#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
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	108	0	0	0	0.000157383	0	5	108				
C19orf57	79173	broad.mit.edu	37	19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000586783.1	-	2	85	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000454313.1_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(85-87)tAt>tCt		chromosome 19 open reading frame 57							171.0	182.0	178.0					19																	14006305		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14006305T>G	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.86A>C	19.37:g.14006305T>G	ENSP00000465822:p.Tyr29Ser					C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S	p.Y29S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	144	-			29					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.86A>C		.	.	.	.	.	.	.	.	.	.	T	7.625	0.677669	0.14841	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.28069	1.63;1.63	4.12	-0.64	0.11493	.	1.505870	0.04592	N	0.396936	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	10	0.21540	T	0.41	-0.289	0.4011	0.00426	0.1812:0.2239:0.1873:0.4076	.	29	Q0VDD7-2	.	S	29	ENSP00000404382:Y29S;ENSP00000254336:Y29S	ENSP00000254336:Y29S	Y	-	2	0	C19orf57	13867305	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.513000	0.06305	-0.193000	0.10415	0.533000	0.62120	TAT		0.547	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		8	232	0	0	0	0.000442599	0	8	232				
FOXR2	139628	broad.mit.edu	37	X	55651014	55651014	+	Silent	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(868-870)gcT>gcG		forkhead box R2							124.0	97.0	106.0					X																	55651014		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651014T>G	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.870T>G	X.37:g.55651014T>G							p.A290A	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	1182	+			290						Silent	SNP	ENST00000339140.3	37	c.870T>G	CCDS35308.1																																																																																				0.493	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		17	15	0	0	0	0.000566183	0	17	15				
ADORA1	134	broad.mit.edu	37	1	203134669	203134669	+	Missense_Mutation	SNP	C	C	T	rs148415221		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:203134669C>T	ENST00000367236.4	+	3	1543	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	208					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.R208C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTACCTAATCCGCAAGCAGCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19457	0.0		0.001	False		,,,				2504	0.0					ENST00000367236.4																			1	Substitution - Missense(1)	p.R208C(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(622-624)Cgc>Tgc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						137.0	136.0	136.0					1																	203134669		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134669C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.622C>T	1.37:g.203134669C>T	ENSP00000356205:p.Arg208Cys					ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C	p.R208C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			3	1543	+			208					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.622C>T	CCDS1434.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.8	4.575856	0.86645	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.42900	0.96;0.96;0.96	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.095678	0.85682	D	0.000000	T	0.49355	0.1552	M	0.81239	2.535	0.80722	D	1	P;D;P	0.52996	0.718;0.957;0.726	B;B;B	0.40534	0.133;0.332;0.299	T	0.58451	-0.7634	10	0.44086	T	0.13	-34.743	19.4035	0.94640	0.0:1.0:0.0:0.0	.	241;140;208	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	208	ENSP00000308549:R208C;ENSP00000356205:R208C;ENSP00000338435:R208C	ENSP00000308549:R208C	R	+	1	0	ADORA1	201401292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.965000	0.70387	2.586000	0.87340	0.561000	0.74099	CGC		0.552	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		5	77	0	0	0	0.00116845	0	5	77				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	121	0	0	0	0.000602214	0	5	121				
AXDND1	126859	broad.mit.edu	37	1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	ENST00000367618.3	+	17	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1828-1830)aGt>aAt		axonemal dynein light chain domain containing 1							56.0	58.0	57.0					1																	179437608		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179437608G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1829G>A	1.37:g.179437608G>A	ENSP00000356590:p.Ser610Asn					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	p.S610N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			17	2216	+			610					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1829G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	0.238	-1.015554	0.02078	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.16324	2.37;2.35	4.24	0.0979	0.14496	.	0.677331	0.16024	N	0.233161	T	0.07593	0.0191	L	0.34521	1.04	0.09310	N	1	P;B	0.37466	0.596;0.001	B;B	0.32289	0.143;0.003	T	0.27262	-1.0079	10	0.09338	T	0.73	-13.2975	2.8391	0.05524	0.0997:0.3263:0.3931:0.181	.	568;610	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	610;568;544	ENSP00000356590:S610N;ENSP00000391716:S544N	ENSP00000353471:S568N	S	+	2	0	AXDND1	177704231	0.007000	0.16637	0.000000	0.03702	0.360000	0.29518	0.515000	0.22801	0.024000	0.15214	-0.136000	0.14681	AGT		0.294	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	50	0	0	0	0.000602214	0	4	50				
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		5	Substitution - Missense(5)	p.N345I(4)|p.N345S(1)	endometrium(2)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aAt>aTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	67.0					3																	178921552		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921552A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1034A>T	3.37:g.178921552A>T	ENSP00000263967:p.Asn345Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1191	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1034A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466842	0.84425	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82404	-0.0474	10	0.56958	D	0.05	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	I	345	ENSP00000263967:N345I	ENSP00000263967:N345I	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	105	0	0	0	0.00024832	0	4	105				
