#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DNAH5	1767	broad.mit.edu	37	5	13737517	13737517	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:13737517G>A	ENST00000265104.4	-	66	11403	c.11299C>T	c.(11299-11301)Cgc>Tgc	p.R3767C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCAGGCGGTAAAGCAAG	0.428									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)	p.R3767H(2)|p.R3767C(2)	endometrium(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11299-11301)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							187.0	170.0	176.0					5																	13737517		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737517G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11299C>T	5.37:g.13737517G>A	ENSP00000265104:p.Arg3767Cys		Somatic				DNAH5_uc003jfc.2_Intron	p.R3767C	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			65	11341	-	Lung NSC(4;0.00476)		3767			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11299C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469595	0.63625	.	.	ENSG00000039139	ENST00000265104	T	0.34072	1.38	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76860	-0.2803	10	0.87932	D	0	.	13.7836	0.63097	0.0:0.0:0.7209:0.2791	.	3767	Q8TE73	DYH5_HUMAN	C	3767	ENSP00000265104:R3767C	ENSP00000265104:R3767C	R	-	1	0	DNAH5	13790517	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	2.442000	0.44873	1.393000	0.46605	0.655000	0.94253	CGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	116	0	0	0	1	0	4	116				
POU4F3	5459	broad.mit.edu	37	5	145719616	145719616	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:145719616G>A	ENST00000230732.4	+	2	715	c.626G>A	c.(625-627)gGc>gAc	p.G209D	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	209	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGACGTGGGCGCGGCTCTG	0.637																																						uc003loa.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(625-627)gGc>gAc		Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.							40.0	44.0	42.0					5																	145719616		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719616G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.626G>A	5.37:g.145719616G>A	ENSP00000230732:p.Gly209Asp		Somatic					p.G209D	NM_002700	NP_002691	WXS	Illumina GAIIx	Phase_I	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	715	+			209			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.626G>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974711	0.74360	.	.	ENSG00000091010	ENST00000230732	D	0.87966	-2.32	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96106	0.9073	10	0.87932	D	0	.	16.1394	0.81513	0.0:0.0:1.0:0.0	.	209	Q15319	PO4F3_HUMAN	D	209	ENSP00000230732:G209D	ENSP00000230732:G209D	G	+	2	0	POU4F3	145699809	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.627000	0.98412	2.312000	0.78011	0.462000	0.41574	GGC		0.637	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		6	73	0	0	0	1	0	6	73				
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						uc001per.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		Homo sapiens pannexin 1 (PANX1), mRNA.							184.0	160.0	168.0					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn		Somatic				PANX1_uc001peq.3_Missense_Mutation_p.S247N	p.S247N	NM_015368	NP_056183	WXS	Illumina GAIIx	Phase_I	Q96RD7	PANX1_HUMAN			3	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		3	118	0	0	0	1	0	3	118				
TP53INP1	94241	broad.mit.edu	37	8	95952260	95952260	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:95952260G>A	ENST00000342697.4	-	3	708	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	101					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACATGGGGGTGGGGTGATA	0.463																																						uc003yhg.3																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(301-303)Ccc>Tcc		Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.							123.0	115.0	118.0					8																	95952260		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952260G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.301C>T	8.37:g.95952260G>A	ENSP00000344215:p.Pro101Ser		Somatic				TP53INP1_uc003yhh.3_Missense_Mutation_p.P101S	p.P101S	NM_033285	NP_150601	WXS	Illumina GAIIx	Phase_I	Q96A56	T53I1_HUMAN			2	685	-	Breast(36;8.75e-07)		101					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.301C>T	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548502	0.86127	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.79454	-1.27;-1.27;-1.27	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.873;1.0	P;D	0.91635	0.554;0.999	D	0.90117	0.4196	10	0.87932	D	0	-17.2002	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	101;101	Q96A56-2;Q96A56	.;T53I1_HUMAN	S	101	ENSP00000390063:P101S;ENSP00000344215:P101S;ENSP00000368052:P101S	ENSP00000344215:P101S	P	-	1	0	TP53INP1	96021436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.323000	0.96364	1.630000	0.50440	0.655000	0.94253	CCC		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	78	0	0	0	1	0	3	78				
