000261383.3	-	53	10105	c.10106A>G	c.(10105-10107)gAc>gGc	p.D3369G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3369					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTAGCTTGTCCTTCTCAAA	0.488																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10105-10107)gAc>gGc		dynein, axonemal, heavy chain 3							129.0	101.0	111.0					16																	20975100		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975100T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10106A>G	16.37:g.20975100T>C	ENSP00000261383:p.Asp3369Gly					DNAH3_ENST00000415178.1_3'UTR	p.D3369G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10105	-			3369					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10106A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975206	0.74360	.	.	ENSG00000158486	ENST00000261383	T	0.66280	-0.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.92255	0.5812	10	0.59425	D	0.04	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	3369	Q8TD57	DYH3_HUMAN	G	3369	ENSP00000261383:D3369G	ENSP00000261383:D3369G	D	-	2	0	DNAH3	20882601	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	2.207000	0.71202	0.460000	0.39030	GAC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	121	0	0	0	1	0	5	121				
DCAF13	25879	broad.mit.edu	37	8	104442877	104442877	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:104442877T>C	ENST00000297579.5	+	6	1395	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	221					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GACAGGAATATAGTACTGTAC	0.368																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1117-1119)aTa>aCa		DDB1 and CUL4 associated factor 13							253.0	244.0	247.0					8																	104442877		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104442877T>C	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1118T>C	8.37:g.104442877T>C	ENSP00000297579:p.Ile373Thr					DCAF13_ENST00000521999.1_3'UTR	p.I373T	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			6	1395	+			221					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1118T>C	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225545	0.79576	.	.	ENSG00000164934	ENST00000297579	T	0.01902	4.57	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044545	0.85682	D	0.000000	T	0.15955	0.0384	M	0.92367	3.3	0.80722	D	1	D	0.58620	0.983	P	0.61328	0.887	T	0.01692	-1.1294	10	0.72032	D	0.01	-25.3862	15.1592	0.72767	0.0:0.0:0.0:1.0	.	221	Q9NV06	DCA13_HUMAN	T	373	ENSP00000297579:I373T	ENSP00000297579:I373T	I	+	2	0	DCAF13	104512053	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.499000	0.81566	1.996000	0.58369	0.455000	0.32223	ATA		0.368	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		66	113	0	0	0	1	0	66	113				
ZBTB22	9278	broad.mit.edu	37	6	33283001	33283001	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:33283001G>A	ENST00000431845.2	-	2	1844	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTGCCGGCGCTCACAGTGT	0.672																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1693-1695)Cgc>Tgc		zinc finger and BTB domain containing 22							35.0	37.0	36.0					6																	33283001		2200	4299	6499	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283001G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1693C>T	6.37:g.33283001G>A	ENSP00000407545:p.Arg565Cys					ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1844	-			565					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1693C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479166	0.63849	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.09163	3.01;3.01	4.15	2.12	0.27331	.	0.000000	0.29916	N	0.010868	T	0.09379	0.0231	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.08554	-1.0716	10	0.87932	D	0	.	9.2385	0.37481	0.0:0.0:0.4783:0.5217	.	565	O15209	ZBT22_HUMAN	C	565	ENSP00000404403:R565C;ENSP00000407545:R565C	ENSP00000404403:R565C	R	-	1	0	ZBTB22	33390979	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.839000	0.48207	1.045000	0.40225	0.542000	0.68232	CGC		0.672	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	63	0	0	0	1	0	8	63				
PXYLP1	92370	broad.mit.edu	37	3	141011306	141011306	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:141011306C>T	ENST00000286353.4	+	6	839	c.702C>T	c.(700-702)caC>caT	p.H234H	ACPL2_ENST00000393007.1_Silent_p.H218H|ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000508812.1_Silent_p.H225H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000504264.1_Silent_p.H217H	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		234						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATTTCAGGCACCAGCCAAGTG	0.488																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(673-675)caC>caT		acid phosphatase-like 2							55.0	58.0	57.0					3																	141011306		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:141011306C>T																												ENST00000286353.4:c.702C>T	3.37:g.141011306C>T						ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000504264.1_Silent_p.H217H|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000286353.4_Silent_p.H234H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.H218H	p.H225H			Q8TE99	ACPL2_HUMAN			5	2582	+			234					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.675C>T	CCDS3116.1																																																																																				0.488	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			5	60	0	0	0	1	0	5	60				
SYVN1	84447	broad.mit.edu	37	11	64897328	64897328	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:64897328G>C	ENST00000377190.3	-	14	1562	c.1468C>G	c.(1468-1470)Cga>Gga	p.R490G	SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.R489G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	490					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGAGCTCGTAGCTCCTCT	0.662																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1465-1467)Cga>Gga		synovial apoptosis inhibitor 1, synoviolin							34.0	39.0	37.0					11																	64897328		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64897328G>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1468C>G	11.37:g.64897328G>C	ENSP00000366395:p.Arg490Gly					SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G|SYVN1_ENST00000377190.3_Missense_Mutation_p.R490G	p.R489G			Q86TM6	SYVN1_HUMAN			14	1657	-			490					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1465C>G	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251973	0.39797	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.13657	2.57;2.63;2.78;2.63	4.61	4.61	0.57282	.	0.126331	0.49916	D	0.000129	T	0.17023	0.0409	M	0.72894	2.215	0.58432	D	0.999997	B;P;P	0.39424	0.447;0.673;0.543	B;B;B	0.37943	0.177;0.261;0.134	T	0.01245	-1.1407	10	0.52906	T	0.07	-6.2591	10.0769	0.42366	0.0:0.0:0.7997:0.2003	.	438;489;490	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	G	490;489;490;438;489	ENSP00000366395:R490G;ENSP00000294256:R489G;ENSP00000302035:R438G;ENSP00000436984:R489G	ENSP00000294256:R489G	R	-	1	2	SYVN1	64653904	0.981000	0.34729	0.996000	0.52242	0.956000	0.61745	4.118000	0.57884	2.405000	0.81733	0.561000	0.74099	CGA		0.662	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		16	37	0	0	0	1	0	16	37				
NPPA	4878	broad.mit.edu	37	1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:11907408C>T	ENST00000376480.3	-	2	310	c.212G>A	c.(211-213)gGg>gAg	p.G71E	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	71					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(211-213)gGg>gAg		natriuretic peptide A							39.0	45.0	43.0					1																	11907408		2202	4300	6502	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907408C>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.212G>A	1.37:g.11907408C>T	ENSP00000365663:p.Gly71Glu					NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000446542.1_RNA	p.G71E	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	310	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	71					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.212G>A	CCDS139.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049572	0.19827	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.43294	0.95	5.84	2.92	0.33932	.	0.344763	0.32218	N	0.006419	T	0.41903	0.1179	M	0.79805	2.47	0.09310	N	0.999997	P	0.46395	0.877	B	0.40636	0.335	T	0.44251	-0.9340	10	0.66056	D	0.02	-13.0578	6.2266	0.20711	0.0:0.6827:0.152:0.1653	.	71	P01160	ANF_HUMAN	E	71;21	ENSP00000365663:G71E	ENSP00000365659:G21E	G	-	2	0	NPPA	11829995	0.029000	0.19370	0.017000	0.16124	0.146000	0.21551	0.222000	0.17699	0.364000	0.24374	0.561000	0.74099	GGG		0.602	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		7	75	0	0	0	1	0	7	75				
PRAMEF1	65121	broad.mit.edu	37	1	12855601	12855601	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12855601C>A	ENST00000332296.7	+	4	984	c.881C>A	c.(880-882)cCc>cAc	p.P294H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	294					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(880-882)cCc>cAc		PRAME family member 1							41.0	45.0	44.0					1																	12855601		2164	4237	6401	SO:0001583	missense	65121							g.chr1:12855601C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.881C>A	1.37:g.12855601C>A	ENSP00000332134:p.Pro294His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	p.P294H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	984	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	294					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.881C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.140	1.013509	0.19277	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.00922	5.54;5.54	1.56	0.632	0.17705	.	0.065895	0.64402	D	0.000011	T	0.04137	0.0115	M	0.88310	2.945	0.09310	N	1	D	0.64830	0.994	D	0.65684	0.937	T	0.20240	-1.0281	10	0.66056	D	0.02	.	4.1172	0.10088	0.0:0.7761:0.0:0.2239	.	294	O95521	PRAM1_HUMAN	H	294;49	ENSP00000332134:P294H;ENSP00000383616:P49H	ENSP00000332134:P294H	P	+	2	0	PRAMEF1	12778188	0.002000	0.14202	0.050000	0.19076	0.002000	0.02628	0.906000	0.28517	0.228000	0.21019	-0.974000	0.02594	CCC		0.463	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		11	138	1	0	3.07112e-06	1	3.45203e-06	11	138				
OR10Z1	128368	broad.mit.edu	37	1	158576638	158576638	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:158576638A>G	ENST00000361284.1	+	1	410	c.410A>G	c.(409-411)aAt>aGt	p.N137S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCACATGAATCCTACCCTC	0.512																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(409-411)aAt>aGt		olfactory receptor, family 10, subfamily Z, member 1							94.0	94.0	94.0					1																	158576638		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576638A>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.410A>G	1.37:g.158576638A>G	ENSP00000354707:p.Asn137Ser						p.N137S	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	410	+	all_hematologic(112;0.0378)		137					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.410A>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.805942	0.02819	.	.	ENSG00000198967	ENST00000361284	T	0.34667	1.35	5.3	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.896444	0.09352	N	0.813964	T	0.02380	0.0073	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.02654	T	1	.	3.7544	0.08579	0.5179:0.0:0.3237:0.1584	.	137	Q8NGY1	O10Z1_HUMAN	S	137	ENSP00000354707:N137S	ENSP00000354707:N137S	N	+	2	0	OR10Z1	156843262	0.000000	0.05858	0.043000	0.18650	0.803000	0.45373	-0.848000	0.04326	0.046000	0.15833	0.533000	0.62120	AAT		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		29	64	0	0	0	1	0	29	64				
KIF26B	55083	broad.mit.edu	37	1	245852063	245852063	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:245852063C>A	ENST00000407071.2	+	12	6218	c.5778C>A	c.(5776-5778)ggC>ggA	p.G1926G	KIF26B_ENST00000366518.4_Silent_p.G1545G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1926					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCGTGGGCGGCAGGTGCC	0.716																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4633-4635)ggC>ggA		kinesin family member 26B							10.0	13.0	12.0					1																	245852063		1979	4056	6035	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245852063C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5778C>A	1.37:g.245852063C>A						KIF26B_ENST00000407071.2_Silent_p.G1926G	p.G1545G			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4739	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1926					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.4635C>A	CCDS44342.1																																																																																				0.716	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		10	21	1	0	0.0581538	1	0.060664	10	21				
HOXB8	3218	broad.mit.edu	37	17	46692051	46692051	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:46692051C>T	ENST00000239144.4	-	1	250	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	6					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						AGTGAGTTGACGAAATAAGAG	0.592																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(16-18)Gtc>Atc		homeobox B8							8.0	8.0	8.0					17																	46692051		2122	4152	6274	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46692051C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.16G>A	17.37:g.46692051C>T	ENSP00000239144:p.Val6Ile					HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.1_Intron	p.V6I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	250	-			6					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.16G>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	c	18.28	3.589549	0.66105	.	.	ENSG00000120068	ENST00000239144	T	0.30714	1.52	3.35	3.35	0.38373	.	0.000000	0.51477	U	0.000098	T	0.55289	0.1911	M	0.86420	2.815	0.51482	D	0.999929	D	0.54772	0.968	P	0.59221	0.854	T	0.65857	-0.6066	10	0.54805	T	0.06	.	14.664	0.68893	0.0:1.0:0.0:0.0	.	6	P17481	HXB8_HUMAN	I	6	ENSP00000239144:V6I	ENSP00000239144:V6I	V	-	1	0	HOXB8	44047050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.634000	0.67833	1.434000	0.47414	0.290000	0.19541	GTC		0.592	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			6	22	0	0	0	1	0	6	22				
AQP6	363	broad.mit.edu	37	12	50369276	50369276	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:50369276C>G	ENST00000315520.5	+	4	1008	c.671C>G	c.(670-672)gCc>gGc	p.A224G	AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	224					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGATGGGAGCCCTCCTGGCC	0.637																																						ENST00000315520.5																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(670-672)gCc>gGc		aquaporin 6, kidney specific							100.0	111.0	107.0					12																	50369276		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50369276C>G	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.671C>G	12.37:g.50369276C>G	ENSP00000320247:p.Ala224Gly					AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	p.A224G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			4	1008	+			224						Missense_Mutation	SNP	ENST00000315520.5	37	c.671C>G	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	8.988	0.976982	0.18812	.	.	ENSG00000086159	ENST00000551733;ENST00000315520	D;D	0.89123	-2.47;-2.47	4.38	4.38	0.52667	Aquaporin-like (2);	0.121781	0.32970	N	0.005422	D	0.87892	0.6292	N	0.17379	0.485	0.44221	D	0.997051	D	0.71674	0.998	D	0.76071	0.987	D	0.83710	0.0187	10	0.12766	T	0.61	0.0164	14.3365	0.66595	0.0:1.0:0.0:0.0	.	224	Q13520	AQP6_HUMAN	G	50;224	ENSP00000449830:A50G;ENSP00000320247:A224G	ENSP00000320247:A224G	A	+	2	0	AQP6	48655543	0.693000	0.27728	0.862000	0.33874	0.835000	0.47333	0.990000	0.29642	2.434000	0.82447	0.650000	0.86243	GCC		0.637	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		7	216	0	0	0	1	0	7	216				
CBLN2	147381	broad.mit.edu	37	18	70209171	70209171	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:70209171G>A	ENST00000269503.4	-	3	998	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CBLN2_ENST00000585159.1_Silent_p.D75D|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGACGGCGCCGTCCGCCGACG	0.706																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(223-225)gaC>gaT		cerebellin 2 precursor							29.0	27.0	27.0					18																	70209171		2200	4299	6499	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209171G>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.225C>T	18.37:g.70209171G>A						CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.D75D|CBLN2_ENST00000584764.1_Intron	p.D75D	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			3	998	-		Esophageal squamous(42;0.131)	75					Q53Z56	Silent	SNP	ENST00000269503.4	37	c.225C>T	CCDS11999.1																																																																																				0.706	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		14	13	0	0	0	1	0	14	13				
KLKB1	3818	broad.mit.edu	37	4	187157946	187157946	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:187157946G>T	ENST00000264690.6	+	5	527	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	114	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGCCATCGAGACATTTATAA	0.373																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(340-342)Gac>Tac		kallikrein B, plasma (Fletcher factor) 1							131.0	130.0	130.0					4																	187157946		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187157946G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.340G>T	4.37:g.187157946G>T	ENSP00000264690:p.Asp114Tyr					KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	5	527	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	114			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.340G>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.252320|2.252320	0.39797|0.39797	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.91740|.	-2.52;-2.52;-2.52;-2.9;-2.52|.	4.91|4.91	1.07|1.07	0.20283|0.20283	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.959198|.	0.08697|.	N|.	0.907057|.	T|T	0.56140|0.56140	0.1965|0.1965	M|M	0.80847|0.80847	2.515|2.515	0.09310|0.09310	N|N	1|1	D;D|.	0.59767|.	0.986;0.979|.	D;P|.	0.69824|.	0.966;0.837|.	T|T	0.49624|0.49624	-0.8920|-0.8920	10|5	0.87932|.	D|.	0|.	.|.	8.1878|8.1878	0.31350|0.31350	0.341:0.0:0.659:0.0|0.341:0.0:0.659:0.0	.|.	76;114|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	Y|D	114;114;76;76;114;76|161	ENSP00000412366:D114Y;ENSP00000264690:D114Y;ENSP00000415563:D76Y;ENSP00000392231:D76Y;ENSP00000424469:D114Y|.	ENSP00000264690:D114Y|.	D|E	+|+	1|3	0|2	KLKB1|KLKB1	187394940|187394940	0.177000|0.177000	0.23109|0.23109	0.001000|0.001000	0.08648|0.08648	0.596000|0.596000	0.36781|0.36781	2.963000|2.963000	0.49184|0.49184	-0.020000|-0.020000	0.14032|0.14032	0.650000|0.650000	0.86243|0.86243	GAC|GAG		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		31	41	1	0	6.04164e-23	1	7.55205e-23	31	41				