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		13	Substitution - Missense(13)	p.E542V(8)|p.E542A(4)|p.E542G(1)	large_intestine(5)|endometrium(5)|breast(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)gAa>gCa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							57.0	57.0	57.0					3																	178936083		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936083A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1625A>C	3.37:g.178936083A>C	ENSP00000263967:p.Glu542Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1625A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842986	0.91197	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	L	0.49778	1.585	0.80722	D	1	D	0.58268	0.982	P	0.61070	0.883	T	0.65459	-0.6163	10	0.17832	T	0.49	-23.9623	16.1026	0.81194	1.0:0.0:0.0:0.0	.	542	P42336	PK3CA_HUMAN	A	542	ENSP00000263967:E542A	ENSP00000263967:E542A	E	+	2	0	PIK3CA	180418777	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	56	0	0	0	0.00116845	0	5	56				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	136	0	0	0	0.000602214	0	5	136				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	24	0	0	0	0.00024832	0	4	24				
CYB5R4	51167	broad.mit.edu	37	6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.5	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	275	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(823-825)Tac>Cac		cytochrome b5 reductase 4							103.0	103.0	103.0					6																	84644322		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84644322T>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.823T>C	6.37:g.84644322T>C	ENSP00000358695:p.Tyr275His					CYB5R4_ENST00000479164.1_3'UTR	p.Y275H	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	11	963	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	275			FAD-binding FR-type.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.823T>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203214	0.79127	.	.	ENSG00000065615	ENST00000369681	D	0.93906	-3.31	5.94	5.94	0.96194	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.054564	0.85682	D	0.000000	D	0.95319	0.8481	M	0.81112	2.525	0.80722	D	1	P	0.46578	0.88	P	0.55545	0.778	D	0.95874	0.8893	10	0.87932	D	0	.	16.0669	0.80891	0.0:0.0:0.0:1.0	.	275	Q7L1T6	NB5R4_HUMAN	H	275	ENSP00000358695:Y275H	ENSP00000358695:Y275H	Y	+	1	0	CYB5R4	84701041	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.194000	0.65125	2.282000	0.76494	0.528000	0.53228	TAC		0.358	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		15	20	0	0	0	0.000308642	0	15	20				
RPL11	6135	broad.mit.edu	37	1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					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)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(43-45)Ctt>Ttt		ribosomal protein L11							111.0	110.0	111.0					1																	24019135		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019135C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.43C>T	1.37:g.24019135C>T	ENSP00000363676:p.Leu15Phe					RPL11_ENST00000482370.1_3'UTR	p.L15F	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	88	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	15					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.43C>T	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723241	0.68959	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76839	-1.05;-1.05;-1.05	5.07	4.15	0.48705	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	M	0.87758	2.905	0.80722	D	1	P;P	0.48503	0.821;0.911	P;D	0.69654	0.895;0.965	D	0.89468	0.3741	10	0.52906	T	0.07	-1.013	13.8819	0.63686	0.0:0.9246:0.0:0.0754	.	14;15	P62913-2;P62913	.;RL11_HUMAN	F	15;13;13	ENSP00000363676:L15F;ENSP00000390839:L13F;ENSP00000398888:L13F	ENSP00000363676:L15F	L	+	1	0	RPL11	23891722	1.000000	0.71417	0.884000	0.34674	0.180000	0.23129	3.605000	0.54088	2.352000	0.79861	0.585000	0.79938	CTT		0.547	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		8	145	0	0	0	0.000274275	0	8	145				
CACNA1E	777	broad.mit.edu	37	1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A	rs376915340	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:181708361G>A	ENST00000367573.2	+	25	3691	c.3691G>A	c.(3691-3693)Gtt>Att	p.V1231I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1212I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1231	Poly-Val.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22609	0.0		0.0	False		,,,				2504	0.0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3634-3636)Gtt>Att		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4247		0,1,2123	341.0	355.0	350.0		3691,3691,3634	5.0	1.0	1		350	3,8473		0,3,4235	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,4,6358	AA,AG,GG		0.0354,0.0235,0.0314	possibly-damaging,possibly-damaging,possibly-damaging	1231/2271,1231/2314,1212/2252	181708361	4,12720	2124	4238	6362	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708361G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3691G>A	1.37:g.181708361G>A	ENSP00000356545:p.Val1231Ile					CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I	p.V1212I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			24	3799	+			1231					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3634G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424398	0.62733	2.35E-4	3.54E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.01	5.01	0.66863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95258	0.8462	N	0.02842	-0.48	0.58432	D	0.999999	D;D;D	0.67145	0.97;0.995;0.996	P;P;P	0.56788	0.757;0.806;0.772	D	0.92965	0.6392	10	0.06365	T	0.9	.	18.2808	0.90097	0.0:0.0:1.0:0.0	.	1212;1231;1231	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1231;1212;1182;1163;838;1212;1231	ENSP00000356542:V1231I;ENSP00000434814:V1212I;ENSP00000350183:V1182I;ENSP00000351101:V1163I;ENSP00000356539:V838I;ENSP00000353222:V1212I;ENSP00000356545:V1231I	ENSP00000350183:V1182I	V	+	1	0	CACNA1E	179974984	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.663000	0.74431	2.475000	0.83589	0.561000	0.74099	GTT		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		52	144	0	0	0	0.000781405	0	52	144				