DLG2	1740	broad.mit.edu	37	11	84028118	84028118	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:84028118G>A	ENST00000398301.2	-	1	264	c.71C>T	c.(70-72)gCg>gTg	p.A24V	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.A24V|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGGGTGGGCGCACTCCTGAC	0.592																																						uc021qof.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(70-72)gCg>gTg		Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 5, mRNA.							235.0	216.0	222.0					11																	84028118		876	1990	2866	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84028118G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.71C>T	11.37:g.84028118G>A	ENSP00000381346:p.Ala24Val		Somatic				DLG2_uc001paj.2_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.2_Missense_Mutation_p.A24V	p.A24V	NM_001206769	NP_001193698	WXS	Illumina GAIIx	Phase_I	Q15700	DLG2_HUMAN			0	265	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398301.2	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.524335	0.27299	.	.	ENSG00000150672	ENST00000280241;ENST00000398301	T;T	0.24151	2.42;1.87	5.72	3.63	0.41609	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.22940	N	0.998537	B	0.02656	0.0	B	0.04013	0.001	T	0.27739	-1.0065	8	.	.	.	.	4.4276	0.11511	0.2519:0.0:0.5723:0.1758	.	24	Q6ZSU2	.	V	24	ENSP00000280241:A24V;ENSP00000381346:A24V	.	A	-	2	0	DLG2	83705766	0.039000	0.19947	0.471000	0.27229	0.993000	0.82548	1.337000	0.33862	1.416000	0.47057	0.585000	0.79938	GCG		0.592	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		9	380	0	0	0	1	0	9	380				
CLCN5	1184	broad.mit.edu	37	X	49854982	49854982	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:49854982G>A	ENST00000307367.2	+	10	2035	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376088.3_Missense_Mutation_p.A652T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	582					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAAGACCCTGGCAATGGATGT	0.478																																						uc004dor.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1954-1956)Gca>Aca		Homo sapiens chloride channel 5 (CLCN5), transcript variant 1, mRNA.							117.0	94.0	101.0					X																	49854982		2203	4300	6503	SO:0001583	missense	1184				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity	g.chrX:49854982G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1744G>A	X.37:g.49854982G>A	ENSP00000304257:p.Ala582Thr		Somatic				CLCN5_uc004doq.1_Missense_Mutation_p.A652T|CLCN5_uc004dos.1_Missense_Mutation_p.A582T|CLCN5_uc004dot.1_Missense_Mutation_p.A582T	p.A652T	NM_001127899	NP_000075	WXS	Illumina GAIIx	Phase_I	P51795	CLCN5_HUMAN			12	2595	+	Ovarian(276;0.236)		582					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1954G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967432	0.92855	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.78	5.78	0.91487	.	0.047471	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	P;B	0.36282	0.546;0.043	B;B	0.37387	0.248;0.011	D	0.93351	0.6718	10	0.62326	D	0.03	-5.2567	17.6538	0.88172	0.0:0.0:1.0:0.0	.	582;652	P51795;P51795-2	CLCN5_HUMAN;.	T	652;484;652;582;582	ENSP00000365256:A652T;ENSP00000365259:A652T;ENSP00000365276:A582T;ENSP00000304257:A582T	ENSP00000304257:A582T	A	+	1	0	CLCN5	49741722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.441000	0.82636	0.594000	0.82650	GCA		0.478	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	60	0	0	0	1	0	20	60				