TDRKH	11022	broad.mit.edu	37	1	151748667	151748667	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:151748667C>T	ENST00000368822.1	-	8	1755	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000458431.2_Silent_p.R374R|TDRKH_ENST00000368824.3_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368825.3_Silent_p.R329R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	374	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCGAGGACCCGGGCTCGAT	0.507																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1120-1122)cgG>cgA		tudor and KH domain containing							100.0	98.0	98.0					1																	151748667		1906	4137	6043	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151748667C>T	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1122G>A	1.37:g.151748667C>T						TDRKH_ENST00000458431.2_Silent_p.R374R|TDRKH_ENST00000368825.3_Silent_p.R329R|TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368824.3_Silent_p.R374R	p.R374R			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1755	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		374			Tudor.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.1122G>A	CCDS41394.1																																																																																				0.507	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		7	76	0	0	0	1	0	7	76				
BRINP3	339479	broad.mit.edu	37	1	190129985	190129985	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:190129985T>A	ENST00000367462.3	-	7	1228	c.997A>T	c.(997-999)Aat>Tat	p.N333Y	BRINP3_ENST00000534846.1_Missense_Mutation_p.N231Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	333					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGGAAATAATTCATAGGTAGC	0.299																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(997-999)Aat>Tat									88.0	97.0	94.0					1																	190129985		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129985T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.997A>T	1.37:g.190129985T>A	ENSP00000356432:p.Asn333Tyr					FAM5C_ENST00000534846.1_Missense_Mutation_p.N231Y|FAM5C_ENST00000484105.1_5'UTR	p.N333Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1228	-	Prostate(682;0.198)		333					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.997A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533330	0.45073	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18657	2.46;2.2	5.75	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	L	0.50333	1.59	0.48975	D	0.999735	D;B	0.71674	0.998;0.244	D;B	0.73380	0.98;0.069	T	0.03728	-1.1009	10	0.72032	D	0.01	.	7.1498	0.25604	0.0:0.0779:0.1473:0.7749	.	231;333	B7Z260;Q76B58	.;FAM5C_HUMAN	Y	333;231	ENSP00000356432:N333Y;ENSP00000438022:N231Y	ENSP00000356432:N333Y	N	-	1	0	FAM5C	188396608	1.000000	0.71417	0.869000	0.34112	0.995000	0.86356	4.715000	0.61909	0.417000	0.25871	0.467000	0.42956	AAT		0.299	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		17	44	0	0	0	1	0	17	44				
C18orf8	29919	broad.mit.edu	37	18	21110078	21110078	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:21110078C>T	ENST00000269221.3	+	17	1691	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	C18orf8_ENST00000590868.1_Silent_p.L479L|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	527	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACGTCCTCAGCGACTCCA	0.403																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1579-1581)ctC>ctT		chromosome 18 open reading frame 8							229.0	235.0	233.0					18																	21110078		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21110078C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1581C>T	18.37:g.21110078C>T						C18orf8_ENST00000590868.1_Silent_p.L479L|C18orf8_ENST00000591367.1_3'UTR	p.L527L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			17	1691	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		527			Mic1.		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.1581C>T	CCDS32803.1																																																																																				0.403	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		37	242	0	0	0	1	0	37	242				
LY9	4063	broad.mit.edu	37	1	160784292	160784292	+	Silent	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:160784292C>G	ENST00000263285.6	+	4	843	c.813C>G	c.(811-813)ctC>ctG	p.L271L	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Silent_p.L271L|LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Silent_p.L271L			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	271	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGCACTCCCAGCCTGCC	0.547																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(811-813)ctC>ctG		lymphocyte antigen 9							86.0	83.0	84.0					1																	160784292		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784292C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.813C>G	1.37:g.160784292C>G						LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000368040.1_5'UTR	p.L271L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	843	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		271			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.813C>G	CCDS30916.1																																																																																				0.547	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		28	74	0	0	0	1	0	28	74				
XPNPEP3	63929	broad.mit.edu	37	22	41282353	41282353	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:41282353C>T	ENST00000357137.4	+	4	710	c.626C>T	c.(625-627)cCc>cTc	p.P209L	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	209					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGATGAGGCCCTCACATGCA	0.458																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(625-627)cCc>cTc		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							118.0	113.0	115.0					22																	41282353		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282353C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.626C>T	22.37:g.41282353C>T	ENSP00000349658:p.Pro209Leu					XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L	p.P209L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	710	+			209					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.626C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232978	0.58777	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.86	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.79784	0.804;0.993	T	0.77024	-0.2741	10	0.12103	T	0.63	-17.9385	17.1344	0.86735	0.0:0.8736:0.1264:0.0	.	209;209	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	L	209;209;209;186	ENSP00000443682:P209L;ENSP00000397110:P209L;ENSP00000349658:P209L;ENSP00000441942:P186L	ENSP00000349658:P209L	P	+	2	0	XPNPEP3	39612299	1.000000	0.71417	0.888000	0.34837	0.785000	0.44390	5.982000	0.70532	1.475000	0.48197	-0.172000	0.13284	CCC		0.458	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		37	56	0	0	0	1	0	37	56				
KRT23	25984	broad.mit.edu	37	17	39092708	39092708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:39092708G>A	ENST00000209718.3	-	2	572	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCAGCTCCGCGTGGTGAAG	0.687																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(148-150)Cgg>Tgg		keratin 23 (histone deacetylase inducible)							44.0	50.0	48.0					17																	39092708		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092708G>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.148C>T	17.37:g.39092708G>A	ENSP00000209718:p.Arg50Trp					KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	p.R50W	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			2	572	-		Breast(137;0.000301)|Ovarian(249;0.15)	50			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.148C>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086644	0.20390	.	.	ENSG00000108244	ENST00000209718	D	0.83250	-1.7	5.73	4.57	0.56435	.	0.115763	0.39210	N	0.001440	T	0.68044	0.2958	N	0.08118	0	0.21675	N	0.999592	D	0.62365	0.991	B	0.44315	0.446	T	0.63005	-0.6733	10	0.38643	T	0.18	.	11.1175	0.48268	0.0777:0.1318:0.7904:0.0	.	50	Q9C075	K1C23_HUMAN	W	50	ENSP00000209718:R50W	ENSP00000209718:R50W	R	-	1	2	KRT23	36346234	0.981000	0.34729	0.107000	0.21349	0.172000	0.22775	3.131000	0.50515	2.707000	0.92482	0.557000	0.71058	CGG		0.687	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			7	147	0	0	0	1	0	7	147				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	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)		p.S166S(4)		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		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	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.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>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.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	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	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	58	0	0	0	1	0	4	58				
EMX1	2016	broad.mit.edu	37	2	73145426	73145426	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:73145426G>A	ENST00000258106.6	+	1	823	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	116					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						CTCCTTCTTCGGCGCCCAGCA	0.706																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(445-447)Ggc>Agc		empty spiracles homeobox 1							7.0	8.0	8.0					2																	73145426		1813	3970	5783	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145426G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.445G>A	2.37:g.73145426G>A	ENSP00000258106:p.Gly149Ser					EMX1_ENST00000394111.5_Intron	p.G149S	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			1	823	+			116					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.445G>A	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	g	8.408	0.843399	0.16963	.	.	ENSG00000135638	ENST00000258106;ENST00000473732	D;D	0.91631	-2.88;-2.37	3.54	-0.577	0.11727	.	0.075463	0.52532	N	0.000061	T	0.81683	0.4874	N	0.26042	0.785	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.65129	-0.6243	10	0.11794	T	0.64	-7.0403	7.9103	0.29787	0.4013:0.0:0.5987:0.0	.	116	Q04741	EMX1_HUMAN	S	149;27	ENSP00000258106:G149S;ENSP00000446992:G27S	ENSP00000258106:G149S	G	+	1	0	EMX1	72998934	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.959000	0.49153	-0.070000	0.12908	-0.370000	0.07254	GGC		0.706	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			5	41	0	0	0	1	0	5	41				
ALPK2	115701	broad.mit.edu	37	18	56202227	56202227	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:56202227A>T	ENST00000361673.3	-	5	5405	c.5192T>A	c.(5191-5193)aTt>aAt	p.I1731N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1731						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGACAAAATTTTCTTCTT	0.488																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5191-5193)aTt>aAt		alpha-kinase 2							118.0	112.0	114.0					18																	56202227		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202227A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5192T>A	18.37:g.56202227A>T	ENSP00000354991:p.Ile1731Asn						p.I1731N	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	5405	-			1731					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5192T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655828	0.47467	.	.	ENSG00000198796	ENST00000361673	T	0.59772	0.24	5.54	5.54	0.83059	.	0.323041	0.29707	N	0.011417	T	0.71702	0.3371	L	0.57536	1.79	0.37467	D	0.915465	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.982	T	0.77606	-0.2525	10	0.87932	D	0	-12.3107	13.1937	0.59726	1.0:0.0:0.0:0.0	.	1726;1731	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	N	1731	ENSP00000354991:I1731N	ENSP00000354991:I1731N	I	-	2	0	ALPK2	54353207	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	5.288000	0.65651	2.092000	0.63282	0.533000	0.62120	ATT		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		19	108	0	0	0	1	0	19	108				
OR4S1	256148	broad.mit.edu	37	11	48328565	48328565	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:48328565C>A	ENST00000319988.1	+	1	791	c.791C>A	c.(790-792)gCt>gAt	p.A264D		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCACCCTGGCTGCTGACAAA	0.478																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(790-792)gCt>gAt		olfactory receptor, family 4, subfamily S, member 1							214.0	191.0	199.0					11																	48328565		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328565C>A	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.791C>A	11.37:g.48328565C>A	ENSP00000321447:p.Ala264Asp						p.A264D	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	791	+			264					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.791C>A	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983042	0.53827	.	.	ENSG00000176555	ENST00000319988	T	0.00058	8.79	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.01668	-0.77	0.09310	N	1	P	0.41188	0.741	P	0.51297	0.665	T	0.65389	-0.6180	9	0.87932	D	0	.	12.9277	0.58270	0.1635:0.8365:0.0:0.0	.	264	Q8NGB4	OR4S1_HUMAN	D	264	ENSP00000321447:A264D	ENSP00000321447:A264D	A	+	2	0	OR4S1	48285141	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	0.239000	0.18023	1.236000	0.43740	0.655000	0.94253	GCT		0.478	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		6	167	1	0	0.0381472	1	0.0400822	6	167				
NOTCH1	4851	broad.mit.edu	37	9	139391807	139391807	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:139391807C>T	ENST00000277541.6	-	34	6459	c.6384G>A	c.(6382-6384)ccG>ccA	p.P2128P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2128					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCCAGCGGGGCTCCGT	0.706			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6382-6384)ccG>ccA		notch 1							25.0	27.0	26.0					9																	139391807		2103	4208	6311	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391807C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6384G>A	9.37:g.139391807C>T		HNSCC(8;0.001)					p.P2128P	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6459	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2128					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.6384G>A	CCDS43905.1																																																																																				0.706	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	61	0	0	0	1	0	4	61				
VAMP7	6845	broad.mit.edu	37	X	155119202	155119202	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrX:155119202T>C	ENST00000286448.6	+	2	238	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	25	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGGAAACTTCCTGGAGGT	0.453																																						ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(73-75)Ttc>Ctc		vesicle-associated membrane protein 7							278.0	268.0	272.0					X																	155119202		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155119202T>C	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.73T>C	X.37:g.155119202T>C	ENSP00000286448:p.Phe25Leu					VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L|VAMP7_ENST00000479687.1_3'UTR	p.F25L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			2	238	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		25			Longin.		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.73T>C	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995532	0.74703	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.24723	1.97;1.97;1.84	2.83	2.83	0.33086	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	.	.	.	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.983;0.999;0.932	T	0.10451	-1.0629	9	0.62326	D	0.03	.	8.6299	0.33913	0.0:0.0:0.0:1.0	.	25;25;25	P51809-3;P51809-2;P51809	.;.;VAMP7_HUMAN	L	25	ENSP00000286448:F25L;ENSP00000262640:F25L;ENSP00000427822:F25L	ENSP00000262640:F25L	F	+	1	0	VAMP7	154772396	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.865000	0.87049	1.381000	0.46364	0.238000	0.17879	TTC		0.453	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		15	69	0	0	0	1	0	15	69				
RASGEF1C	255426	broad.mit.edu	37	5	179564645	179564645	+	Missense_Mutation	SNP	C	C	T	rs373050178		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179564645C>T	ENST00000393371.2	-	2	541	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	82	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGACCCGGGCCAGGAG	0.637																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(244-246)cGg>cAg		RasGEF domain family, member 1C		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	26.0	26.0	26.0		245	4.2	1.0	5		26	0,8594		0,0,4297	no	missense	RASGEF1C	NM_175062.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	82/467	179564645	1,12995	2201	4297	6498	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564645C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.245G>A	5.37:g.179564645C>T	ENSP00000377037:p.Arg82Gln					RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q	p.R82Q			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	541	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	82			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.245G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851735	0.51270	2.27E-4	0.0	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.47528	0.84;0.84	4.17	4.17	0.49024	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.42245	1.32	0.80722	D	1	P	0.37864	0.61	B	0.32583	0.148	T	0.18745	-1.0327	10	0.13853	T	0.58	.	15.4325	0.75112	0.0:1.0:0.0:0.0	.	82	Q8N431	RGF1C_HUMAN	Q	82	ENSP00000354963:R82Q;ENSP00000377037:R82Q	ENSP00000354963:R82Q	R	-	2	0	RASGEF1C	179497251	0.938000	0.31826	1.000000	0.80357	0.811000	0.45836	2.020000	0.41010	2.059000	0.61396	0.511000	0.50034	CGG		0.637	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		7	48	0	0	0	1	0	7	48				
HIVEP2	3097	broad.mit.edu	37	6	143074327	143074327	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:143074327A>G	ENST00000367604.1	-	9	7897	c.7258T>C	c.(7258-7260)Ttg>Ctg	p.L2420L	HIVEP2_ENST00000012134.2_Silent_p.L2420L|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.L2420L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAAAGTCCAACTGCTTGTCA	0.428																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7258-7260)Ttg>Ctg		human immunodeficiency virus type I enhancer binding protein 2							229.0	226.0	227.0					6																	143074327		2035	4194	6229	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074327A>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7258T>C	6.37:g.143074327A>G						RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Silent_p.L2420L|HIVEP2_ENST00000012134.2_Silent_p.L2420L	p.L2420L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	8000	-			2420					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.7258T>C	CCDS43510.1																																																																																				0.428	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			10	246	0	0	0	1	0	10	246				
CTTNBP2	83992	broad.mit.edu	37	7	117432774	117432774	+	Missense_Mutation	SNP	C	C	T	rs375304355		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:117432774C>T	ENST00000160373.3	-	4	567	c.476G>A	c.(475-477)cGc>cAc	p.R159H	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	159					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCTCAAGGCGGGCAGCCAG	0.507																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(475-477)cGc>cAc		cortactin binding protein 2		C	HIS/ARG	0,4406		0,0,2203	76.0	71.0	73.0		476	4.9	1.0	7		73	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTTNBP2	NM_033427.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	159/1664	117432774	2,13004	2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432774C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.476G>A	7.37:g.117432774C>T	ENSP00000160373:p.Arg159His					CTTNBP2_ENST00000487820.1_5'UTR	p.R159H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	567	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		159					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.476G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267665	0.40095	0.0	2.33E-4	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.47528	0.84;0.84;0.84	5.77	4.88	0.63580	Cortactin-binding protein-2, N-terminal (1);	0.145914	0.64402	N	0.000004	T	0.42359	0.1199	L	0.44542	1.39	0.37333	D	0.910065	B	0.20052	0.041	B	0.20955	0.032	T	0.44802	-0.9304	10	0.49607	T	0.09	0.6124	14.2368	0.65932	0.0:0.9274:0.0:0.0726	.	159	Q8WZ74	CTTB2_HUMAN	H	159;117;117	ENSP00000160373:R159H;ENSP00000396014:R117H;ENSP00000405831:R117H	ENSP00000160373:R159H	R	-	2	0	CTTNBP2	117220010	1.000000	0.71417	0.986000	0.45419	0.922000	0.55478	2.737000	0.47393	1.554000	0.49487	0.650000	0.86243	CGC		0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		8	110	0	0	0	1	0	8	110				