MTTP	4547	broad.mit.edu	37	4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000265517.5	+	2	388	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000457717.1_Missense_Mutation_p.N62S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)	ATTTCCTCCAACGTGGATGTG	0.463																																						ENST00000457717.1																			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.(184-186)aAc>aGc		microsomal triglyceride transfer protein	Hesperetin(DB01094)						173.0	142.0	153.0					4																	100503185		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503185A>G		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.185A>G	4.37:g.100503185A>G	ENSP00000265517:p.Asn62Ser					MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	p.N62S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	441	+			62			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.185A>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	0.967	-0.701365	0.03255	.	.	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.76	-4.4	0.03600	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.644830	0.16861	N	0.196524	T	0.26412	0.0645	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.0	B;B;B	0.14578	0.011;0.005;0.005	T	0.07539	-1.0767	10	0.33940	T	0.23	-11.5377	14.1229	0.65201	0.4557:0.0:0.5443:0.0	.	89;62;62	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	S	72;89;62;62;62;62	ENSP00000426755:N72S;ENSP00000427679:N89S;ENSP00000400821:N62S;ENSP00000265517:N62S;ENSP00000407350:N62S	ENSP00000265517:N62S	N	+	2	0	MTTP	100722208	0.597000	0.26874	0.002000	0.10522	0.003000	0.03518	0.662000	0.25038	-1.051000	0.03226	-0.912000	0.02778	AAC		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			32	103	0	0	0	0.00283554	0	32	103				
HMBS	3145	broad.mit.edu	37	11	118959361	118959361	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:118959361C>T	ENST00000278715.3	+	3	255	c.104C>T	c.(103-105)aCg>aTg	p.T35M	HMBS_ENST00000537841.1_Missense_Mutation_p.T18M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M|HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	35			T -> M (in AIP). {ECO:0000269|PubMed:11013452}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CGCATACAGACGGACAGTGTG	0.522																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	GRCh37	CM002609	HMBS	M		c.(52-54)aCg>aTg		hydroxymethylbilane synthase							153.0	133.0	140.0					11																	118959361		2200	4295	6495	SO:0001583	missense	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118959361C>T	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.104C>T	11.37:g.118959361C>T	ENSP00000278715:p.Thr35Met					HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000278715.3_Missense_Mutation_p.T35M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M	p.T18M			P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	3	344	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	35		M -> I (in AIP).			A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.53C>T	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838265	0.71373	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59	4.96	4.96	0.65561	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.97659	4.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	D	0.96648	0.9479	10	0.87932	D	0	-11.7763	17.3661	0.87364	0.0:1.0:0.0:0.0	.	18;17;35;35	G3V1P4;F5H345;G5EA58;P08397	.;.;.;HEM3_HUMAN	M	35;35;18;18;35;35;17;18;18;18;18	ENSP00000278715:T35M;ENSP00000438726:T35M;ENSP00000444730:T18M;ENSP00000443058:T18M;ENSP00000445599:T35M;ENSP00000438424:T35M;ENSP00000445429:T17M;ENSP00000440092:T18M;ENSP00000442079:T18M;ENSP00000376584:T18M;ENSP00000392041:T18M	ENSP00000392041:T18M	T	+	2	0	CTD-2589C9.4;HMBS	118464571	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.904000	0.75708	2.592000	0.87571	0.561000	0.74099	ACG		0.522	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		13	98	0	0	0	0.000958276	0	13	98				
HTR5A	3361	broad.mit.edu	37	7	154875945	154875945	+	Silent	SNP	G	G	A	rs572459769		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:154875945G>A	ENST00000287907.2	+	2	1398	c.822G>A	c.(820-822)acG>acA	p.T274T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	274					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AAGGGGACACGTGGCGGGAGC	0.607																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(820-822)acG>acA		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							95.0	76.0	82.0					7																	154875945		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875945G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.822G>A	7.37:g.154875945G>A						HTR5A_ENST00000486819.1_3'UTR	p.T274T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1398	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	274					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.822G>A	CCDS5936.1																																																																																				0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		13	39	0	0	0	0.00185496	0	13	39				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	119	0	0	0	0.00024832	0	4	119				
CCNL2	81669	broad.mit.edu	37	1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(793-795)ttG>ttC		cyclin L2							96.0	97.0	97.0					1																	1325908		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325908C>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.795G>C	1.37:g.1325908C>G	ENSP00000383611:p.Leu265Phe					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F	p.L265F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	7	800	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	265			Cyclin-like 2.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.795G>C	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227238	0.39399	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.26223	1.75;1.75	5.72	4.82	0.62117	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.56097	D	0.000026	T	0.54806	0.1881	M	0.89904	3.07	0.50039	D	0.999849	D	0.89917	1.0	D	0.87578	0.998	T	0.59606	-0.7423	10	0.40728	T	0.16	.	10.2607	0.43425	0.0:0.7788:0.1455:0.0758	.	265	Q96S94	CCNL2_HUMAN	F	265;43	ENSP00000383611:L265F;ENSP00000386132:L43F	ENSP00000383611:L265F	L	-	3	2	CCNL2	1315771	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.854000	0.27791	1.446000	0.47643	0.650000	0.86243	TTG		0.408	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		23	78	0	0	0	0.00229938	0	23	78				