CCDC142	84865	broad.mit.edu	37	2	74709264	74709264	+	Missense_Mutation	SNP	C	C	T	rs145805017		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:74709264C>T	ENST00000393965.3	-	1	1097	c.701G>A	c.(700-702)cGt>cAt	p.R234H	TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	234										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCGGAGCACACGGGACGTGGG	0.662																																						uc002slr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(700-702)cGt>cAt		Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.		C	HIS/ARG	0,4402		0,0,2201	31.0	40.0	37.0		701	4.4	1.0	2	dbSNP_134	37	1,8597		0,1,4298	no	missense	CCDC142	NM_032779.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	234/744	74709264	1,12999	2201	4299	6500	SO:0001583	missense	84865							g.chr2:74709264C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.701G>A	2.37:g.74709264C>T	ENSP00000377537:p.Arg234His		Somatic				TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.R234H|CCDC142_uc002slp.2_Missense_Mutation_p.R234H	p.R234H	NM_032779	NP_116168	WXS	Illumina GAIIx	Phase_I	Q17RM4	CC142_HUMAN			0	1094	-			234					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070827	0.76301	0.0	1.16E-4	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.83755	-1.76;-1.76	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000078	D	0.88658	0.6496	M	0.72118	2.19	0.36289	D	0.856307	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63703	0.917;0.917;0.917	D	0.91794	0.5446	10	0.87932	D	0	-12.2002	12.6538	0.56776	0.0:1.0:0.0:0.0	.	234;234;234	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	H	234	ENSP00000377537:R234H;ENSP00000290418:R234H	ENSP00000290418:R234H	R	-	2	0	CCDC142	74562772	0.970000	0.33590	0.993000	0.49108	0.643000	0.38383	2.457000	0.45005	2.438000	0.82558	0.561000	0.74099	CGT		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		3	63	0	0	0	1	0	3	63				
AKAP8L	26993	broad.mit.edu	37	19	15514819	15514819	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:15514819G>A	ENST00000397410.5	-	3	252		c.e3+1		AKAP8L_ENST00000595465.2_Splice_Site|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGACACTTGCCTCTATTTG	0.498																																						uc002naw.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.e3+1		Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.							129.0	138.0	135.0					19																	15514819		2010	4180	6190	SO:0001630	splice_region_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514819G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.121+1C>T	19.37:g.15514819G>A			Somatic				AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.G41_splice|AKAP8L_uc002nay.1_Splice_Site_p.G41_splice|AKAP8L_uc002naz.3_5'Flank	p.G41_splice	NM_014371	NP_055186	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			3	220	-			41			Gly/Tyr-rich.		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Splice_Site	SNP	ENST00000397410.5	37	c.121_splice	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151452	0.57151	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.15	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1706	0.48569	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKAP8L	15375819	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.826000	0.27407	1.307000	0.44944	0.561000	0.74099	.		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	Intron	4	60	0	0	0	1	0	4	60				
TFAP2D	83741	broad.mit.edu	37	6	50683317	50683317	+	Missense_Mutation	SNP	C	C	A	rs573515296	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:50683317C>A	ENST00000008391.3	+	2	756	c.528C>A	c.(526-528)gaC>gaA	p.D176E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGAGCAGACGACTTGCAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		13466	0.0		0.0	False		,,,				2504	0.002					uc003paf.3																			0		p.A175S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(526-528)gaC>gaA		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							45.0	52.0	50.0					6																	50683317		2154	4216	6370	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683317C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.528C>A	6.37:g.50683317C>A	ENSP00000008391:p.Asp176Glu		Somatic				TFAP2D_uc011dwt.2_Non-coding_Transcript	p.D176E	NM_172238	NP_758438	WXS	Illumina GAIIx	Phase_I	Q7Z6R9	AP2D_HUMAN			1	1040	+	Lung NSC(77;0.0334)		176						Missense_Mutation	SNP	ENST00000008391.3	37	c.528C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519172	0.13005	.	.	ENSG00000008197	ENST00000008391	D	0.96967	-4.19	5.06	0.657	0.17850	.	0.423244	0.27231	N	0.020301	T	0.77391	0.4123	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.69591	-0.5104	10	0.02654	T	1	0.0059	10.3774	0.44090	0.3839:0.4922:0.1239:0.0	.	176	Q7Z6R9	AP2D_HUMAN	E	176	ENSP00000008391:D176E	ENSP00000008391:D176E	D	+	3	2	TFAP2D	50791276	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	0.461000	0.21940	0.184000	0.20083	0.655000	0.94253	GAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	104	0	0	0	1	0	6	104				