OR52E4	390081	broad.mit.edu	37	11	5906107	5906107	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:5906107G>T	ENST00000316987.2	+	1	607	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCATTAAGATCAACATAA	0.453																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(583-585)aaG>aaT		olfactory receptor, family 52, subfamily E, member 4							237.0	209.0	218.0					11																	5906107		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906107G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.585G>T	11.37:g.5906107G>T	ENSP00000321426:p.Lys195Asn						p.K195N	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	607	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	195					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.585G>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051643	0.19827	.	.	ENSG00000180974	ENST00000316987	T	0.00152	8.66	5.15	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.318671	0.23017	N	0.052899	T	0.00210	0.0006	M	0.70903	2.155	0.09310	N	1	P	0.35050	0.482	P	0.44647	0.456	T	0.26224	-1.0109	10	0.59425	D	0.04	.	4.4969	0.11842	0.3293:0.2926:0.3781:0.0	.	195	Q8NGH9	O52E4_HUMAN	N	195	ENSP00000321426:K195N	ENSP00000321426:K195N	K	+	3	2	OR52E4	5862683	0.000000	0.05858	0.011000	0.14972	0.313000	0.28021	-1.250000	0.02885	0.054000	0.16065	-0.148000	0.13756	AAG		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		13	161	1	0	2.27111e-07	1	2.65573e-07	13	161				
IL27RA	9466	broad.mit.edu	37	19	14150414	14150414	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:14150414G>C	ENST00000263379.2	+	3	438	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	105					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAACTCCTTGTCTGGGGCAC	0.607																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(313-315)Gtc>Ctc		interleukin 27 receptor, alpha							70.0	64.0	66.0					19																	14150414		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150414G>C	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.313G>C	19.37:g.14150414G>C	ENSP00000263379:p.Val105Leu						p.V105L	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			3	438	+			105					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.313G>C	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122095	0.37436	.	.	ENSG00000104998	ENST00000263379	T	0.61627	0.09	4.54	3.49	0.39957	.	0.186040	0.26373	N	0.024748	T	0.38214	0.1032	L	0.32530	0.975	0.23903	N	0.996516	P	0.43857	0.819	B	0.35813	0.211	T	0.17776	-1.0358	10	0.26408	T	0.33	-7.062	7.834	0.29360	0.115:0.0:0.885:0.0	.	105	Q6UWB1	I27RA_HUMAN	L	105	ENSP00000263379:V105L	ENSP00000263379:V105L	V	+	1	0	IL27RA	14011414	0.801000	0.28930	0.900000	0.35374	0.365000	0.29674	0.973000	0.29422	1.251000	0.43983	0.555000	0.69702	GTC		0.607	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		29	91	0	0	0	1	0	29	91				
MYH13	8735	broad.mit.edu	37	17	10265435	10265435	+	Splice_Site	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:10265435C>A	ENST00000418404.3	-	4	668	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	MYH13_ENST00000252172.4_Splice_Site_p.D169Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	169	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTACTCACCAGTCAGCATG	0.468																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.e4+1		myosin, heavy chain 13, skeletal muscle							112.0	123.0	119.0					17																	10265435		2203	4300	6503	SO:0001630	splice_region_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265435C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.505+1G>T	17.37:g.10265435C>A						MYH13_ENST00000252172.4_Splice_Site_p.D169_splice|MYH13_ENST00000570743.1_Splice_Site_p.D169_splice	p.D169_splice			Q9UKX3	MYH13_HUMAN			4	668	-			169			Myosin head-like.		O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	c.505_splice	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009811	0.54361	.	.	ENSG00000006788	ENST00000252172	D	0.88277	-2.36	3.32	3.32	0.38043	Myosin head, motor domain (2);	.	.	.	.	D	0.94528	0.8238	M	0.88906	2.99	0.52501	D	0.999955	D	0.89917	1.0	D	0.80764	0.994	D	0.94888	0.8045	8	.	.	.	.	12.9084	0.58166	0.0:1.0:0.0:0.0	.	169	Q9UKX3	MYH13_HUMAN	Y	169	ENSP00000252172:D169Y	.	D	-	1	0	MYH13	10206160	1.000000	0.71417	0.953000	0.39169	0.480000	0.33159	4.692000	0.61746	2.164000	0.68074	0.313000	0.20887	GAT		0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Missense_Mutation	8	188	1	0	1.58986e-06	1	1.82961e-06	8	188				
CAMK4	814	broad.mit.edu	37	5	110814199	110814199	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:110814199G>T	ENST00000282356.4	+	9	1220	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAATGCCAAGGACTTGGTAA	0.303																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(820-822)aaG>aaT		calcium/calmodulin-dependent protein kinase IV							60.0	63.0	62.0					5																	110814199		2202	4299	6501	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110814199G>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.822G>T	5.37:g.110814199G>T	ENSP00000282356:p.Lys274Asn					CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	9	1220	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	274			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.822G>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446312	0.84101	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68479	-0.33;-0.33	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099399	0.64402	D	0.000002	D	0.84469	0.5479	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87925	0.2706	10	0.87932	D	0	.	14.7283	0.69360	0.0695:0.0:0.9305:0.0	.	274	Q16566	KCC4_HUMAN	N	274	ENSP00000422634:K274N;ENSP00000282356:K274N	ENSP00000282356:K274N	K	+	3	2	CAMK4	110842098	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.299000	0.72770	1.438000	0.47492	0.591000	0.81541	AAG		0.303	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		9	35	1	0	0.000274275	1	0.000301287	9	35				
CNTROB	116840	broad.mit.edu	37	17	7842864	7842864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7842864G>T	ENST00000563694.1	+	8	1886	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CNTROB_ENST00000380262.3_Nonsense_Mutation_p.E321*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	321					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCTGAGGTTGGAGGCAGAACA	0.582																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(961-963)Gag>Tag		centrobin, centrosomal BRCA2 interacting protein							96.0	91.0	92.0					17																	7842864		2203	4300	6503	SO:0001587	stop_gained	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842864G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.961G>T	17.37:g.7842864G>T	ENSP00000456335:p.Glu321*					CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*	p.E321*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1886	+		Prostate(122;0.173)	321					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	ENST00000563694.1	37	c.961G>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992366	0.99029	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.36	5.36	0.76844	.	0.114128	0.39475	N	0.001348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.6009	13.5889	0.61948	0.0:0.1562:0.8438:0.0	.	.	.	.	X	321	.	ENSP00000369605:E321X	E	+	1	0	CNTROB	7783589	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	4.129000	0.57957	2.522000	0.85027	0.313000	0.20887	GAG		0.582	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		24	110	1	0	1.42536e-11	1	1.73678e-11	24	110				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	50	0	0	0	1	0	4	50				
CRLF1	9244	broad.mit.edu	37	19	18709695	18709695	+	Silent	SNP	G	G	A	rs199728865	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:18709695G>A	ENST00000392386.3	-	3	607	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	138	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L (in CISS1). {ECO:0000269|PubMed:23026229}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGATGTTGACGGGTTTCTCTG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		15482	0.001		0.0	False		,,,				2504	0.001					ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(412-414)ccC>ccT		cytokine receptor-like factor 1							85.0	86.0	85.0					19																	18709695		2203	4300	6503	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709695G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.414C>T	19.37:g.18709695G>A							p.P138P	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			3	607	-			138			Fibronectin type-III 1.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.414C>T	CCDS32962.1																																																																																				0.632	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			15	78	0	0	0	1	0	15	78				
AHNAK2	113146	broad.mit.edu	37	14	105417976	105417976	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105417976G>A	ENST00000333244.5	-	7	3931	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCAGCTTGGGGCCCCTGAC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3811-3813)cCc>cTc		AHNAK nucleoprotein 2							75.0	63.0	67.0					14																	105417976		1794	3238	5032	SO:0001583	missense	113146					nucleus		g.chr14:105417976G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3812C>T	14.37:g.105417976G>A	ENSP00000353114:p.Pro1271Leu					AHNAK2_ENST00000557457.1_Intron	p.P1271L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3931	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1271					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3812C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	14.41	2.527615	0.44969	.	.	ENSG00000185567	ENST00000333244	T	0.03004	4.08	4.05	4.05	0.47172	.	.	.	.	.	T	0.18882	0.0453	M	0.85542	2.76	0.43255	D	0.995185	D	0.65815	0.995	D	0.68943	0.961	T	0.01326	-1.1384	9	0.62326	D	0.03	.	13.7127	0.62678	0.0:0.0:1.0:0.0	.	1271	Q8IVF2	AHNK2_HUMAN	L	1271	ENSP00000353114:P1271L	ENSP00000353114:P1271L	P	-	2	0	AHNAK2	104489021	0.055000	0.20627	0.869000	0.34112	0.115000	0.19883	1.896000	0.39789	1.822000	0.53115	0.313000	0.20887	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	220	0	0	0	1	0	6	220				
PRF1	5551	broad.mit.edu	37	10	72358721	72358721	+	Silent	SNP	G	G	A	rs150053969		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:72358721G>A	ENST00000441259.1	-	3	916	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRF1_ENST00000373209.2_Silent_p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	252	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		N -> S (in FHL2; dbSNP:rs28933375). {ECO:0000269|PubMed:10583959}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCCACCTCGTTGTCCGTGA	0.637			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(754-756)aaC>aaT		perforin 1 (pore forming protein)		G	,	0,4406		0,0,2203	125.0	88.0	101.0		756,756	-6.4	0.0	10	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PRF1	NM_001083116.1,NM_005041.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	252/556,252/556	72358721	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358721G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.756C>T	10.37:g.72358721G>A						PRF1_ENST00000373209.2_Silent_p.N252N	p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	916	-			252		N -> S (in FHL2; dbSNP:rs28933375).	MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.756C>T	CCDS7305.1																																																																																				0.637	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		11	69	0	0	0	1	0	11	69				
KMO	8564	broad.mit.edu	37	1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241713007G>T	ENST00000366559.4	+	3	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.R52I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACACGTGGAAGAAGCATTAAC	0.423																																						ENST00000366559.4																			1	Substitution - Missense(1)	p.R52I(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(154-156)aGa>aTa		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							175.0	154.0	161.0					1																	241713007		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241713007G>T	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.155G>T	1.37:g.241713007G>T	ENSP00000355517:p.Arg52Ile					KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	p.R52I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		3	466	+	Ovarian(103;0.103)|all_lung(81;0.23)		52						Missense_Mutation	SNP	ENST00000366559.4	37	c.155G>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764121	0.89932	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51817	0.69;0.69;0.69	5.37	5.37	0.77165	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.93594	3.435	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74348	0.983;0.972;0.97	T	0.82139	-0.0605	10	0.87932	D	0	.	14.9668	0.71201	0.0:0.0:1.0:0.0	.	52;52;52	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	I	52	ENSP00000355517:R52I;ENSP00000355516:R52I;ENSP00000355515:R52I	ENSP00000355515:R52I	R	+	2	0	KMO	239779630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.994000	0.76251	2.677000	0.91161	0.655000	0.94253	AGA		0.423	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		25	92	1	0	1.33986e-20	1	1.66051e-20	25	92				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	31	0	0	0	1	0	3	31				
AHNAK2	113146	broad.mit.edu	37	14	105405095	105405095	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105405095C>A	ENST00000333244.5	-	7	16812	c.16693G>T	c.(16693-16695)Gat>Tat	p.D5565Y	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5565						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTGGAGATCTCCAGAAATG	0.502																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16693-16695)Gat>Tat		AHNAK nucleoprotein 2							78.0	74.0	75.0					14																	105405095		1939	4140	6079	SO:0001583	missense	113146					nucleus		g.chr14:105405095C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16693G>T	14.37:g.105405095C>A	ENSP00000353114:p.Asp5565Tyr					AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	p.D5565Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16812	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5565					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16693G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272169	0.40194	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03330	3.97;4.09	4.48	2.5	0.30297	.	1.126930	0.06945	U	0.813617	T	0.08802	0.0218	L	0.53249	1.67	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.32798	-0.9893	10	0.66056	D	0.02	.	2.6326	0.04949	0.2238:0.4975:0.0:0.2787	.	5565	Q8IVF2	AHNK2_HUMAN	Y	563;5565	ENSP00000450998:D563Y;ENSP00000353114:D5565Y	ENSP00000353114:D5565Y	D	-	1	0	AHNAK2	104476140	0.005000	0.15991	0.005000	0.12908	0.022000	0.10575	1.241000	0.32743	0.861000	0.35504	0.655000	0.94253	GAT		0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	32	1	0	1	1	1	5	32				
PPARGC1A	10891	broad.mit.edu	37	4	23816063	23816063	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:23816063C>T	ENST00000264867.2	-	8	1162	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	348					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTCCGGCCCTTTCTTGGT	0.532																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1042-1044)gGg>gAg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							138.0	140.0	139.0					4																	23816063		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816063C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1043G>A	4.37:g.23816063C>T	ENSP00000264867:p.Gly348Glu					PPARGC1A_ENST00000509702.1_5'UTR	p.G348E	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1162	-		Breast(46;0.0503)	348					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1043G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127635	0.77549	.	.	ENSG00000109819	ENST00000264867	T	0.22743	1.94	6.06	6.06	0.98353	.	0.088347	0.85682	D	0.000000	T	0.49575	0.1565	M	0.79926	2.475	0.80722	D	1	D	0.65815	0.995	P	0.62560	0.904	T	0.37267	-0.9713	10	0.45353	T	0.12	-10.5368	20.6397	0.99537	0.0:1.0:0.0:0.0	.	348	Q9UBK2	PRGC1_HUMAN	E	348	ENSP00000264867:G348E	ENSP00000264867:G348E	G	-	2	0	PPARGC1A	23425161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.467000	0.60155	2.880000	0.98712	0.650000	0.86243	GGG		0.532	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		26	53	0	0	0	1	0	26	53				
RIMBP2	23504	broad.mit.edu	37	12	130921640	130921640	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:130921640G>T	ENST00000261655.4	-	10	1965	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	601	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACTTGCTAATGGCTTTGATTG	0.652																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1801-1803)cCa>cAa		RIMS binding protein 2							58.0	46.0	50.0					12																	130921640		2203	4299	6502	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921640G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1802C>A	12.37:g.130921640G>T	ENSP00000261655:p.Pro601Gln					RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q	p.P601Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1965	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	601			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1802C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350294	0.61183	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30714	1.52;1.52;1.52	4.63	4.63	0.57726	.	0.234432	0.36167	N	0.002746	T	0.57902	0.2085	M	0.77820	2.39	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.993	D;D;P	0.87578	0.998;0.988;0.855	T	0.62676	-0.6804	10	0.51188	T	0.08	-11.9326	17.4987	0.87725	0.0:0.0:1.0:0.0	.	509;509;601	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	Q	601;509;509;509	ENSP00000261655:P601Q;ENSP00000440347:P509Q;ENSP00000439159:P509Q	ENSP00000261655:P601Q	P	-	2	0	RIMBP2	129487593	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	9.514000	0.98013	2.121000	0.65114	0.561000	0.74099	CCA		0.652	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	14	1	0	0.00024832	1	0.000274858	4	14				