BTLA	151888	broad.mit.edu	37	3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|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)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(187-189)Tgt>Cgt		B and T lymphocyte associated							139.0	131.0	133.0					3																	112198518		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198518A>G	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.187T>C	3.37:g.112198518A>G	ENSP00000333919:p.Cys63Arg					BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	p.C63R	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	389	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	63			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.187T>C	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253609	0.59212	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.40476	1.03;1.03	3.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000099	T	0.54615	0.1869	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.993;0.999	T	0.56715	-0.7933	10	0.87932	D	0	-12.9693	8.28	0.31896	1.0:0.0:0.0:0.0	.	63;63	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	R	63	ENSP00000333919:C63R;ENSP00000373178:C63R	ENSP00000333919:C63R	C	-	1	0	BTLA	113681208	1.000000	0.71417	0.974000	0.42286	0.349000	0.29174	4.051000	0.57412	1.740000	0.51718	0.533000	0.62120	TGT		0.398	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		46	75	0	0	0	0.000781405	0	46	75				
TTLL8	164714	broad.mit.edu	37	22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	298	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(784-786)Gag>Aag		tubulin tyrosine ligase-like family, member 8							79.0	85.0	83.0					22																	50480096		2175	4264	6439	SO:0001583	missense	164714							g.chr22:50480096C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.784G>A	22.37:g.50480096C>T	ENSP00000266182:p.Glu262Lys					TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K	p.E262K						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	783	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.784G>A		.	.	.	.	.	.	.	.	.	.	C	12.53	1.965776	0.34659	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.42131	3.57;0.98;0.98	5.18	4.1	0.47936	.	0.628717	0.14924	N	0.290487	T	0.40619	0.1124	L	0.56769	1.78	0.31724	N	0.63786	B	0.20887	0.049	B	0.17433	0.018	T	0.45352	-0.9267	10	0.39692	T	0.17	.	13.3935	0.60836	0.1583:0.8417:0.0:0.0	.	262	B5MDV0	.	K	262;262;298	ENSP00000266182:E262K;ENSP00000387509:E262K;ENSP00000392252:E298K	ENSP00000266182:E262K	E	-	1	0	TTLL8	48822223	0.710000	0.27896	0.940000	0.37924	0.278000	0.26855	2.335000	0.43929	2.406000	0.81754	0.484000	0.47621	GAG		0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		5	27	0	0	0	0.000602214	0	5	27				
AKAP2	11217	broad.mit.edu	37	9	112899835	112899835	+	Missense_Mutation	SNP	G	G	A	rs147886830		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:112899835G>A	ENST00000259318.7	+	2	1525	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	440										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATTTACGAGCGCCCGGGCTGT	0.537																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2011-2013)Gcc>Acc				G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	94.0	93.0		1585,1318,1585,2011,2011	5.9	1.0	9	dbSNP_134	93	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	58,58,58,58,58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	529/949,440/860,529/962,671/1104,671/1091	112899835	5,13001	2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899835G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1318G>A	9.37:g.112899835G>A	ENSP00000259318:p.Ala440Thr					AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A440T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T	p.A671T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2191	+			440					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2011G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650444	0.67472	2.27E-4	4.65E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.60171	1.57;1.58;1.57;1.58;0.84;0.24;0.21;0.87	5.86	5.86	0.93980	.	0.050238	0.85682	D	0.000000	T	0.62950	0.2470	L	0.32530	0.975	0.80722	D	1	P;D;P;D;P;D;D;D	0.69078	0.944;0.964;0.923;0.964;0.939;0.997;0.997;0.996	B;P;B;P;B;P;P;P	0.54706	0.331;0.454;0.148;0.454;0.266;0.759;0.759;0.579	T	0.64993	-0.6276	10	0.72032	D	0.01	-21.8755	19.1609	0.93531	0.0:0.0:1.0:0.0	.	440;529;523;529;530;671;671;489	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	671;671;671;671;529;529;489;440	ENSP00000363654:A671T;ENSP00000305861:A671T;ENSP00000451476:A671T;ENSP00000421522:A671T;ENSP00000404782:A529T;ENSP00000363649:A529T;ENSP00000419268:A489T;ENSP00000259318:A440T	ENSP00000259318:A440T	A	+	1	0	PALM2-AKAP2;AKAP2	111939656	1.000000	0.71417	0.963000	0.40424	0.769000	0.43574	9.144000	0.94629	2.757000	0.94681	0.655000	0.94253	GCC		0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		33	88	0	0	0	0.00283554	0	33	88				
COL1A2	1278	broad.mit.edu	37	7	94037158	94037158	+	Splice_Site	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e13-1		collagen, type I, alpha 2	Collagenase(DB00048)						69.0	66.0	67.0					7																	94037158		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037158G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.595-1G>A	7.37:g.94037158G>A		HNSCC(75;0.22)						NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1065	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)							P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37		CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062916	0.76187	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.73	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8794	0.86060	0.0:0.1284:0.8716:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93875094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.183000	0.94887	1.521000	0.48983	0.650000	0.86243	.		0.323	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Intron	5	27	0	0	0	0.00116845	0	5	27				