KHDRBS1	10657	broad.mit.edu	37	1	32498905	32498905	+	Silent	SNP	C	C	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:32498905C>A	ENST00000327300.7	+	4	908	c.741C>A	c.(739-741)gcC>gcA	p.A247A	KHDRBS1_ENST00000492989.1_Silent_p.A208A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCCATGCCATGGAGGAAG	0.448																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.3																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(739-741)gcC>gcA		Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.							120.0	115.0	117.0					1																	32498905		2203	4300	6503	SO:0001819	synonymous_variant	10657				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32498905C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.741C>A	1.37:g.32498905C>A			Somatic				KHDRBS1_uc001bua.1_Silent_p.A208A|KHDRBS1_uc001buc.1_Non-coding_Transcript	p.A247A	NM_006559	NP_006550	WXS	Illumina GAIIx	Phase_I	Q07666	KHDR1_HUMAN			3	847	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	247						Silent	SNP	ENST00000327300.7	37	c.741C>A	CCDS350.1																																																																																				0.448	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		3	65	0	0	0	1	0	3	65				
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	C	T	rs200320548		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000340023.6_Silent_p.I146I|FPR2_ENST00000598953.1_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478													c|||	1	0.000199681	0.0008	0.0	5008	,	,		22842	0.0		0.0	False		,,,				2504	0.0					uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(436-438)atC>atT		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							147.0	131.0	137.0					19																	52272349		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272349C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.438C>T	19.37:g.52272349C>T			Somatic				FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I	p.I146I	NM_001005738	NP_001453	WXS	Illumina GAIIx	Phase_I	P25090	FPR2_HUMAN			1	483	+			146					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.438C>T	CCDS12840.1																																																																																				0.478	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		16	90	0	0	0	1	0	16	90				
POMK	84197	broad.mit.edu	37	8	42977872	42977872	+	Missense_Mutation	SNP	T	T	C	rs199756983		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:42977872T>C	ENST00000331373.5	+	5	1160	c.905T>C	c.(904-906)gTc>gCc	p.V302A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										AGTGATATGGTCCGATTCCAT	0.478																																						uc003xpw.2																			0											c.(904-906)gTc>gCc		Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.							88.0	84.0	86.0					8																	42977872		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977872T>C		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.905T>C	8.37:g.42977872T>C	ENSP00000331258:p.Val302Ala		Somatic					p.V302A	NM_032237	NP_115613	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	1164	+			302			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.905T>C	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097274	0.76870	.	.	ENSG00000185900	ENST00000331373	T	0.23147	1.92	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059227	0.64402	D	0.000002	T	0.49098	0.1537	M	0.83012	2.62	0.53005	D	0.999967	D	0.69078	0.997	P	0.58970	0.849	T	0.54470	-0.8289	9	.	.	.	-11.0426	13.4612	0.61229	0.0:0.0:0.0:1.0	.	302	Q9H5K3	SG196_HUMAN	A	302	ENSP00000331258:V302A	.	V	+	2	0	AC113191.1	43097029	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	5.003000	0.63959	2.065000	0.61736	0.482000	0.46254	GTC		0.478	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		3	101	0	0	0	1	0	3	101				
ADSS	159	broad.mit.edu	37	1	244582071	244582071	+	Silent	SNP	C	C	T			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:244582071C>T	ENST00000366535.3	-	9	1252	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CATTGTCTTGCTCTGTAGGAA	0.338																																						uc001iaj.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(934-936)gaG>gaA		Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	L-Aspartic Acid(DB00128)						92.0	85.0	87.0					1																	244582071		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	g.chr1:244582071C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.936G>A	1.37:g.244582071C>T			Somatic					p.E312E	NM_001126	NP_001117	WXS	Illumina GAIIx	Phase_I	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		8	1253	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	312						Silent	SNP	ENST00000366535.3	37	c.936G>A	CCDS1624.1																																																																																				0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		4	67	0	0	0	1	0	4	67				