ZMYM4	9202	broad.mit.edu	37	1	35884163	35884163	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:35884163C>T	ENST00000314607.6	+	29	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_ENST00000373297.2_Silent_p.L1388L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1477					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(4429-4431)Ctg>Ttg		zinc finger, MYM-type 4							133.0	120.0	124.0					1																	35884163		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35884163C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4429C>T	1.37:g.35884163C>T						ZMYM4_ENST00000373297.2_Silent_p.L1388L	p.L1477L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			29	4509	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1477					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.4429C>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947888	0.18356	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.84	0.806	0.18708	.	.	.	.	.	T	0.56247	0.1972	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50566	-0.8813	4	.	.	.	-6.1429	9.3112	0.37905	0.0:0.5459:0.0:0.4541	.	.	.	.	L	1135	.	.	P	+	2	0	ZMYM4	35656750	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.736000	0.26130	0.390000	0.25115	0.650000	0.86243	CCT		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		4	50	0	0	0	1	0	4	50				
STARD13	90627	broad.mit.edu	37	13	33700314	33700314	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:33700314G>A	ENST00000336934.5	-	7	2102	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	STARD13_ENST00000255486.4_Silent_p.G654G|STARD13_ENST00000399365.3_Silent_p.G544G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	662					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGAGAGGAACGCCAAAGACAG	0.488																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1984-1986)ggC>ggT		StAR-related lipid transfer (START) domain containing 13							199.0	176.0	184.0					13																	33700314		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33700314G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1986C>T	13.37:g.33700314G>A						STARD13_ENST00000399365.3_Silent_p.G544G|STARD13_ENST00000255486.4_Silent_p.G654G	p.G662G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	7	2102	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	662					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1986C>T	CCDS9348.1																																																																																				0.488	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		26	158	0	0	0	1	0	26	158				
KIAA1644	85352	broad.mit.edu	37	22	44681558	44681558	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:44681558G>C	ENST00000381176.4	-	4	481	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	117						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATACAAAAGGTCCAGAACC	0.532																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(349-351)Ctt>Gtt		KIAA1644							184.0	178.0	180.0					22																	44681558		2069	4213	6282	SO:0001583	missense	85352					integral to membrane		g.chr22:44681558G>C	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.349C>G	22.37:g.44681558G>C	ENSP00000370568:p.Leu117Val						p.L117V	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	481	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	117					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.349C>G	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566521	0.65651	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.062767	0.64402	D	0.000003	T	0.48259	0.1490	N	0.24115	0.695	0.28259	N	0.924934	P	0.50156	0.932	P	0.48571	0.582	T	0.62774	-0.6783	8	0.66056	D	0.02	-17.0177	15.5806	0.76432	0.0:0.0:1.0:0.0	.	117	Q3SXP7	K1644_HUMAN	V	117	.	ENSP00000370568:L117V	L	-	1	0	KIAA1644	43012891	1.000000	0.71417	0.518000	0.27811	0.963000	0.63663	5.396000	0.66297	2.345000	0.79718	0.561000	0.74099	CTT		0.532	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		53	268	0	0	0	1	0	53	268				
RNF31	55072	broad.mit.edu	37	14	24617597	24617597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:24617597G>A	ENST00000324103.6	+	3	790	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	157	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGCTGCTTCGGACAGAGCTC	0.547																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(469-471)cGg>cAg		ring finger protein 31							58.0	61.0	60.0					14																	24617597		2077	4207	6284	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617597G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.470G>A	14.37:g.24617597G>A	ENSP00000315112:p.Arg157Gln					RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR	p.R157Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	790	+			157			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.470G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963642	0.92791	.	.	ENSG00000092098	ENST00000324103	T	0.51071	0.72	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.42131	0.1189	L	0.53249	1.67	0.80722	D	1	D	0.57571	0.98	B	0.40864	0.342	T	0.48614	-0.9020	10	0.87932	D	0	-17.6587	10.9227	0.47174	0.0863:0.0:0.9137:0.0	.	157	Q96EP0	RNF31_HUMAN	Q	157	ENSP00000315112:R157Q	ENSP00000315112:R157Q	R	+	2	0	RNF31	23687437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	2.662000	0.90505	0.655000	0.94253	CGG		0.547	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		12	38	0	0	0	1	0	12	38				
NINL	22981	broad.mit.edu	37	20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	rs140736402		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:25481559C>T	ENST00000278886.6	-	8	1022	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_ENST00000422516.1_Missense_Mutation_p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	317					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19663	0.0		0.001	False		,,,				2504	0.0					ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(949-951)Gat>Aat		ninein-like		C	ASN/ASP	0,4406		0,0,2203	176.0	129.0	145.0		949	3.0	0.2	20	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NINL	NM_025176.4	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	317/1383	25481559	2,13004	2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481559C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.949G>A	20.37:g.25481559C>T	ENSP00000278886:p.Asp317Asn					NINL_ENST00000422516.1_Missense_Mutation_p.D317N	p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			8	1022	-			317					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.949G>A	CCDS33452.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.77	3.470322	0.63625	0.0	2.33E-4	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.39787	1.35;1.06	5.0	2.95	0.34219	.	0.132796	0.47852	N	0.000204	T	0.38108	0.1028	M	0.77820	2.39	0.41571	D	0.988689	P;P	0.48230	0.798;0.907	B;B	0.37198	0.243;0.086	T	0.33471	-0.9867	10	0.51188	T	0.08	-29.6533	7.9463	0.29989	0.0:0.791:0.0:0.209	.	317;317	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	N	317	ENSP00000278886:D317N;ENSP00000410431:D317N	ENSP00000278886:D317N	D	-	1	0	NINL	25429559	0.979000	0.34478	0.212000	0.23672	0.687000	0.40016	3.109000	0.50345	0.611000	0.30052	0.563000	0.77884	GAT		0.582	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		5	64	0	0	0	1	0	5	64				
PTBP1	5725	broad.mit.edu	37	19	803627	803627	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:803627G>A	ENST00000349038.4	+	3	179	c.106G>A	c.(106-108)Gct>Act	p.A36T	PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A36T	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	36					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAACTCGGCTTCTGCAGG	0.547																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(106-108)Gct>Act		polypyrimidine tract binding protein 1							100.0	97.0	98.0					19																	803627		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803627G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.106G>A	19.37:g.803627G>A	ENSP00000014112:p.Ala36Thr					PTBP1_ENST00000349038.4_Missense_Mutation_p.A36T|PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T|PTBP1_ENST00000350092.4_Intron	p.A36T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	529	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	36					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.106G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978309	0.02197	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.43688	0.94;0.94;1.26	4.45	1.04	0.20106	.	1.148650	0.06688	N	0.769162	T	0.23611	0.0571	N	0.13098	0.295	0.09310	N	0.999995	B;B;B	0.22604	0.072;0.015;0.009	B;B;B	0.25405	0.05;0.06;0.027	T	0.28267	-1.0049	10	0.13470	T	0.59	-14.6678	5.0699	0.14602	0.1518:0.1171:0.6115:0.1197	.	36;36;36	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	36	ENSP00000349428:A36T;ENSP00000408096:A36T;ENSP00000014112:A36T	ENSP00000014112:A36T	A	+	1	0	PTBP1	754627	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.117000	0.11872	-1.151000	0.01829	GCT		0.547	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	125	0	0	0	1	0	4	125				
CEP120	153241	broad.mit.edu	37	5	122700259	122700259	+	Silent	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:122700259T>C	ENST00000306467.5	-	18	2815	c.2511A>G	c.(2509-2511)gcA>gcG	p.A837A	CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	837					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAGACTTAGTTGCAGATTCCA	0.338																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2509-2511)gcA>gcG		centrosomal protein 120kDa							131.0	126.0	128.0					5																	122700259		2203	4300	6503	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122700259T>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2511A>G	5.37:g.122700259T>C						CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A	p.A837A			Q8N960	CE120_HUMAN			18	2815	-			837					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.2511A>G	CCDS4134.2																																																																																				0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		13	63	0	0	0	1	0	13	63				
SMG1	23049	broad.mit.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(37-39)Ggc>Agc		SMG1 phosphatidylinositol 3-kinase-related kinase							2.0	3.0	3.0					16																	18937327		1046	2801	3847	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937327C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.37G>A	16.37:g.18937327C>T	ENSP00000402515:p.Gly13Ser					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S	p.G13S			Q96Q15	SMG1_HUMAN			1	449	-			13			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.37G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	21	0	0	0	1	0	3	21				
WNK1	65125	broad.mit.edu	37	12	993363	993363	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:993363C>T	ENST00000315939.6	+	18	4441	c.3798C>T	c.(3796-3798)agC>agT	p.S1266S	WNK1_ENST00000340908.4_Silent_p.S859S|WNK1_ENST00000537687.1_Silent_p.S1526S|WNK1_ENST00000535572.1_Silent_p.S1019S|WNK1_ENST00000530271.2_Silent_p.S1764S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1266					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCCAGAAAGCCGATTACGAG	0.408																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(4576-4578)agC>agT		WNK lysine deficient protein kinase 1							125.0	127.0	126.0					12																	993363		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993363C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3798C>T	12.37:g.993363C>T						WNK1_ENST00000315939.6_Silent_p.S1266S|WNK1_ENST00000535572.1_Silent_p.S1019S|WNK1_ENST00000530271.2_Silent_p.S1764S|WNK1_ENST00000340908.4_Silent_p.S859S	p.S1526S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	5221	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1266					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4578C>T	CCDS8506.1																																																																																				0.408	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	139	0	0	0	1	0	4	139				
RALYL	138046	broad.mit.edu	37	8	85799876	85799876	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:85799876G>T	ENST00000521268.1	+	8	1828	c.723G>T	c.(721-723)ctG>ctT	p.L241L	RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000521695.1_Silent_p.L241L|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000522455.1_Silent_p.L241L|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	241							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCTAGTGCTGATCCAAGAGG	0.498																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(721-723)ctG>ctT		RALY RNA binding protein-like							122.0	121.0	122.0					8																	85799876		1953	4132	6085	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799876G>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.723G>T	8.37:g.85799876G>T						RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000521695.1_Silent_p.L241L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000522455.1_Silent_p.L241L	p.L241L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1828	+			241					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.723G>T	CCDS55253.1																																																																																				0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			15	108	1	0	4.7546e-09	1	5.69767e-09	15	108				
ZNF781	163115	broad.mit.edu	37	19	38160483	38160483	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:38160483G>A	ENST00000590008.1	-	5	1419	c.567C>T	c.(565-567)ctC>ctT	p.L189L	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.L189L			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CTCTGGTGTTGAGTAAGTGTT	0.368																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(565-567)ctC>ctT		zinc finger protein 781							79.0	77.0	78.0					19																	38160483		2203	4300	6503	SO:0001819	synonymous_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160483G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.567C>T	19.37:g.38160483G>A						ZNF781_ENST00000590008.1_Silent_p.L189L|ZFP30_ENST00000586732.1_Intron	p.L189L	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1315	-			189					Q2VPJ8	Silent	SNP	ENST00000590008.1	37	c.567C>T	CCDS12507.1																																																																																				0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		12	68	0	0	0	1	0	12	68				
CAMK1G	57172	broad.mit.edu	37	1	209785550	209785550	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:209785550C>A	ENST00000009105.1	+	11	1574	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	CAMK1G_ENST00000361322.2_Silent_p.A443A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	443			A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCAAAAAGGCCAACAAAAAAC	0.527																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(1327-1329)gcC>gcA		calcium/calmodulin-dependent protein kinase IG							28.0	30.0	30.0					1																	209785550		2203	4296	6499	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785550C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1329C>A	1.37:g.209785550C>A						CAMK1G_ENST00000361322.2_Silent_p.A443A	p.A443A			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1574	+			443		A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).			Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1329C>A	CCDS1486.1																																																																																				0.527	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	56	1	0	0.00307968	1	0.0033078	8	56				
ZNF587	84914	broad.mit.edu	37	19	58370783	58370783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:58370783C>T	ENST00000339656.5	+	3	1185	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCTTTTGGTCAAAAGGGTAA	0.443																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1003-1005)Caa>Taa		zinc finger protein 587							115.0	150.0	138.0					19																	58370783		2198	4300	6498	SO:0001587	stop_gained	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370783C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1003C>T	19.37:g.58370783C>T	ENSP00000345479:p.Gln335*					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*|ZNF814_ENST00000597342.1_Intron	p.Q335*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1185	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	335					A0AV72|G3V0H5|Q6ZMK8	Nonsense_Mutation	SNP	ENST00000339656.5	37	c.1003C>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217349	0.58560	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	.	.	.	1.76	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.1074	0.20081	0.0:0.8194:0.0:0.1806	.	.	.	.	X	292;334;335;335;292	.	ENSP00000345479:Q335X	Q	+	1	0	ZNF587	63062595	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-4.154000	0.00284	0.940000	0.37473	0.195000	0.17529	CAA		0.443	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		32	75	0	0	0	1	0	32	75				
GPR83	10888	broad.mit.edu	37	11	94113782	94113782	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:94113782A>T	ENST00000243673.2	-	4	976	c.805T>A	c.(805-807)Tgt>Agt	p.C269S	GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	269					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCATATTACACAGCCACAGT	0.522																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(805-807)Tgt>Agt		G protein-coupled receptor 83							80.0	67.0	71.0					11																	94113782		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113782A>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.805T>A	11.37:g.94113782A>T	ENSP00000243673:p.Cys269Ser					GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	p.C269S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	976	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	269					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.805T>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206023	0.39003	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.35789	1.29;1.29	5.21	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.203486	0.53938	D	0.000054	T	0.10981	0.0268	N	0.00869	-1.13	0.38868	D	0.956639	B	0.18968	0.032	B	0.29862	0.108	T	0.05257	-1.0896	10	0.34782	T	0.22	.	2.3325	0.04239	0.456:0.2939:0.2501:0.0	.	269	Q9NYM4	GPR83_HUMAN	S	269;227	ENSP00000243673:C269S;ENSP00000441550:C227S	ENSP00000243673:C269S	C	-	1	0	GPR83	93753430	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	5.197000	0.65141	0.796000	0.33947	0.533000	0.62120	TGT		0.522	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		26	25	0	0	0	1	0	26	25				
GJA8	2703	broad.mit.edu	37	1	147380242	147380242	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:147380242T>C	ENST00000369235.1	+	1	160	c.160T>C	c.(160-162)Tgc>Cgc	p.C54R	GJA8_ENST00000240986.4_Missense_Mutation_p.C54R			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	54					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGACTTCGTGTGCAACACCCA	0.592																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(160-162)Tgc>Cgc		gap junction protein, alpha 8, 50kDa							137.0	109.0	118.0					1																	147380242		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380242T>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.160T>C	1.37:g.147380242T>C	ENSP00000358238:p.Cys54Arg					GJA8_ENST00000369235.1_Missense_Mutation_p.C54R	p.C54R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	213	+	all_hematologic(923;0.0276)		54					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.160T>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.949675	0.73787	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99741	-6.6;-6.6	5.0	5.0	0.66597	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96616	0.9456	10	0.87932	D	0	.	14.6739	0.68964	0.0:0.0:0.0:1.0	.	54	P48165	CXA8_HUMAN	R	54	ENSP00000240986:C54R;ENSP00000358238:C54R	ENSP00000240986:C54R	C	+	1	0	GJA8	145846866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.975000	0.88055	1.862000	0.54008	0.402000	0.26972	TGC		0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	60	0	0	0	1	0	5	60				