SHANK1	50944	broad.mit.edu	37	19	51217187	51217187	+	Silent	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51217187C>T	ENST00000293441.1	-	5	678	c.660G>A	c.(658-660)gcG>gcA	p.A220A	SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTCTGGGCCGCCAGTGTCA	0.617																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(658-660)gcG>gcA		SH3 and multiple ankyrin repeat domains 1							33.0	35.0	34.0					19																	51217187		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217187C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.660G>A	19.37:g.51217187C>T						SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A	p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	5	678	-		all_neural(266;0.057)	220					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.660G>A	CCDS12799.1																																																																																				0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		9	30	0	0	0	0.000673444	0	9	30				
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(817-819)Ctt>Ttt		olfactory receptor, family 2, subfamily A, member 12							207.0	199.0	201.0					7																	143793017		1912	4138	6050	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793017C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.817C>T	7.37:g.143793017C>T	ENSP00000386174:p.Leu273Phe						p.L273F	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	877	+	Melanoma(164;0.0783)		273					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.817C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691634	0.30052	.	.	ENSG00000221858	ENST00000408949	T	0.38401	1.14	4.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.35799	0.0944	L	0.39020	1.185	0.09310	N	1	P	0.36712	0.566	P	0.47470	0.548	T	0.31336	-0.9947	9	0.56958	D	0.05	-15.1335	6.2571	0.20879	0.0:0.5767:0.0:0.4233	.	273	Q8NGT7	O2A12_HUMAN	F	273	ENSP00000386174:L273F	ENSP00000386174:L273F	L	+	1	0	OR2A12	143423950	0.000000	0.05858	0.001000	0.08648	0.518000	0.34316	-0.345000	0.07770	0.128000	0.18479	0.505000	0.49811	CTT		0.522	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			80	216	0	0	0	0.000781405	0	80	216				
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94.0	100.0	98.0					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	172	0	0	0	6.4e-05	0	3	172				
LINC00969	440993	broad.mit.edu	37	3	195385023	195385023	+	lincRNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:195385023C>A	ENST00000445430.1	+	0	76				AC069513.4_ENST00000423600.1_lincRNA					long intergenic non-protein coding RNA 969																		TTGGCGCTGGCGCTGGCCAAG	0.771																																						ENST00000445430.1																			0																																																			0							g.chr3:195385023C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195385023C>A														0	76	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.771	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	4	1	0	6.4e-05	6.4e-05	0.00091264	3	4				
MACF1	23499	broad.mit.edu	37	1	39747939	39747939	+	Silent	SNP	C	C	T	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000372915.3	+	6	690	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000564288.1_Silent_p.L196L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(586-588)ctC>ctT		microtubule-actin crosslinking factor 1		C		1,4405	2.1+/-5.4	0,1,2202	122.0	115.0	118.0		603	-1.5	0.9	1	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	MACF1	NM_012090.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/5431	39747939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39747939C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.603C>T	1.37:g.39747939C>T						MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000372915.3_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000361689.2_Silent_p.L201L	p.L196L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		7	1365	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	201			Actin-binding.|CH 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.588C>T																																																																																					0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	92	0	0	0	0.000157383	0	7	92				
CEP170B	283638	broad.mit.edu	37	14	105354172	105354172	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:105354172G>A	ENST00000414716.3	+	12	3824	c.3596G>A	c.(3595-3597)aGt>aAt	p.S1199N	CEP170B_ENST00000418279.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000453495.1_Missense_Mutation_p.S1200N|CEP170B_ENST00000556508.1_Missense_Mutation_p.S1129N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1199						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TCTGGCCGCAGTGTGGAGTTG	0.692																																						ENST00000453495.1																			0											c.(3598-3600)aGt>aAt		centrosomal protein 170B							5.0	8.0	7.0					14																	105354172		1956	4068	6024	SO:0001583	missense	283638							g.chr14:105354172G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3596G>A	14.37:g.105354172G>A	ENSP00000404151:p.Ser1199Asn					CEP170B_ENST00000556508.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000418279.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000414716.3_Missense_Mutation_p.S1199N	p.S1200N							12	3827	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3599G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.998716	0.74818	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.53640	0.62;0.76;0.61;0.76	3.88	3.88	0.44766	.	0.340920	0.28933	N	0.013676	T	0.69151	0.3079	M	0.77103	2.36	0.50813	D	0.999894	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.85130	0.962;0.986;0.997	T	0.75434	-0.3319	10	0.72032	D	0.01	-10.5452	15.8393	0.78831	0.0:0.0:1.0:0.0	.	1199;1199;1129	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	N	1129;1199;1200;1129	ENSP00000451249:S1129N;ENSP00000404151:S1199N;ENSP00000407238:S1200N;ENSP00000415006:S1129N	ENSP00000404151:S1199N	S	+	2	0	KIAA0284	104425217	1.000000	0.71417	0.972000	0.41901	0.684000	0.39900	6.215000	0.72206	1.721000	0.51461	0.306000	0.20318	AGT		0.692	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		8	4	0	0	0	0.000978159	0	8	4				