NWD1	284434	broad.mit.edu	37	19	16910932	16910932	+	Missense_Mutation	SNP	T	T	C	rs138963732		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:16910932T>C	ENST00000552788.1	+	15	3695	c.3695T>C	c.(3694-3696)aTt>aCt	p.I1232T	NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T|CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000524140.2_Missense_Mutation_p.I1232T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1232							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCCCCAAAATTGGGGACAAA	0.507																																						uc002neu.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3694-3696)aTt>aCt		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.		T	THR/ILE	0,4406		0,0,2203	91.0	80.0	84.0		3695	0.9	0.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	1232/1433	16910932	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910932T>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3695T>C	19.37:g.16910932T>C	ENSP00000447224:p.Ile1232Thr		Somatic				NWD1_uc002net.4_Missense_Mutation_p.I1097T|NWD1_uc002nev.4_Missense_Mutation_p.I1026T|NWD1_uc021uqg.1_Missense_Mutation_p.I1097T	p.I1232T	NM_001007525	NP_001007526	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			16	4117	+			1232					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3695T>C		.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318473	0.05386	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.69926	0.46;-0.44;0.46;2.27;0.5;2.27	5.35	0.885	0.19188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.621357	0.15666	N	0.250651	T	0.41305	0.1153	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.001;0.003;0.005	T	0.20706	-1.0267	10	0.21540	T	0.41	-2.6828	8.8823	0.35382	0.0:0.4189:0.0:0.5811	.	1232;1232;1097	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1097;1232;1190;1232;1026;1232;1097	ENSP00000428579:I1232T;ENSP00000447548:I1190T;ENSP00000369136:I1232T;ENSP00000428955:I1026T;ENSP00000447224:I1232T;ENSP00000340159:I1097T	ENSP00000340159:I1097T	I	+	2	0	NWD1	16771932	0.001000	0.12720	0.001000	0.08648	0.923000	0.55619	0.461000	0.21940	-0.187000	0.10516	-0.925000	0.02716	ATT		0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		35	87	0	0	0	1	0	35	87				
MTTP	4547	broad.mit.edu	37	4	100532612	100532612	+	Splice_Site	SNP	T	T	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:100532612T>C	ENST00000265517.5	+	14	2192		c.e14+2		RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Splice_Site|MTTP_ENST00000457717.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGTAGCCAGGTAACTCACTTC	0.398																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.e14+2		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						132.0	122.0	125.0					4																	100532612		2203	4300	6503	SO:0001630	splice_region_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532612T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1989+2T>C	4.37:g.100532612T>C			Somatic				MTTP_uc003hvc.4_Splice_Site_p.Q663_splice	p.Q690_splice	NM_000253	NP_000244	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2083	+			663					A8K428|Q08AM4|Q6P5T3	Splice_Site	SNP	ENST00000265517.5	37	c.2070_splice	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518726	0.44763	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTTP	100751635	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.995000	0.76257	2.139000	0.66308	0.533000	0.62120	.		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Intron	4	145	0	0	0	1	0	4	145				
CD5	921	broad.mit.edu	37	11	60886790	60886790	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:60886790G>A	ENST00000347785.3	+	5	714	c.548G>A	c.(547-549)gGt>gAt	p.G183D		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCCTGGGGGGTACCATCAGC	0.612																																						uc009ynk.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)gGt>gAt		Homo sapiens CD5 molecule (CD5), mRNA.							56.0	61.0	59.0					11																	60886790		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886790G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.548G>A	11.37:g.60886790G>A	ENSP00000342681:p.Gly183Asp		Somatic					p.G183D	NM_014207	NP_055022	WXS	Illumina GAIIx	Phase_I	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	4	651	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.548G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377197	0.82682	.	