FAM181A	90050	broad.mit.edu	37	14	94395392	94395392	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:94395392A>G	ENST00000267594.5	+	3	1254	c.947A>G	c.(946-948)cAc>cGc	p.H316R	FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	316										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAGCTGGCGCACCTCTGCAAG	0.667																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(946-948)cAc>cGc		family with sequence similarity 181, member A							31.0	35.0	33.0					14																	94395392		2203	4299	6502	SO:0001583	missense	90050							g.chr14:94395392A>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.947A>G	14.37:g.94395392A>G	ENSP00000267594:p.His316Arg					FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R	p.H316R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1254	+			316					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.947A>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574679	0.45902	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000557000	T;T;T	0.30714	1.52;1.52;1.52	4.74	0.67	0.17923	.	0.000000	0.39146	N	0.001452	T	0.35451	0.0932	L	0.56769	1.78	0.39132	D	0.961873	P	0.47677	0.899	P	0.48227	0.571	T	0.31138	-0.9954	10	0.40728	T	0.16	-11.9727	13.2747	0.60180	0.4584:0.5416:0.0:0.0	.	316	Q8N9Y4	F181A_HUMAN	R	254;316;254;305	ENSP00000451802:H254R;ENSP00000267594:H316R;ENSP00000451678:H254R	ENSP00000267594:H316R	H	+	2	0	FAM181A	93465145	0.927000	0.31430	0.998000	0.56505	0.815000	0.46073	0.578000	0.23773	0.183000	0.20059	0.459000	0.35465	CAC		0.667	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		15	57	0	0	0	1	0	15	57				
NCOA6	23054	broad.mit.edu	37	20	33337674	33337674	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33337674T>C	ENST00000374796.2	-	10	4894	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	775	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGATGGACTGTTGTTCACAGG	0.557																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2323-2325)aAc>aGc		nuclear receptor coactivator 6							77.0	63.0	68.0					20																	33337674		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337674T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2324A>G	20.37:g.33337674T>C	ENSP00000363929:p.Asn775Ser					NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S	p.N775S			Q14686	NCOA6_HUMAN			10	4894	-			775			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2324A>G	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627907	0.28978	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24151	1.87;1.87	5.77	2.34	0.29019	.	0.229124	0.37955	N	0.001871	T	0.13713	0.0332	N	0.19112	0.55	0.30277	N	0.791704	B	0.02656	0.0	B	0.04013	0.001	T	0.09773	-1.0659	10	0.30078	T	0.28	-2.2599	7.1359	0.25527	0.0:0.359:0.0:0.641	.	775	Q14686	NCOA6_HUMAN	S	775	ENSP00000363929:N775S;ENSP00000351894:N775S	ENSP00000351894:N775S	N	-	2	0	NCOA6	32801335	0.959000	0.32827	1.000000	0.80357	0.998000	0.95712	0.245000	0.18142	1.017000	0.39495	0.460000	0.39030	AAC		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	57	0	0	0	1	0	10	57				
DENND2A	27147	broad.mit.edu	37	7	140267046	140267046	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:140267046T>G	ENST00000275884.6	-	8	2036	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	540					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCGGGACTTCACGTTGAC	0.562																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1618-1620)aAg>aCg		DENN/MADD domain containing 2A							30.0	32.0	32.0					7																	140267046		1921	4154	6075	SO:0001583	missense	27147							g.chr7:140267046T>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1619A>C	7.37:g.140267046T>G	ENSP00000275884:p.Lys540Thr					DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T	p.K540T			Q9ULE3	DEN2A_HUMAN			8	2036	-	Melanoma(164;0.00956)		540					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1619A>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694010	0.68386	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10860	3.53;3.53;3.53;2.83	5.86	4.71	0.59529	.	0.198263	0.44097	D	0.000485	T	0.19366	0.0465	L	0.40543	1.245	0.41131	D	0.985886	D;B	0.58268	0.982;0.389	P;B	0.58970	0.849;0.25	T	0.00752	-1.1581	10	0.46703	T	0.11	-21.5225	11.614	0.51078	0.0:0.069:0.0:0.931	.	540;540	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	540	ENSP00000275884:K540T;ENSP00000442245:K540T;ENSP00000419654:K540T;ENSP00000419464:K540T	ENSP00000275884:K540T	K	-	2	0	DENND2A	139913515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.624000	0.61254	1.058000	0.40530	0.533000	0.62120	AAG		0.562	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		11	76	0	0	0	1	0	11	76				
VDAC1	7416	broad.mit.edu	37	5	133326754	133326754	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:133326754G>A	ENST00000265333.3	-	4	453	c.209C>T	c.(208-210)aCg>aTg	p.T70M	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M|VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTCTGTAAACGTCAGGCCGTA	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(208-210)aCg>aTg		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						201.0	181.0	188.0					5																	133326754		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326754G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.209C>T	5.37:g.133326754G>A	ENSP00000265333:p.Thr70Met					VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M	p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	453	-			70					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.209C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065916	0.76187	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.91	5.91	0.95273	.	0.045121	0.85682	D	0.000000	T	0.59224	0.2178	M	0.78801	2.425	0.80722	D	1	D	0.58620	0.983	P	0.50082	0.63	T	0.64584	-0.6373	10	0.72032	D	0.01	.	13.9012	0.63804	0.0777:0.0:0.9223:0.0	.	70	P21796	VDAC1_HUMAN	M	70	ENSP00000265333:T70M;ENSP00000378484:T70M;ENSP00000378487:T70M;ENSP00000390129:T70M	ENSP00000265333:T70M	T	-	2	0	VDAC1	133354653	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.517000	0.73759	2.793000	0.96121	0.655000	0.94253	ACG		0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			20	124	0	0	0	1	0	20	124				
RASSF5	83593	broad.mit.edu	37	1	206760350	206760350	+	3'UTR	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:206760350T>C	ENST00000355294.4	+	0	1354				RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000367117.3_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAGatttatttgtattatt	0.463																																					GBM(162;656 1984 11916 22872 31529)	ENST00000338603.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(1165-1167)taT>taC		Ras association (RalGDS/AF-6) domain family member 5							26.0	25.0	25.0					1																	206760350		2203	4296	6499	SO:0001624	3_prime_UTR_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760350T>C	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.*40T>C	1.37:g.206760350T>C						RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000355294.4_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron	p.Y389Y	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		7	1224	+	Breast(84;0.183)		0			SARAH.		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	c.1167T>C	CCDS30998.1																																																																																				0.463	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		7	27	0	0	0	1	0	7	27				
DVL2	1856	broad.mit.edu	37	17	7137547	7137547	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7137547C>T	ENST00000005340.5	-	1	317	c.35G>A	c.(34-36)gGg>gAg	p.G12E	DVL2_ENST00000575458.1_Missense_Mutation_p.G12E|PHF23_ENST00000570753.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	12	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.|Poly-Gly.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(34-36)gGg>gAg		dishevelled segment polarity protein 2							80.0	73.0	76.0					17																	7137547		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7137547C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.35G>A	17.37:g.7137547C>T	ENSP00000005340:p.Gly12Glu					DVL2_ENST00000575458.1_Missense_Mutation_p.G12E	p.G12E	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			1	317	-			12			DIX.|Poly-Gly.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.35G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509939	0.64522	.	.	ENSG00000004975	ENST00000005340	T	0.40756	1.02	4.51	4.51	0.55191	DIX (2);	0.074988	0.53938	D	0.000054	T	0.37183	0.0994	N	0.10664	0.02	0.39122	D	0.961674	P;D;P	0.69078	0.952;0.997;0.952	P;D;P	0.69142	0.822;0.962;0.822	T	0.17410	-1.0370	10	0.02654	T	1	-18.0128	14.6985	0.69139	0.0:1.0:0.0:0.0	.	12;12;12	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	E	12	ENSP00000005340:G12E	ENSP00000005340:G12E	G	-	2	0	DVL2	7078271	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.723000	0.38053	2.055000	0.61198	0.484000	0.47621	GGG		0.667	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		8	100	0	0	0	1	0	8	100				
LRRC28	123355	broad.mit.edu	37	15	99901591	99901591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:99901591C>T	ENST00000301981.3	+	8	986	c.746C>T	c.(745-747)tCa>tTa	p.S249L	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	249										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCTTTTCATCAGGGCAGCGA	0.488											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(745-747)tCa>tTa		leucine rich repeat containing 28							138.0	115.0	122.0					15																	99901591		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901591C>T	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.746C>T	15.37:g.99901591C>T	ENSP00000304923:p.Ser249Leu		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L|LRRC28_ENST00000558879.1_Intron	p.S249L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		8	986	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		249					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.746C>T	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261685	0.39995	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.44482	2.16;0.92;1.47	5.25	4.33	0.51752	.	0.398309	0.27846	N	0.017604	T	0.52224	0.1721	L	0.43152	1.355	0.80722	D	1	D;D;D	0.63880	0.993;0.992;0.967	D;D;P	0.72338	0.977;0.974;0.879	T	0.43245	-0.9403	10	0.11485	T	0.65	.	14.6519	0.68803	0.1464:0.8535:0.0:0.0	.	180;249;249	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	L	249;249;180	ENSP00000304923:S249L;ENSP00000404520:S249L;ENSP00000398606:S180L	ENSP00000304923:S249L	S	+	2	0	LRRC28	97719114	0.998000	0.40836	0.874000	0.34290	0.981000	0.71138	4.285000	0.58989	1.328000	0.45358	0.655000	0.94253	TCA		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		29	16	0	0	0	1	0	29	16				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	44	0	0	0	1	0	4	44				
ARHGAP10	79658	broad.mit.edu	37	4	148786095	148786095	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:148786095G>T	ENST00000336498.3	+	6	824	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(583-585)gaG>gaT		Rho GTPase activating protein 10							115.0	116.0	116.0					4																	148786095		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148786095G>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.585G>T	4.37:g.148786095G>T	ENSP00000336923:p.Glu195Asp						p.E195D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	6	824	+	all_hematologic(180;0.151)	Renal(17;0.0166)	195			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.585G>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380593	0.61845	.	.	ENSG00000071205	ENST00000336498	T	0.05649	3.41	5.71	2.08	0.27032	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.00140	-1.2000	10	0.59425	D	0.04	.	10.0731	0.42345	0.2805:0.0:0.7195:0.0	.	195	A1A4S6	RHG10_HUMAN	D	195	ENSP00000336923:E195D	ENSP00000336923:E195D	E	+	3	2	ARHGAP10	149005545	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.723000	0.25939	0.076000	0.16826	0.655000	0.94253	GAG		0.378	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		14	41	1	0	3.27435e-08	1	3.89165e-08	14	41				
CERS6	253782	broad.mit.edu	37	2	169417809	169417809	+	Silent	SNP	G	G	A	rs556558587		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:169417809G>A	ENST00000305747.6	+	3	971	c.384G>A	c.(382-384)acG>acA	p.T128T	CERS6_ENST00000392687.4_Silent_p.T128T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	128					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGCCAAGCACGCTGACGAGGT	0.448																																						ENST00000305747.6																			0											c.(382-384)acG>acA		ceramide synthase 6							138.0	131.0	133.0					2																	169417809		2203	4300	6503	SO:0001819	synonymous_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417809G>A	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.384G>A	2.37:g.169417809G>A						CERS6_ENST00000392687.4_Silent_p.T128T	p.T128T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	971	+			128					Q32M63|Q8N617	Silent	SNP	ENST00000305747.6	37	c.384G>A	CCDS2228.1																																																																																				0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		71	48	0	0	0	1	0	71	48				
WDR64	128025	broad.mit.edu	37	1	241912941	241912941	+	Missense_Mutation	SNP	C	C	T	rs76254601	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241912941C>T	ENST00000366552.2	+	13	1864	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	553										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGCCTACGACGCCTCATTTT	0.532													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16914	0.0		0.0	False		,,,				2504	0.0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1657-1659)Cgc>Tgc		WD repeat domain 64		C	CYS/ARG	53,4353	53.6+/-89.4	0,53,2150	155.0	150.0	152.0		1657	4.2	0.0	1	dbSNP_131	152	0,8600		0,0,4300	yes	missense	WDR64	NM_144625.4	180	0,53,6450	TT,TC,CC		0.0,1.2029,0.4075	benign	553/1082	241912941	53,12953	2203	4300	6503	SO:0001583	missense	128025							g.chr1:241912941C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1657C>T	1.37:g.241912941C>T	ENSP00000355510:p.Arg553Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		13	1864	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	553					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1657C>T		7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	12.69	2.015077	0.35511	0.012029	0.0	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.47869	0.83;0.83;0.83	6.06	4.18	0.49190	WD40 repeat-like-containing domain (1);	1.101940	0.06714	N	0.773800	T	0.39009	0.1062	L	0.47716	1.5	0.09310	N	0.999999	B;D	0.62365	0.082;0.991	B;B	0.44315	0.005;0.446	T	0.28038	-1.0056	10	0.52906	T	0.07	-0.2958	10.4617	0.44583	0.1388:0.699:0.1623:0.0	.	553;273	B1ANS9;D1MPS4	WDR64_HUMAN;.	C	553;553;324	ENSP00000355510:R553C;ENSP00000402446:R553C;ENSP00000406656:R324C	ENSP00000355510:R553C	R	+	1	0	WDR64	239979564	0.032000	0.19561	0.028000	0.17463	0.003000	0.03518	1.511000	0.35801	0.871000	0.35750	-0.182000	0.12963	CGC		0.532	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		29	83	0	0	0	1	0	29	83				
APOB	338	broad.mit.edu	37	2	21228379	21228379	+	Silent	SNP	G	G	A	rs200979977		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:21228379G>A	ENST00000233242.1	-	26	11488	c.11361C>T	c.(11359-11361)ccC>ccT	p.P3787P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTACCTCGGGGAGTGTTG	0.398																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11359-11361)ccC>ccT		apolipoprotein B	Atorvastatin(DB01076)						119.0	122.0	121.0					2																	21228379		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228379G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11361C>T	2.37:g.21228379G>A							p.P3787P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11488	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3787					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11361C>T	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			94	103	0	0	0	1	0	94	103				
TNIK	23043	broad.mit.edu	37	3	170843819	170843819	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:170843819C>T	ENST00000436636.2	-	17	2239	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	632	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCTCCACGCGGTGGGAGGT	0.577																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1894-1896)cGc>cAc		TRAF2 and NCK interacting kinase							78.0	80.0	80.0					3																	170843819		1917	4125	6042	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843819C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1895G>A	3.37:g.170843819C>T	ENSP00000399511:p.Arg632His					TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H	p.R632H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2239	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		632			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1895G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035619	0.93630	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74737	0.87;0.87;-0.83;-0.85;0.87;-0.87;0.87;-0.83;-0.83;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	L	0.55990	1.75	0.80722	D	1	D;P;D;D;P;P;D;P	0.76494	0.999;0.763;0.999;0.999;0.943;0.943;0.999;0.906	D;B;D;D;P;B;D;B	0.77004	0.989;0.329;0.989;0.989;0.629;0.445;0.989;0.425	T	0.82808	-0.0274	10	0.46703	T	0.11	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	548;603;577;548;632;603;577;632	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	632;603;577;548;632;548;603;577;577;603	ENSP00000399511:R632H;ENSP00000358332:R603H;ENSP00000443278:R577H;ENSP00000345352:R548H;ENSP00000284483:R632H;ENSP00000418156:R548H;ENSP00000349880:R603H;ENSP00000418916:R577H;ENSP00000418378:R577H;ENSP00000419990:R603H	ENSP00000284483:R632H	R	-	2	0	TNIK	172326513	1.000000	0.71417	0.971000	0.41717	0.829000	0.46940	7.323000	0.79105	2.832000	0.97577	0.655000	0.94253	CGC		0.577	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		40	63	0	0	0	1	0	40	63				
PLOD1	5351	broad.mit.edu	37	1	12030871	12030871	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12030871A>G	ENST00000196061.4	+	17	1927	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	634					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CTACTACACCAGGGTGGGCAA	0.607																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1900-1902)Agg>Ggg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						45.0	41.0	43.0					1																	12030871		2202	4300	6502	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12030871A>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1900A>G	1.37:g.12030871A>G	ENSP00000196061:p.Arg634Gly					PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	p.R634G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	17	1927	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	634					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1900A>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366566	0.61513	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.63913	-0.07;-0.06	5.94	4.8	0.61643	Prolyl 4-hydroxylase, alpha subunit (1);	0.230680	0.51477	D	0.000081	T	0.53850	0.1822	L	0.44542	1.39	0.51767	D	0.999933	B;B	0.25007	0.116;0.025	B;B	0.19148	0.024;0.022	T	0.52533	-0.8563	10	0.66056	D	0.02	.	12.5521	0.56231	0.8608:0.1392:0.0:0.0	.	681;634	B4DR87;Q02809	.;PLOD1_HUMAN	G	298;681;634	ENSP00000365548:R681G;ENSP00000196061:R634G	ENSP00000196061:R634G	R	+	1	2	PLOD1	11953458	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.130000	0.64745	1.053000	0.40415	0.459000	0.35465	AGG		0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		3	36	0	0	0	1	0	3	36				