IFT172	26160	broad.mit.edu	37	2	27682634	27682634	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27682634C>T	ENST00000260570.3	-	24	2687	c.2584G>A	c.(2584-2586)Gac>Aac	p.D862N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	862					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2584-2586)Gac>Aac		intraflagellar transport 172 homolog (Chlamydomonas)							191.0	181.0	184.0					2																	27682634		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27682634C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2584G>A	2.37:g.27682634C>T	ENSP00000260570:p.Asp862Asn						p.D862N	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			24	2687	-	Acute lymphoblastic leukemia(172;0.155)		862					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2584G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788423	0.96945	.	.	ENSG00000138002	ENST00000260570	T	0.63580	-0.05	6.08	6.08	0.98989	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.78783	-0.2069	10	0.51188	T	0.08	-26.7716	19.2286	0.93827	0.0:1.0:0.0:0.0	.	862	Q9UG01	IF172_HUMAN	N	862	ENSP00000260570:D862N	ENSP00000260570:D862N	D	-	1	0	IFT172	27536138	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.569000	0.82380	2.890000	0.99128	0.655000	0.94253	GAC		0.527	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		18	195	0	0	0	0.00074312	0	18	195				
DLL3	10683	broad.mit.edu	37	19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	rs141671275	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39995921G>A	ENST00000205143.4	+	6	930	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGCTGCGGTGTGAGGTG	0.592																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(922-924)cGg>cAg		delta-like 3 (Drosophila)		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	109.0	116.0		923,923	2.0	0.1	19	dbSNP_134	116	0,8600		0,0,4300	no	missense,missense	DLL3	NM_016941.3,NM_203486.2	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	308/619,308/588	39995921	2,13004	2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995921G>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.923G>A	19.37:g.39995921G>A	ENSP00000205143:p.Arg308Gln					DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q	p.R308Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	930	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		308			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.923G>A	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133810	0.37630	4.54E-4	0.0	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.91631	-2.88;-2.75	5.23	1.95	0.26073	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39210	N	0.001436	T	0.80752	0.4683	N	0.21194	0.64	0.36023	D	0.838844	B;B;B	0.27951	0.195;0.195;0.063	B;B;B	0.22753	0.041;0.025;0.025	T	0.71262	-0.4645	9	.	.	.	.	3.0548	0.06181	0.3199:0.0:0.4933:0.1868	.	308;308;308	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	Q	308	ENSP00000348810:R308Q;ENSP00000205143:R308Q	.	R	+	2	0	DLL3	44687761	1.000000	0.71417	0.128000	0.21923	0.058000	0.15608	4.029000	0.57253	0.597000	0.29811	-0.268000	0.10319	CGG		0.592	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			28	86	0	0	0	0.00127121	0	28	86				
SLC3A2	6520	broad.mit.edu	37	11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377890.2	+	5	1033	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.D320N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(958-960)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 2							108.0	101.0	103.0					11																	62649502		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649502G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.865G>A	11.37:g.62649502G>A	ENSP00000367122:p.Asp289Asn					SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR	p.D320N			P08195	4F2_HUMAN			6	1182	+			289	S -> F (in Ref. 5; AAA35489).				Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.958G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034530	0.93575	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000539458;ENST00000422606	D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	5.53	5.53	0.82687	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.278145	0.40640	N	0.001048	D	0.99086	0.9686	M	0.90145	3.09	0.41923	D	0.990526	P;P;P;P;P	0.52692	0.955;0.9;0.87;0.91;0.911	P;P;P;P;P	0.54238	0.49;0.458;0.7;0.58;0.746	D	0.99257	1.0889	10	0.72032	D	0.01	-9.5141	12.6852	0.56944	0.0:0.1657:0.8343:0.0	.	227;258;289;188;320	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	N	320;290;289;290;227;258;188;144;170	ENSP00000367124:D320N;ENSP00000367123:D290N;ENSP00000367122:D289N;ENSP00000367121:D227N;ENSP00000444236:D258N;ENSP00000340815:D188N;ENSP00000438032:D144N	ENSP00000340815:D188N	D	+	1	0	SLC3A2	62406078	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.940000	0.40223	2.605000	0.88082	0.655000	0.94253	GAT		0.488	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		19	65	0	0	0	0.000958276	0	19	65				
NLRP4	147945	broad.mit.edu	37	19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(253-255)tGc>tTc		NLR family, pyrin domain containing 4							72.0	75.0	74.0					19																	56363700		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56363700G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.254G>T	19.37:g.56363700G>T	ENSP00000301295:p.Cys85Phe					NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	676	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	85			DAPIN.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.254G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154359	0.38021	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.51817	0.69;0.69	4.46	2.05	0.26809	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.54615	0.1869	L	0.60067	1.865	0.09310	N	1	D	0.60160	0.987	P	0.58520	0.84	T	0.39143	-0.9628	9	0.28530	T	0.3	.	8.676	0.34179	0.0:0.0:0.5662:0.4338	.	85	Q96MN2	NALP4_HUMAN	F	85	ENSP00000301295:C85F;ENSP00000344787:C85F	ENSP00000301295:C85F	C	+	2	0	NLRP4	61055512	0.000000	0.05858	0.090000	0.20809	0.008000	0.06430	0.159000	0.16442	1.116000	0.41820	0.655000	0.94253	TGC		0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		27	60	1	0	1.2476e-16	0.00106085	1.89263e-15	27	60				