.	ENSG00000110448	ENST00000347785	T	0.36340	1.26	5.4	5.4	0.78164	Speract/scavenger receptor (1);	0.000000	0.56097	D	0.000021	T	0.56455	0.1986	L	0.58810	1.83	0.31014	N	0.718959	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.87932	D	0	-31.067	14.6581	0.68850	0.0:0.0:1.0:0.0	.	183	P06127	CD5_HUMAN	D	183	ENSP00000342681:G183D	ENSP00000342681:G183D	G	+	2	0	CD5	60643366	0.995000	0.38212	0.115000	0.21578	0.280000	0.26924	4.620000	0.61226	2.518000	0.84900	0.609000	0.83330	GGT		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	108	0	0	0	1	0	5	108				
MAP2K6	5608	broad.mit.edu	37	17	67515461	67515461	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:67515461G>C	ENST00000590474.1	+	5	541	c.254G>C	c.(253-255)cGa>cCa	p.R85P	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGCGGATCCGAGCCACAGTA	0.468																																						uc002jij.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(253-255)cGa>cCa		Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.							121.0	114.0	116.0					17																	67515461		2203	4300	6503	SO:0001583	missense	5608				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67515461G>C	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.254G>C	17.37:g.67515461G>C	ENSP00000468348:p.Arg85Pro		Somatic				MAP2K6_uc002jii.3_Missense_Mutation_p.R85P|MAP2K6_uc002jik.3_Missense_Mutation_p.R115P	p.R85P	NM_002758	NP_002749	WXS	Illumina GAIIx	Phase_I	P52564	MP2K6_HUMAN			4	542	+	Breast(10;6.05e-10)		85			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.254G>C	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270694	0.59540	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.13272	0.32	0.54753	D	0.999983	P;B;B	0.35208	0.49;0.142;0.142	B;B;B	0.35073	0.195;0.13;0.13	T	0.17319	-1.0373	8	.	.	.	-8.3415	17.5131	0.87765	0.0:0.0:1.0:0.0	.	115;85;85	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	P	85	.	.	R	+	2	0	MAP2K6	65027056	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.743000	0.98849	2.809000	0.96659	0.655000	0.94253	CGA		0.468	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		31	85	0	0	0	1	0	31	85				
WFDC3	140686	broad.mit.edu	37	20	44417689	44417689	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:44417689C>G	ENST00000243938.4	-	3	175	c.92G>C	c.(91-93)gGa>gCa	p.G31A	WFDC3_ENST00000372630.2_Intron|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	31	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCATTCTCCCTCTTTTGC	0.517																																						uc002xpf.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(91-93)gGa>gCa		Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.							171.0	159.0	163.0					20																	44417689		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417689C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.92G>C	20.37:g.44417689C>G	ENSP00000243938:p.Gly31Ala		Somatic				DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	p.G31A	NM_080614	NP_542181	WXS	Illumina GAIIx	Phase_I	Q8IUB2	WFDC3_HUMAN			2	176	-		Myeloproliferative disorder(115;0.0122)	31			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.92G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.713486|1.713486	0.30413|0.30413	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000337205|ENST00000243938;ENST00000372632	.|T;T	.|0.54071	.|0.59;0.59	4.58|4.58	2.63|2.63	0.31362|0.31362	.|Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	.|0.000000	.|0.31484	.|N	.|0.007571	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.95611|0.95611	3.695|3.695	0.58432|0.58432	D|D	0.999992|0.999992	.|D	.|0.67145	.|0.996	.|P	.|0.61800	.|0.894	T|T	0.75113|0.75113	-0.3432|-0.3432	5|10	.|0.87932	.|D	.|0	-1.6036|-1.6036	7.1316|7.1316	0.25504|0.25504	0.0:0.7872:0.0:0.2128|0.0:0.7872:0.0:0.2128	.|.	.|31	.|Q8IUB2	.|WFDC3_HUMAN	Q|A	25|31	.|ENSP00000243938:G31A;ENSP00000361715:G31A	.|ENSP00000243938:G31A	E|G	-|-	1|2	0|0	WFDC3|WFDC3	43851096|43851096	0.066000|0.066000	0.20996|0.20996	0.968000|0.968000	0.41197|0.41197	0.986000|0.986000	0.74619|0.74619	0.547000|0.547000	0.23299|0.23299	0.484000|0.484000	0.27630|0.27630	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.517	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			4	205	0	0	0	1	0	4	205				