PTGS2	5743	broad.mit.edu	37	1	186648456	186648456	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:186648456G>T	ENST00000367468.5	-	2	303	c.167C>A	c.(166-168)aCa>aAa	p.T56K	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	56					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AAACTTACGTGTTGAGCAGTT	0.428																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(166-168)aCa>aAa		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						135.0	113.0	120.0					1																	186648456		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648456G>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.167C>A	1.37:g.186648456G>T	ENSP00000356438:p.Thr56Lys					PTGS2_ENST00000490885.2_5'UTR	p.T56K	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			2	303	-			56					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.167C>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600397	0.46423	.	.	ENSG00000073756	ENST00000367468	T	0.63580	-0.05	5.27	5.27	0.74061	.	0.094532	0.64402	D	0.000001	T	0.52224	0.1721	L	0.42008	1.315	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46105	-0.9215	10	0.17832	T	0.49	-16.5824	13.4825	0.61345	0.0:0.0:0.8435:0.1565	.	56	P35354	PGH2_HUMAN	K	56	ENSP00000356438:T56K	ENSP00000356438:T56K	T	-	2	0	PTGS2	184915079	0.998000	0.40836	0.974000	0.42286	0.979000	0.70002	3.126000	0.50477	2.444000	0.82710	0.655000	0.94253	ACA		0.428	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		4	64	1	0	0.150653	1	0.15276	4	64				
TUB	7275	broad.mit.edu	37	11	8120328	8120328	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:8120328T>C	ENST00000299506.2	+	9	1171	c.1022T>C	c.(1021-1023)tTc>tCc	p.F341S	TUB_ENST00000305253.4_Missense_Mutation_p.F396S|TUB_ENST00000534099.1_Missense_Mutation_p.F347S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	341					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCACCAAGTTCACTGTTTAT	0.502											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1186-1188)tTc>tCc		tubby bipartite transcription factor							185.0	163.0	171.0					11																	8120328		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8120328T>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1022T>C	11.37:g.8120328T>C	ENSP00000299506:p.Phe341Ser		OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	TUB_ENST00000534099.1_Missense_Mutation_p.F347S|TUB_ENST00000299506.2_Missense_Mutation_p.F341S	p.F396S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	10	1428	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	341					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1187T>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536420	0.85812	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.98221	-4.8;-4.8;-4.8	5.12	5.12	0.69794	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99072	1.0834	10	0.87932	D	0	-13.9319	15.211	0.73225	0.0:0.0:0.0:1.0	.	347;341;396	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	347;396;341	ENSP00000434400:F347S;ENSP00000305426:F396S;ENSP00000299506:F341S	ENSP00000299506:F341S	F	+	2	0	TUB	8076904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.040000	0.60383	0.454000	0.30748	TTC		0.502	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		25	144	0	0	0	1	0	25	144				
COL1A1	1277	broad.mit.edu	37	17	48264042	48264042	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48264042G>T	ENST00000225964.5	-	48	3891	c.3773C>A	c.(3772-3774)aCc>aAc	p.T1258N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1258	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTCACGGCAGGTGCGGGCGGG	0.647			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3772-3774)aCc>aAc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						74.0	85.0	81.0					17																	48264042		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264042G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3773C>A	17.37:g.48264042G>T	ENSP00000225964:p.Thr1258Asn						p.T1258N	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			48	3891	-			1258			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3773C>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267701	0.40095	.	.	ENSG00000108821	ENST00000225964	T	0.76186	-1.0	3.93	3.93	0.45458	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	U	0.000000	T	0.80560	0.4646	M	0.69523	2.12	0.49687	D	0.999812	D	0.59767	0.986	P	0.54629	0.757	T	0.81243	-0.1021	10	0.38643	T	0.18	.	14.8661	0.70416	0.0:0.0:1.0:0.0	.	1258	P02452	CO1A1_HUMAN	N	1258	ENSP00000225964:T1258N	ENSP00000225964:T1258N	T	-	2	0	COL1A1	45619041	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.185000	0.72013	2.005000	0.58758	0.313000	0.20887	ACC		0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			16	148	1	0	4.7546e-09	1	5.69767e-09	16	148				
DIAPH3	81624	broad.mit.edu	37	13	60435606	60435606	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:60435606T>G	ENST00000400324.4	-	22	2892	c.2672A>C	c.(2671-2673)gAa>gCa	p.E891A	DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	891	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTCTCTTCACATATTTC	0.368																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2671-2673)gAa>gCa		diaphanous-related formin 3							146.0	135.0	138.0					13																	60435606		1830	4082	5912	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60435606T>G	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2672A>C	13.37:g.60435606T>G	ENSP00000383178:p.Glu891Ala					DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A	p.E891A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	22	2892	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	891			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2672A>C	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857564	0.91433	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.38	5.38	0.77491	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.81802	2.56	0.52099	D	0.999946	P;D;D	0.69078	0.575;0.994;0.997	P;D;D	0.76071	0.636;0.987;0.953	T	0.49762	-0.8905	10	0.87932	D	0	.	15.3898	0.74735	0.0:0.0:0.0:1.0	.	628;628;891	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	A	891;891;880;845;821;880;821;845;891;628;891	ENSP00000383178:E891A;ENSP00000383184:E891A;ENSP00000367141:E880A;ENSP00000383173:E821A;ENSP00000383174:E845A;ENSP00000267215:E891A	ENSP00000267214:E628A	E	-	2	0	DIAPH3	59333607	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.698000	0.84413	2.051000	0.60960	0.459000	0.35465	GAA		0.368	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	58	0	0	0	1	0	7	58				
CSN2	1447	broad.mit.edu	37	4	70823024	70823024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:70823024G>A	ENST00000353151.3	-	5	654	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCAAGTGGCTGAGTCACAGGG	0.463																																						ENST00000353151.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(643-645)Cag>Tag		casein beta							78.0	74.0	76.0					4																	70823024		2203	4300	6503	SO:0001587	stop_gained	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823024G>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.643C>T	4.37:g.70823024G>A	ENSP00000341030:p.Gln215*						p.Q215*	NM_001891.2	NP_001882.1	P05814	CASB_HUMAN			5	654	-			215	TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence).				O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonsense_Mutation	SNP	ENST00000353151.3	37	c.643C>T	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276478	0.40294	.	.	ENSG00000135222	ENST00000353151	.	.	.	3.89	2.06	0.26882	.	1.631500	0.03675	N	0.244716	.	.	.	.	.	.	0.35338	A	0.786268	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.1141	8.6331	0.33930	0.0:0.0:0.5827:0.4173	.	.	.	.	X	215	.	ENSP00000341030:Q215X	Q	-	1	0	CSN2	70857613	0.009000	0.17119	0.018000	0.16275	0.044000	0.14063	0.574000	0.23714	0.561000	0.29186	0.555000	0.69702	CAG		0.463	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			4	54	0	0	0	1	0	4	54				
DUSP27	92235	broad.mit.edu	37	1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652																																						ENST00000361200.2																			1	Substitution - Missense(1)	p.R467H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1399-1401)cGc>cAc		dual specificity phosphatase 27 (putative)							21.0	21.0	21.0					1																	167095768		2202	4300	6502	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095768G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1400G>A	1.37:g.167095768G>A	ENSP00000354483:p.Arg467His					DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron	p.R467H			Q5VZP5	DUS27_HUMAN			6	1566	+			467					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1400G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155451	0.38021	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.02	4.1	0.47936	.	0.086313	0.49305	D	0.000150	T	0.02649	0.0080	M	0.67953	2.075	0.30396	N	0.780517	B	0.19817	0.039	B	0.12156	0.007	T	0.12268	-1.0554	10	0.87932	D	0	-16.6929	13.7869	0.63115	0.076:0.0:0.924:0.0	.	467	Q5VZP5	DUS27_HUMAN	H	467	ENSP00000354483:R467H;ENSP00000271385:R467H;ENSP00000404874:R467H	ENSP00000271385:R467H	R	+	2	0	DUSP27	165362392	0.650000	0.27331	0.790000	0.31976	0.263000	0.26337	2.340000	0.43974	2.291000	0.77112	0.643000	0.83706	CGC		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		3	33	0	0	0	1	0	3	33				
PXDNL	137902	broad.mit.edu	37	8	52359718	52359718	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:52359718C>A	ENST00000356297.4	-	12	1471	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	PXDNL_ENST00000543296.1_Silent_p.G457G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	457	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCTGCCCTCCTGCAA	0.517																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1369-1371)ggG>ggT		peroxidasin homolog (Drosophila)-like							93.0	92.0	92.0					8																	52359718		2027	4187	6214	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359718C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1371G>T	8.37:g.52359718C>A						PXDNL_ENST00000543296.1_Silent_p.G457G	p.G457G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1471	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	457			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1371G>T	CCDS47855.1																																																																																				0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	111	1	0	0.00198382	1	0.00214667	6	111				
QKI	9444	broad.mit.edu	37	6	163899929	163899929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:163899929G>T	ENST00000361752.3	+	3	953		c.e3+1		QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000392127.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAAAAAAAAGGTAAGTCCTTG	0.348																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.e3+1		QKI, KH domain containing, RNA binding							77.0	78.0	77.0					6																	163899929		2203	4300	6503	SO:0001630	splice_region_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899929G>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.402+1G>T	6.37:g.163899929G>T						QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site		NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	953	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)						Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	SNP	ENST00000361752.3	37		CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592580	0.86953	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2968	0.94126	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	QKI	163819919	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.390000	0.97246	2.561000	0.86390	0.591000	0.81541	.		0.348	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	Intron	9	42	1	0	0.00829132	1	0.00884001	9	42				
CPXM1	56265	broad.mit.edu	37	20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T	rs372944936		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1984-1986)cGt>cAt		carboxypeptidase X (M14 family), member 1			HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	55.0	55.0		1763,1985	5.1	1.0	20		55	0,8600		0,0,4300	no	missense,missense	CPXM1	NM_001184699.1,NM_019609.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	588/661,662/735	2775056	1,13005	2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775056C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1985G>A	20.37:g.2775056C>T	ENSP00000369979:p.Arg662His						p.R662H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2049	-			662					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1985G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156125	0.94686	2.27E-4	0.0	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.42513	0.97	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	H	0.96489	3.83	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.83349	-0.0004	10	0.87932	D	0	-24.3659	16.4323	0.83853	0.0:1.0:0.0:0.0	.	662	Q96SM3	CPXM1_HUMAN	H	662;358	ENSP00000369979:R662H	ENSP00000369979:R662H	R	-	2	0	CPXM1	2723056	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.560000	0.82277	2.821000	0.97095	0.651000	0.88453	CGT		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		9	43	0	0	0	1	0	9	43				
LHX2	9355	broad.mit.edu	37	9	126783459	126783459	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:126783459G>A	ENST00000373615.4	+	4	1548	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	270					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCGCATGCGCACGTCCTTC	0.572																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(808-810)cGc>cAc		LIM homeobox 2							121.0	102.0	108.0					9																	126783459		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126783459G>A	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.809G>A	9.37:g.126783459G>A	ENSP00000362717:p.Arg270His						p.R270H	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			4	1548	+			270					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.809G>A	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314707	0.95655	.	.	ENSG00000106689	ENST00000373615	D	0.99167	-5.51	5.39	5.39	0.77823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98145	1.0438	10	0.87932	D	0	.	18.1159	0.89555	0.0:0.0:1.0:0.0	.	270;270	B3KNJ5;P50458	.;LHX2_HUMAN	H	270	ENSP00000362717:R270H	ENSP00000362717:R270H	R	+	2	0	LHX2	125823280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.511000	0.84671	0.561000	0.74099	CGC		0.572	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			7	92	0	0	0	1	0	7	92				
IGLV7-46	28775	broad.mit.edu	37	22	22724333	22724333	+	RNA	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:22724333T>C	ENST00000390295.2	+	0	263									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		CAACAAACACTCCTGGACACC	0.562																																						ENST00000390295.2																			0																				47.0	49.0	48.0					22																	22724333		1889	4110	5999			0							g.chr22:22724333T>C	Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724333T>C														0	263	+									RNA	SNP	ENST00000390295.2	37																																																																																						0.562	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002		5	29	0	0	0	1	0	5	29				
GRIA2	2891	broad.mit.edu	37	4	158257856	158257856	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:158257856T>A	ENST00000264426.9	+	11	2080	c.1801T>A	c.(1801-1803)Tcc>Acc	p.S601T	GRIA2_ENST00000296526.7_Missense_Mutation_p.S601T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTCTGGTTTTCCTTGGGTGC	0.428																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1801-1803)Tcc>Acc		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						132.0	135.0	134.0					4																	158257856		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257856T>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1801T>A	4.37:g.158257856T>A	ENSP00000264426:p.Ser601Thr					GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S601T	p.S601T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2126	+	all_hematologic(180;0.24)	Renal(120;0.0458)	601					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1801T>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314496	0.81358	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.12527	0.23	0.80722	D	1	D;D;D	0.71674	0.96;0.998;0.985	P;D;D	0.83275	0.747;0.996;0.977	T	0.26573	-1.0099	10	0.39692	T	0.17	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	601;601;554	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	T	554;554;601;601;554	ENSP00000426845:S554T;ENSP00000377403:S554T;ENSP00000296526:S601T;ENSP00000264426:S601T;ENSP00000389837:S554T	ENSP00000264426:S601T	S	+	1	0	GRIA2	158477306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	TCC		0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			22	137	0	0	0	1	0	22	137				
AHNAK2	113146	broad.mit.edu	37	14	105418650	105418650	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105418650G>A	ENST00000333244.5	-	7	3257	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1046						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3136-3138)ctC>ctT		AHNAK nucleoprotein 2							110.0	122.0	118.0					14																	105418650		1991	4149	6140	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418650G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3138C>T	14.37:g.105418650G>A						AHNAK2_ENST00000557457.1_Intron	p.L1046L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3257	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1046					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3138C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	181	0	0	0	1	0	36	181				
PTPRS	5802	broad.mit.edu	37	19	5214707	5214707	+	Silent	SNP	G	G	A	rs144200009	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:5214707G>A	ENST00000587303.1	-	28	4458	c.4359C>T	c.(4357-4359)gaC>gaT	p.D1453D	PTPRS_ENST00000588012.1_Silent_p.D1415D|PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000592099.1_Silent_p.D1006D|PTPRS_ENST00000372412.4_Silent_p.D1454D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1453	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ACCGGTAGCCGTCCACGTAGT	0.612													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		20792	0.001		0.0	False		,,,				2504	0.0					ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4360-4362)gaC>gaT		protein tyrosine phosphatase, receptor type, S		G	,,,	7,4397	12.9+/-30.5	0,7,2195	54.0	41.0	45.0		4359,3018,4245,3030	-3.0	1.0	19	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,8,6494	AA,AG,GG		0.0116,0.1589,0.0615	,,,	1453/1949,1006/1502,1415/1911,1010/1506	5214707	8,12996	2202	4300	6502	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5214707G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4359C>T	19.37:g.5214707G>A						PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000588012.1_Silent_p.D1415D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.D1453D|PTPRS_ENST00000592099.1_Silent_p.D1006D	p.D1454D			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	29	4595	-			1453			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.4362C>T	CCDS45930.1																																																																																				0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	34	0	0	0	1	0	3	34				