HDAC9	9734	broad.mit.edu	37	7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000432645.2	+	22	2869	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.D957Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	957	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2869-2871)Gat>Tat		histone deacetylase 9	Valproic Acid(DB00313)						210.0	205.0	206.0					7																	18975506		1957	4156	6113	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975506G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2869G>T	7.37:g.18975506G>T	ENSP00000410337:p.Asp957Tyr					HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y	p.D957Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			23	3019	+	all_lung(11;0.187)		957			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2869G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805830	0.90623	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000006	D	0.89715	0.6795	H	0.95365	3.66	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	0.83275	0.996;0.97;0.97;0.983;0.97	D	0.91986	0.5599	10	0.87932	D	0	-16.3427	20.0661	0.97704	0.0:0.0:1.0:0.0	.	205;916;960;957;957	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	Y	957;916;957;960;869	ENSP00000384657:D957Y;ENSP00000383912:D916Y;ENSP00000410337:D957Y;ENSP00000408617:D960Y	ENSP00000339165:D869Y	D	+	1	0	HDAC9	18942031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.739000	0.93911	0.563000	0.77884	GAT		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	220	1	0	8.00594e-06	0.000958276	0.000116495	18	220				
MAMDC2	256691	broad.mit.edu	37	9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1096-1098)aaA>aaT		MAM domain containing 2							140.0	130.0	133.0					9																	72755164		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755164A>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1098A>T	9.37:g.72755164A>T	ENSP00000366387:p.Lys366Asn					MAMDC2-AS1_ENST00000591368.1_RNA	p.K366N	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			8	1715	+			366			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1098A>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431009	0.83776	.	.	ENSG00000165072	ENST00000377182	T	0.02177	4.41	6.02	-3.09	0.05331	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.081948	0.85682	D	0.000000	T	0.05914	0.0154	L	0.57536	1.79	0.46901	D	0.999242	P	0.50617	0.937	P	0.59643	0.861	T	0.10941	-1.0608	10	0.23302	T	0.38	-18.6317	13.5162	0.61541	0.4347:0.0:0.5653:0.0	.	366	Q7Z304	MAMC2_HUMAN	N	366	ENSP00000366387:K366N	ENSP00000366387:K366N	K	+	3	2	MAMDC2	71944984	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	0.841000	0.27613	-0.302000	0.08869	0.533000	0.62120	AAA		0.463	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		7	127	0	0	0	0.000442599	0	7	127				
TNRC6A	27327	broad.mit.edu	37	16	24801364	24801364	+	Silent	SNP	C	C	T	rs145186487		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:24801364C>T	ENST00000395799.3	+	6	1530	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	TNRC6A_ENST00000315183.7_Silent_p.S467S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	467	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TACCAAACTCCGGTTCAGTGC	0.438																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1399-1401)tcC>tcT		trinucleotide repeat containing 6A		C		0,4394		0,0,2197	54.0	53.0	54.0		1401	4.0	1.0	16	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNRC6A	NM_014494.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		467/1963	24801364	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801364C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1401C>T	16.37:g.24801364C>T						TNRC6A_ENST00000315183.7_Silent_p.S467S	p.S467S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1530	+			467			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.1401C>T	CCDS10624.2																																																																																				0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	65	0	0	0	0.00198382	0	7	65				
KRIT1	889	broad.mit.edu	37	7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000340022.2	-	8	1595	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000394507.1_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193	Interaction with ITGB1BP1.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(577-579)Cct>Tct		KRIT1, ankyrin repeat containing							165.0	159.0	161.0					7																	91864869		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91864869G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.577C>T	7.37:g.91864869G>A	ENSP00000344668:p.Pro193Ser					KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	p.P193S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1360	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		193					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.577C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113387	0.94339	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;D;D	0.95821	-1.38;-1.38;-1.38;-1.38;-2.04;-3.82	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.75484	0.815;0.986	D	0.97261	0.9904	10	0.87932	D	0	0.94	18.7703	0.91888	0.0:0.0:1.0:0.0	.	193;193	A6NNU0;O00522	.;KRIT1_HUMAN	S	193	ENSP00000378015:P193S;ENSP00000344668:P193S;ENSP00000410909:P193S;ENSP00000378013:P193S;ENSP00000378011:P193S;ENSP00000391675:P193S	ENSP00000344668:P193S	P	-	1	0	KRIT1	91702805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.416000	0.81992	0.460000	0.39030	CCT		0.393	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			7	103	0	0	0	0.000274275	0	7	103				