YLPM1	56252	broad.mit.edu	37	14	75276498	75276498	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:75276498G>A	ENST00000552421.1	+	6	2943	c.2819G>A	c.(2818-2820)cGa>cAa	p.R940Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1646Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1451	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCATGGCCGAGGTGAGTAA	0.468																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4936-4938)cGa>cAa		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							54.0	50.0	51.0					14																	75276498		1956	4152	6108	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276498G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2819G>A	14.37:g.75276498G>A	ENSP00000447921:p.Arg940Gln		Somatic				YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R129Q	p.R1646Q	NM_019589	NP_062535	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	6	5061	+			1451					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4937G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360574	0.82353	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.47455	D	0.000231	T	0.61899	0.2384	L	0.29908	0.895	0.42711	D	0.993646	D;D	0.76494	0.998;0.999	P;D	0.64144	0.867;0.922	T	0.61048	-0.7141	9	0.38643	T	0.18	-7.0676	13.3266	0.60463	0.076:0.0:0.924:0.0	.	1451;1646	P49750-3;P49750-4	.;.	Q	940;1646;1451;1359;55	.	ENSP00000238571:R1451Q	R	+	2	0	YLPM1	74346251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.472000	0.83506	0.591000	0.81541	CGA		0.468	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	55	0	0	0	1	0	3	55				
ITIH6	347365	broad.mit.edu	37	X	54783712	54783712	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:54783712G>A	ENST00000218436.6	-	8	2824	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	932	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAGAGTGGGAGTAAAGGGCAT	0.567																																						uc004dtj.2																			0											c.(2794-2796)aCt>aTt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							67.0	62.0	64.0					X																	54783712		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783712G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2795C>T	X.37:g.54783712G>A	ENSP00000218436:p.Thr932Ile		Somatic					p.T932I	NM_198510	NP_940912	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			7	2825	-			932			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2795C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591704	0.03799	.	.	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.78	0.712	0.18167	.	1.151990	0.07429	N	0.895352	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	10	0.45353	T	0.12	.	3.5149	0.07721	0.27:0.0:0.5028:0.2272	.	932	Q6UXX5	ITH5L_HUMAN	I	932	ENSP00000218436:T932I	ENSP00000218436:T932I	T	-	2	0	ITIH5L	54800437	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.076000	0.16826	-0.293000	0.09583	ACT		0.567	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	69	0	0	0	1	0	3	69				
MKRN1	23608	broad.mit.edu	37	7	140179061	140179061	+	Frame_Shift_Del	DEL	G	G	-	rs542039727	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140179061delG	ENST00000255977.2	-	1	308	c.84delC	c.(82-84)cccfs	p.P28fs	MKRN1_ENST00000480552.1_5'Flank|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000474576.1_5'Flank|MKRN1_ENST00000437223.2_5'UTR	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	28					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGATCGGGGTGGGGGAGgctg	0.701																																						uc003vvt.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(82-84)cccfs		Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.			,	17,3399		7,3,1698	5.0	5.0	5.0		,	1.7	1.0	7		5	46,6438		21,4,3217	no	frameshift,frameshift	MKRN1	NM_013446.3,NM_001145125.1	,	28,7,4915	A1A1,A1R,RR		0.7094,0.4977,0.6364	,	,	140179061	63,9837	1883	3590	5473	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140179061delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.84delC	7.37:g.140179061delG	ENSP00000255977:p.Pro28fs		Somatic				MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.4_Frame_Shift_Del_p.P28fs|MKRN1_uc003vvu.4_5'UTR	p.P28fs	NM_013446	NP_038474	WXS	Illumina GAIIx	Phase_I	Q9UHC7	MKRN1_HUMAN			0	309	-	Melanoma(164;0.00956)		28					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.84delC	CCDS5860.1																																																																																				0.701	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		2	4						2	4	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	84	0	0	0	1	0	30	84				