MAP1S	55201	broad.mit.edu	37	19	17835965	17835965	+	Silent	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:17835965T>G	ENST00000324096.4	+	4	562	c.411T>G	c.(409-411)ccT>ccG	p.P137P	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.P111P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	137	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCTTCTCGCCTCACCACTTCC	0.607																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(409-411)ccT>ccG		microtubule-associated protein 1S							84.0	76.0	79.0					19																	17835965		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835965T>G	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.411T>G	19.37:g.17835965T>G						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P111P	p.P137P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			4	562	+			137			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.411T>G	CCDS32954.1																																																																																				0.607	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		5	121	0	0	0	1	0	5	121				
ZNF225	7768	broad.mit.edu	37	19	44636284	44636284	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:44636284A>G	ENST00000262894.6	+	5	1797	c.1517A>G	c.(1516-1518)cAc>cGc	p.H506R	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTAGAGTCCACAGTGGAGAA	0.378																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1516-1518)cAc>cGc		zinc finger protein 225							72.0	80.0	77.0					19																	44636284		2188	4291	6479	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636284A>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1517A>G	19.37:g.44636284A>G	ENSP00000262894:p.His506Arg					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R	p.H506R	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1797	+		Prostate(69;0.0352)|all_neural(266;0.202)	506					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1517A>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914476	0.72983	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.67523	-0.27	2.65	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83820	0.5337	H	0.94658	3.565	0.26769	N	0.969838	D	0.71674	0.998	D	0.83275	0.996	T	0.72077	-0.4399	9	0.72032	D	0.01	.	7.055	0.25093	0.797:0.0:0.0:0.203	.	506	Q9UK10	ZN225_HUMAN	R	506;470	ENSP00000262894:H506R	ENSP00000262894:H506R	H	+	2	0	ZNF225	49328124	0.568000	0.26635	0.026000	0.17262	0.961000	0.63080	3.264000	0.51553	0.220000	0.20860	-0.496000	0.04628	CAC		0.378	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			13	98	0	0	0	1	0	13	98				
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1375-1377)Gcc>Acc		pleckstrin and Sec7 domain containing							36.0	44.0	42.0					10																	104173704		2203	4298	6501	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173704C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1375G>A	10.37:g.104173704C>T	ENSP00000020673:p.Ala459Thr					PSD_ENST00000406432.1_Missense_Mutation_p.A459T	p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1901	-			459			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1375G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			12	141	0	0	0	1	0	12	141				
GOLIM4	27333	broad.mit.edu	37	3	167747660	167747660	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:167747660C>G	ENST00000470487.1	-	10	2030	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	447	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gctgctgttcctgctgccgta	0.647																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1339-1341)caG>caC		golgi integral membrane protein 4							41.0	39.0	40.0					3																	167747660		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747660C>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1341G>C	3.37:g.167747660C>G	ENSP00000417354:p.Gln447His					GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	p.Q447H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2030	-			447			Gln-rich.|Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1341G>C	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371699	0.24857	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.23	4.35	0.52113	.	0.369693	0.31246	N	0.007981	T	0.47002	0.1422	L	0.39397	1.21	0.37543	D	0.918402	B;B	0.16802	0.019;0.019	B;B	0.15870	0.014;0.014	T	0.49523	-0.8931	9	0.49607	T	0.09	-2.9875	10.0583	0.42259	0.0:0.7722:0.1495:0.0783	.	419;447	F8W785;O00461	.;GOLI4_HUMAN	H	447;419	.	ENSP00000309893:Q419H	Q	-	3	2	GOLIM4	169230354	0.449000	0.25689	0.996000	0.52242	0.244000	0.25665	-0.273000	0.08548	1.226000	0.43582	0.555000	0.69702	CAG		0.647	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			19	92	0	0	0	1	0	19	92				
PANK3	79646	broad.mit.edu	37	5	167995897	167995897	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:167995897T>A	ENST00000239231.6	-	2	451	c.135A>T	c.(133-135)ttA>ttT	p.L45F	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	45					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GAATACTTTTTAAACTCTCAA	0.413																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(133-135)ttA>ttT		pantothenate kinase 3							119.0	113.0	115.0					5																	167995897		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995897T>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.135A>T	5.37:g.167995897T>A	ENSP00000239231:p.Leu45Phe						p.L45F	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	451	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	45					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.135A>T	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634858	0.47049	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99574	-6.2;-6.2	5.6	3.25	0.37280	.	0.064020	0.64402	D	0.000005	D	0.98529	0.9509	M	0.68593	2.085	0.52501	D	0.999957	B	0.32010	0.351	B	0.36030	0.216	D	0.97073	0.9779	10	0.27082	T	0.32	-7.8125	7.0523	0.25079	0.0:0.3478:0.0:0.6521	.	45	Q9H999	PANK3_HUMAN	F	45;30	ENSP00000239231:L45F;ENSP00000428631:L30F	ENSP00000239231:L45F	L	-	3	2	PANK3	167928475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.662000	0.25038	0.425000	0.26087	0.482000	0.46254	TTA		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		8	115	0	0	0	1	0	8	115				
ACACB	32	broad.mit.edu	37	12	109577338	109577338	+	Missense_Mutation	SNP	C	C	A	rs142445607	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:109577338C>A	ENST00000338432.7	+	2	247	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	43					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACCTCATCCCGAGCCAGGAG	0.542																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(127-129)cCg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						79.0	83.0	81.0					12																	109577338		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577338C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.128C>A	12.37:g.109577338C>A	ENSP00000341044:p.Pro43Gln					ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q	p.P43Q			O00763	ACACB_HUMAN			2	247	+			43					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.128C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495718	0.12762	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	D;D;D	0.95238	-3.65;-3.65;-3.63	5.75	-7.52	0.01341	.	1.092010	0.07094	N	0.839329	D	0.87386	0.6164	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73404	-0.3993	10	0.52906	T	0.07	.	2.0655	0.03601	0.2471:0.3505:0.0797:0.3227	.	43	O00763	ACACB_HUMAN	Q	43;18;43;43	ENSP00000341044:P43Q;ENSP00000367079:P43Q;ENSP00000367085:P43Q	ENSP00000341044:P43Q	P	+	2	0	ACACB	108061721	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.676000	0.01946	-1.607000	0.01589	-3.375000	0.00041	CCG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		5	142	1	0	0.000602214	1	0.00065655	5	142				
SLC10A2	6555	broad.mit.edu	37	13	103701641	103701641	+	Missense_Mutation	SNP	C	C	A	rs561797796		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:103701641C>A	ENST00000245312.3	-	5	1513	c.917G>T	c.(916-918)gGa>gTa	p.G306V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	306					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TTCCTTACATCCTAAGAATAT	0.428																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(916-918)gGa>gTa		solute carrier family 10 (sodium/bile acid cotransporter), member 2							156.0	138.0	144.0					13																	103701641		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701641C>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.917G>T	13.37:g.103701641C>A	ENSP00000245312:p.Gly306Val						p.G306V	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			5	1513	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		306					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.917G>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.895093	0.17613	.	.	ENSG00000125255	ENST00000245312	T	0.07688	3.17	5.42	0.394	0.16299	.	0.458062	0.25014	N	0.033815	T	0.07954	0.0199	L	0.38953	1.18	0.24078	N	0.99596	B	0.10296	0.003	B	0.14578	0.011	T	0.30208	-0.9986	10	0.21540	T	0.41	-7.3083	17.1503	0.86776	0.1016:0.2683:0.6301:0.0	.	306	Q12908	NTCP2_HUMAN	V	306	ENSP00000245312:G306V	ENSP00000245312:G306V	G	-	2	0	SLC10A2	102499642	0.998000	0.40836	0.000000	0.03702	0.042000	0.13812	1.056000	0.30480	-0.184000	0.10567	-0.175000	0.13238	GGA		0.428	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			20	87	1	0	3.51602e-12	1	4.32053e-12	20	87				
SLC4A1	6521	broad.mit.edu	37	17	42333044	42333044	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:42333044G>T	ENST00000262418.6	-	14	1952	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	599	Involved in anion transport.|Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCTGACCTTGCCAGGGAAAT	0.577																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1795-1797)ggC>ggA		solute carrier family 4 (anion exchanger), member 1							105.0	92.0	96.0					17																	42333044		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333044G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1797C>A	17.37:g.42333044G>T							p.G599G	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1952	-		Breast(137;0.014)|Prostate(33;0.0181)	599			Involved in anion transport.|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1797C>A	CCDS11481.1																																																																																				0.577	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		8	62	1	0	3.09899e-07	1	3.59482e-07	8	62				
GPR156	165829	broad.mit.edu	37	3	119962486	119962486	+	Splice_Site	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:119962486C>T	ENST00000464295.1	-	3	679		c.e3+1		GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTGCTTACCTGTTCTTCC	0.433																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.e3+1		G protein-coupled receptor 156							113.0	102.0	106.0					3																	119962486		2203	4300	6503	SO:0001630	splice_region_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962486C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.233+1G>A	3.37:g.119962486C>T						GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site				Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	679	-								B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Splice_Site	SNP	ENST00000464295.1	37		CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583330	0.65992	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1778	0.65555	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR156	121445176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.539000	0.60657	2.719000	0.93026	0.650000	0.86243	.		0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	Intron	56	79	0	0	0	1	0	56	79				
ANO4	121601	broad.mit.edu	37	12	101505340	101505340	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:101505340G>A	ENST00000392977.3	+	24	2512		c.e24-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATTTGAATAGGAATTTGGTA	0.333										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.e23-1		anoctamin 4							112.0	111.0	111.0					12																	101505340		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101505340G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2303-1G>A	12.37:g.101505340G>A		HNSCC(74;0.22)				ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site		NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			23	2558	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37			.	.	.	.	.	.	.	.	.	.	G	24.0	4.479156	0.84747	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6276	0.95684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	100029471	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.714000	0.98744	2.652000	0.90054	0.655000	0.94253	.		0.333	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Intron	17	36	0	0	0	1	0	17	36				
CEP76	79959	broad.mit.edu	37	18	12673405	12673405	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:12673405C>A	ENST00000262127.2	-	12	2164	c.1939G>T	c.(1939-1941)Gtt>Ttt	p.V647F	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|RP11-973H7.3_ENST00000585877.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.V572F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	647					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATCCAAACAGCACATGCA	0.378																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1939-1941)Gtt>Ttt		centrosomal protein 76kDa							125.0	127.0	127.0					18																	12673405		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12673405C>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1939G>T	18.37:g.12673405C>A	ENSP00000262127:p.Val647Phe					CEP76_ENST00000423709.2_Missense_Mutation_p.V572F|RP11-973H7.2_ENST00000585331.1_RNA	p.V647F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			12	2164	-			647					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1939G>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167858	0.94768	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;D	0.85258	-1.96;-1.87	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.977	D	0.92893	0.6333	10	0.87932	D	0	-13.8387	20.0401	0.97581	0.0:1.0:0.0:0.0	.	572;647	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	F	647;572	ENSP00000262127:V647F;ENSP00000403074:V572F	ENSP00000262127:V647F	V	-	1	0	CEP76	12663405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.030000	0.70903	2.805000	0.96524	0.655000	0.94253	GTT		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		20	95	1	0	1.87028e-06	1	2.13536e-06	20	95				
MDGA2	161357	broad.mit.edu	37	14	47426763	47426763	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:47426763C>G	ENST00000399232.2	-	9	2060	c.1696G>C	c.(1696-1698)Gcc>Ccc	p.A566P	SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P|MDGA2_ENST00000426342.1_Missense_Mutation_p.A337P|MDGA2_ENST00000439988.3_Missense_Mutation_p.A635P	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	566	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTGGATAGGCTCTCAGTACT	0.473																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1009-1011)Gcc>Ccc		MAM domain containing glycosylphosphatidylinositol anchor 2							97.0	96.0	96.0					14																	47426763		1973	4172	6145	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426763C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1696G>C	14.37:g.47426763C>G	ENSP00000382178:p.Ala566Pro					MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P|MDGA2_ENST00000399232.2_Missense_Mutation_p.A635P|MDGA2_ENST00000439988.2_Missense_Mutation_p.A566P	p.A337P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1755	-			566					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1009G>C		.	.	.	.	.	.	.	.	.	.	C	28.9	4.960290	0.92791	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.32	5.32	0.75619	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000101	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	D;D	0.55172	0.97;0.958	P;D	0.65010	0.849;0.931	T	0.00733	-1.1589	10	0.40728	T	0.16	.	17.5607	0.87906	0.0:1.0:0.0:0.0	.	337;566	F6W3S7;Q7Z553	.;MDGA2_HUMAN	P	566;337;635;337	ENSP00000400011:A566P;ENSP00000405456:A337P;ENSP00000382178:A635P;ENSP00000349925:A337P	ENSP00000349925:A337P	A	-	1	0	MDGA2	46496513	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.180000	0.77674	2.488000	0.83962	0.650000	0.86243	GCC		0.473	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		20	73	0	0	0	1	0	20	73				
COL1A1	1277	broad.mit.edu	37	17	48263140	48263140	+	Splice_Site	SNP	G	G	A	rs398122835		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48263140G>A	ENST00000225964.5	-	50	4365	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1416	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGCACTCACCGTGCAGCCATC	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.e50+1		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						45.0	44.0	44.0					17																	48263140		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263140G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4248+1C>T	17.37:g.48263140G>A							p.T1416_splice	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			50	4365	-			1416			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.4248_splice	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490525	0.44249	.	.	ENSG00000108821	ENST00000225964	T	0.73897	-0.79	4.34	4.34	0.51931	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	P	0.54590	0.756	D	0.87162	0.2215	10	0.87932	D	0	.	15.7598	0.78070	0.0:0.0:1.0:0.0	.	1416	P02452	CO1A1_HUMAN	M	1416	ENSP00000225964:T1416M	ENSP00000225964:T1416M	T	-	2	0	COL1A1	45618139	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.534000	0.98061	2.246000	0.74042	0.313000	0.20887	ACG		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		Missense_Mutation	11	59	0	0	0	1	0	11	59				
PPIP5K2	23262	broad.mit.edu	37	5	102484976	102484976	+	Nonsense_Mutation	SNP	C	C	T	rs369390587		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:102484976C>T	ENST00000358359.3	+	8	1374	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Nonsense_Mutation_p.R289*	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	289					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAATGCACGAGAGAAATT	0.378																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(865-867)Cga>Tga		diphosphoinositol pentakisphosphate kinase 2		C	stop/ARG	0,4406		0,0,2203	108.0	109.0	108.0		865	1.8	1.0	5		108	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PPIP5K2	NM_015216.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/1223	102484976	1,13005	2203	4300	6503	SO:0001587	stop_gained	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102484976C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.865C>T	5.37:g.102484976C>T	ENSP00000351126:p.Arg289*					PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.R289*	p.R289*			O43314	VIP2_HUMAN			8	1438	+			289					A1NI53|A6NGS8|Q8TB50	Nonsense_Mutation	SNP	ENST00000358359.3	37	c.865C>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.722853	0.89298	0.0	1.16E-4	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	.	.	.	5.2	1.84	0.25277	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.1725	0.25726	0.5532:0.3571:0.0:0.0898	.	.	.	.	X	289;211;289;289;289	.	ENSP00000313070:R289X	R	+	1	2	PPIP5K2	102512875	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.453000	0.44970	0.651000	0.30788	0.655000	0.94253	CGA		0.378	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		12	58	0	0	0	1	0	12	58				
CACNG7	59284	broad.mit.edu	37	19	54417821	54417821	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:54417821A>C	ENST00000391767.1	+	3	476	c.264A>C	c.(262-264)gaA>gaC	p.E88D	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	88					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTGACGGAAAACACGGAGA	0.547																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(262-264)gaA>gaC		calcium channel, voltage-dependent, gamma subunit 7							73.0	65.0	68.0					19																	54417821		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54417821A>C	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.264A>C	19.37:g.54417821A>C	ENSP00000375647:p.Glu88Asp					CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D	p.E88D			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	476	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		88					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.264A>C	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	A	2.167	-0.390698	0.04932	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.74947	0.08;0.08;-0.89	2.84	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.12663	0.25	0.48087	D	0.999588	B	0.33883	0.43	B	0.42386	0.386	T	0.50432	-0.8829	10	0.02654	T	1	-5.8962	6.064	0.19854	0.8664:0.0:0.1336:0.0	.	88	P62955	CCG7_HUMAN	D	88	ENSP00000375647:E88D;ENSP00000222212:E88D;ENSP00000375646:E88D	ENSP00000222212:E88D	E	+	3	2	CACNG7	59109633	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.368000	0.20399	0.522000	0.28464	0.459000	0.35465	GAA		0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			9	59	0	0	0	1	0	9	59				
TERF2IP	54386	broad.mit.edu	37	16	75690150	75690150	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:75690150G>A	ENST00000300086.4	+	3	938	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	281	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AACTATGTGTGATGATGATCC	0.433																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(841-843)Gat>Aat		telomeric repeat binding factor 2, interacting protein							90.0	92.0	91.0					16																	75690150		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690150G>A	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.841G>A	16.37:g.75690150G>A	ENSP00000300086:p.Asp281Asn						p.D281N	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	938	+			281			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.841G>A	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347609	0.61183	.	.	ENSG00000166848	ENST00000300086	T	0.47528	0.84	5.02	4.06	0.47325	.	0.300687	0.34986	N	0.003528	T	0.24624	0.0597	N	0.08118	0	0.34334	D	0.688002	B	0.21452	0.056	B	0.19148	0.024	T	0.24225	-1.0166	10	0.17832	T	0.49	-23.4016	10.949	0.47317	0.0914:0.0:0.9086:0.0	.	281	Q9NYB0	TE2IP_HUMAN	N	281	ENSP00000300086:D281N	ENSP00000300086:D281N	D	+	1	0	TERF2IP	74247651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.731000	0.38135	2.760000	0.94817	0.591000	0.81541	GAT		0.433	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		34	55	0	0	0	1	0	34	55				
AHNAK2	113146	broad.mit.edu	37	14	105409473	105409473	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105409473G>T	ENST00000333244.5	-	7	12434	c.12315C>A	c.(12313-12315)gcC>gcA	p.A4105A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4105						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGCTCTCGGGGCCTGGACGT	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12313-12315)gcC>gcA		AHNAK nucleoprotein 2							185.0	193.0	191.0					14																	105409473		1955	4141	6096	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409473G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12315C>A	14.37:g.105409473G>T						AHNAK2_ENST00000557457.1_Intron	p.A4105A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12434	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4105					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12315C>A	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		147	233	1	0	1.33848e-58	1	1.68764e-58	147	233				
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175584494delT																													2.37:g.175584494delT			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.532	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1363509	1363510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:1363509_1363510insT	ENST00000446702.2	+	8	1564_1565	c.937_938insT	c.(937-939)attfs	p.I313fs	CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I313fs|CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.I241fs			Q9UQ52	CNTN6_HUMAN	contactin 6	313					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGTCAACTCATTTTTTATGGT	0.351																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(937-939)tttfs		contactin 6																																				SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363509_1363510insT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.943dupT	3.37:g.1363515_1363515dupT	ENSP00000407822:p.Ile313fs					CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F313fs|CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.F241fs	p.F313fs			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1564_1565	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	313					Q2KHM2	Frame_Shift_Ins	INS	ENST00000446702.2	37	c.937_938insT	CCDS2557.1																																																																																				0.351	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		34	80						34	80	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4808388	4808388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:4808388delA	ENST00000443694.2	+	42	5674	c.5674delA	c.(5674-5676)aaafs	p.K1893fs	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1908					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCATCACGGAAAAAAGGTAA	0.428																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5674-5676)aafs		inositol 1,4,5-trisphosphate receptor, type 1							63.0	61.0	61.0					3																	4808388		1928	4126	6054	SO:0001589	frameshift_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4808388delA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5674delA	3.37:g.4808388delA	ENSP00000401671:p.Lys1893fs					ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.K1893fs	p.K1893fs	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	44	6024	+			1908					E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	ENST00000443694.2	37	c.5674delA	CCDS54551.1																																																																																				0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	35						7	35	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898787	175898788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:175898787_175898788insA	ENST00000359240.3	+	5	2781_2782	c.2111_2112insA	c.(2110-2115)ataaaafs	p.IK704fs	ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.IK704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.IK704fs|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.IK704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	704					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTAAACCAATAAAAAAGCAGC	0.342																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2110-2112)aaafs		ADAM metallopeptidase domain 29																																				SO:0001589	frameshift_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898787_175898788insA	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2117dupA	4.37:g.175898793_175898793dupA	ENSP00000352177:p.Ile704fs					ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K704fs|RP13-577H12.2_ENST00000507525.1_RNA	p.K704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2781_2782	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	704					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Ins	INS	ENST00000359240.3	37	c.2111_2112insA	CCDS3823.1																																																																																				0.342	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				8	53						8	53	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7190821	7190825	+	lincRNA	DEL	CCATA	CCATA	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:7190821_7190825delCCATA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		TGACATGCAGCCATACATGTCTCAG	0.498																																						ENST00000606573.1																			0																																																			0							g.chr8:7190821_7190825delCCATA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7190821_7190825delCCATA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.498	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		8	13						8	13	---	---	---	---
TSTD2	158427	broad.mit.edu	37	9	100389704	100389705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:100389704_100389705insT	ENST00000341170.4	-	2	522_523	c.140_141insA	c.(139-141)aagfs	p.K47fs	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	47										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ACGAGTATTTCTTTTTTGTACT	0.342																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(139-141)aaafs		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2																																				SO:0001589	frameshift_variant	158427							g.chr9:100389704_100389705insT	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.141dupA	9.37:g.100389710_100389710dupT	ENSP00000342499:p.Lys47fs					TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.K47fs	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			2	522_523	-			47					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Frame_Shift_Ins	INS	ENST00000341170.4	37	c.140_141insA	CCDS6727.2																																																																																				0.342	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		23	70						23	70	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113920533	113920534	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:113920533_113920534insA	ENST00000348367.4	-	16	1784_1785	c.1587_1588insT	c.(1585-1590)tcagaafs	p.E530fs	GPAM_ENST00000423155.1_Frame_Shift_Ins_p.E530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.E530fs			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	530					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTACATCTTCTGAATTTCCTG	0.446																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1585-1590)tcaagafs		glycerol-3-phosphate acyltransferase, mitochondrial																																				SO:0001589	frameshift_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920533_113920534insA	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1587_1588insT	10.37:g.113920533_113920534insA	ENSP00000265276:p.Glu530fs					GPAM_ENST00000423155.1_Frame_Shift_Ins_p.R530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.R530fs	p.R530fs			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	16	1784_1785	-			530					Q5VW51|Q86TA3	Frame_Shift_Ins	INS	ENST00000348367.4	37	c.1587_1588insT	CCDS7570.1																																																																																				0.446	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		18	45						18	45	---	---	---	---
ZDHHC24	254359	broad.mit.edu	37	11	66307206	66307206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:66307206delG	ENST00000310442.3	-	3	883	c.649delC	c.(649-651)catfs	p.H217fs	ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	217	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGCATCCCATGGAAGAGCAGC	0.652																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(649-651)atfs		zinc finger, DHHC-type containing 24							27.0	30.0	29.0					11																	66307206		2198	4293	6491	SO:0001589	frameshift_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307206delG	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.649delC	11.37:g.66307206delG	ENSP00000309429:p.His217fs					ZDHHC24_ENST00000526986.1_Intron	p.H217fs	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	883	-			217			Leu-rich.		Q6PEW7|Q9BSJ0	Frame_Shift_Del	DEL	ENST00000310442.3	37	c.649delC	CCDS8143.1																																																																																				0.652	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		12	26						12	26	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	8						7	8	---	---	---	---
CRIP1	1396	broad.mit.edu	37	14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105954583delG	ENST00000330233.7	+	2	1064	c.121delG	c.(121-123)gggfs	p.G42fs	CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank|C14orf80_ENST00000329886.7_5'Flank|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	42	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652																																						ENST00000330233.7																			0											c.(121-123)ggfs		cysteine-rich protein 1 (intestinal)							54.0	63.0	60.0					14																	105954583		2203	4300	6503	SO:0001589	frameshift_variant	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954583delG		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.121delG	14.37:g.105954583delG	ENSP00000332449:p.Gly42fs					CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs	p.G42fs			P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	2	1064	+		Melanoma(154;0.226)	42			LIM zinc-binding.		H3BPI2|Q13628|Q53XY7|Q96J34	Frame_Shift_Del	DEL	ENST00000330233.7	37	c.121delG	CCDS10004.1																																																																																				0.652	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		10	94						10	94	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	4						4	4	---	---	---	---
RPL19	6143	broad.mit.edu	37	17	37357515	37357517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37357515_37357517delAAG	ENST00000225430.4	+	2	117_119	c.55_57delAAG	c.(55-57)aagdel	p.K21del	RPL19_ENST00000582193.1_In_Frame_Del_p.K19del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000579260.1_In_Frame_Del_p.K19del	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CCGCTGTGGCAAGAAGAAGGTCT	0.493																																						ENST00000579260.1																			0				kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(49-51)del		ribosomal protein L19																																				SO:0001651	inframe_deletion	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37357515_37357517delAAG		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.55_57delAAG	17.37:g.37357521_37357523delAAG	ENSP00000225430:p.Lys21del					RPL19_ENST00000225430.4_In_Frame_Del_p.K21del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000582193.1_In_Frame_Del_p.K19del	p.K19del			P84098	RL19_HUMAN			2	452_454	+			21					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	In_Frame_Del	DEL	ENST00000225430.4	37	c.49_51delAAG	CCDS42312.1																																																																																				0.493	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		18	127						18	127	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627847	37627860	+	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	ACTCACTCAAAGAC	-	rs373485018		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37627847_37627860delACTCACTCAAAGAC	ENST00000447079.4	+	2	1795_1808	c.1762_1775delACTCACTCAAAGAC	c.(1762-1776)actcactcaaagacafs	p.THSKT588fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	588					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG	0.491			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1762-1776)afs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627847_37627860delACTCACTCAAAGAC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1762_1775delACTCACTCAAAGAC	17.37:g.37627847_37627860delACTCACTCAAAGAC	ENSP00000398880:p.Thr588fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1795_1808	+			588					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.1762_1775delACTCACTCAAAGAC	CCDS11337.1																																																																																				0.491	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		78	170						78	170	---	---	---	---
SON	6651	broad.mit.edu	37	21	34922689	34922689	+	Frame_Shift_Del	DEL	G	G	-	rs551886377		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34922689delG	ENST00000356577.4	+	3	1627	c.1152delG	c.(1150-1152)ccgfs	p.P384fs	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs|SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	384					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTTGCCGGGGCCACCTG	0.642																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1150-1152)ccfs		SON DNA binding protein																																				SO:0001589	frameshift_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922689delG	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1152delG	21.37:g.34922689delG	ENSP00000348984:p.Pro384fs					SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs	p.P384fs	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	1627	+			384					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Del	DEL	ENST00000356577.4	37	c.1152delG	CCDS13629.1																																																																																				0.642	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		24	103						24	103	---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:23742494_23742495insG	ENST00000255890.4	-	0	714_715									zinc finger, DHHC-type containing 8 pseudogene 1																		GGGCAGTGCATGGGGGGGCAAA	0.663																																						ENST00000255890.4																			0																																																			0							g.chr22:23742494_23742495insG			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742501_23742501dupG														0	714_715	-									RNA	INS	ENST00000255890.4	37																																																																																						0.663	ZDHHC8P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319397.1	NR_003950		7	22						7	22	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37480809	37480809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:37480809delG	ENST00000346753.3	-	9	1187	c.1071delC	c.(1069-1071)cccfs	p.P357fs	TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.P348fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	357	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGTAGTAGCTGGGGAAGTACG	0.637																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1042-1044)ccfs		transmembrane protease, serine 6							84.0	71.0	76.0					22																	37480809		2199	4290	6489	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37480809delG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1071delC	22.37:g.37480809delG	ENSP00000334962:p.Pro357fs					TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.P357fs	p.P348fs			Q8IU80	TMPS6_HUMAN			9	1184	-			357			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.1044delC	CCDS13941.1																																																																																				0.637	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		2	4						2	4	---	---	---	---