PIK3R2	5296	broad.mit.edu	37	19	18278049	18278049	+	Missense_Mutation	SNP	G	G	T	rs372272045		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18278049G>T	ENST00000593731.1	+	13	2229	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D557Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	557					blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CAGAGAGATCGACAAGCGCAT	0.622																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1669-1671)Gac>Tac		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							79.0	83.0	82.0					19																	18278049		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18278049G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1669G>T	19.37:g.18278049G>T	ENSP00000471914:p.Asp557Tyr					PIK3R2_ENST00000222254.7_Missense_Mutation_p.D557Y	p.D557Y			O00459	P85B_HUMAN			13	2229	+			557					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1669G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637908	0.87760	.	.	ENSG00000105647	ENST00000222254	T	0.35236	1.32	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71328	-0.4626	10	0.87932	D	0	-43.4013	16.4813	0.84158	0.0:0.0:1.0:0.0	.	557	O00459	P85B_HUMAN	Y	557	ENSP00000222254:D557Y	ENSP00000222254:D557Y	D	+	1	0	PIK3R2	18139049	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	9.667000	0.98616	2.288000	0.76882	0.561000	0.74099	GAC		0.622	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		12	88	1	0	1.08611e-07	0.000978159	1.61332e-06	12	88				
TNFRSF21	27242	broad.mit.edu	37	6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1897-1899)Gga>Tga		tumor necrosis factor receptor superfamily, member 21							106.0	118.0	114.0					6																	47200572		2203	4300	6503	SO:0001587	stop_gained	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200572C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1897G>T	6.37:g.47200572C>A	ENSP00000296861:p.Gly633*						p.G633*	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2290	-			633					B2RDI9|Q0D2P5|Q96D86	Nonsense_Mutation	SNP	ENST00000296861.2	37	c.1897G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	42	9.340086	0.99142	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	.	.	.	5.95	5.95	0.96441	.	0.150367	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	.	.	.	X	633;322	.	ENSP00000296861:G633X	G	-	1	0	TNFRSF21	47308531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGA		0.478	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		45	120	1	0	1.41504e-22	0.00285205	2.1933e-21	45	120				
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		4	369	0	0	0	0.00116845	0	4	369				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	28	0	0	0	0.00116845	0	4	28				
PIK3R6	146850	broad.mit.edu	37	17	8731970	8731970	+	Silent	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:8731970G>A	ENST00000311434.9	-	11	1466	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	409					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GCCGGGACACGCCGGGCAGCA	0.701																																						ENST00000311434.9																			0											c.(1225-1227)ggC>ggT		phosphoinositide-3-kinase, regulatory subunit 6							15.0	18.0	17.0					17																	8731970		1929	4098	6027	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8731970G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1227C>T	17.37:g.8731970G>A						PIK3R6_ENST00000434064.2_5'UTR	p.G409G	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			11	1466	-			409					Q658R3	Silent	SNP	ENST00000311434.9	37	c.1227C>T																																																																																					0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		5	29	0	0	0	0.00116845	0	5	29				
NBPF1	55672	broad.mit.edu	37	1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493																																						ENST00000430580.2																			0											c.(2689-2691)gafs		neuroblastoma breakpoint family, member 1							304.0	278.0	287.0					1																	16893822		2202	4283	6485	SO:0001589	frameshift_variant	55672					cytoplasm		g.chr1:16893822delC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2691delG	1.37:g.16893822delC	ENSP00000474456:p.Glu897fs					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E897fs	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3578	-			897			NBPF 5.		Q8N4E8|Q9C0H0	Frame_Shift_Del	DEL	ENST00000430580.2	37	c.2691delG																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		9	1785						9	1785	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183534901	183534901	+	Missense_Mutation	SNP	G	G	A	rs137937390	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183534901G>A	ENST00000367535.3	-	10	1189	c.938C>T	c.(937-939)cCg>cTg	p.P313L	NCF2_ENST00000413720.1_Missense_Mutation_p.P268L|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	313					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GTCGGACTGCGGAGAGCTTTC	0.597													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0					ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(802-804)cCg>cTg		neutrophil cytosolic factor 2		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	72.0	72.0	72.0		938,938,695,803	-6.2	0.0	1	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,missense,missense	NCF2	NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1	98,98,98,98	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	313/527,313/527,232/446,268/482	183534901	4,13002	2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183534901G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.938C>T	1.37:g.183534901G>A	ENSP00000356505:p.Pro313Leu					NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L|NCF2_ENST00000367535.3_Missense_Mutation_p.P313L	p.P268L	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			9	1077	-			313			SH3 1.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.803C>T	CCDS1356.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.736	0.700266	0.15106	9.08E-4	0.0	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.27	-6.15	0.02105	Src homology-3 domain (1);	0.900210	0.09849	N	0.747816	T	0.07638	0.0192	N	0.05574	-0.02	0.09310	N	0.999992	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.22695	-1.0209	10	0.23302	T	0.38	-7.3791	4.8452	0.13510	0.4002:0.0:0.3004:0.2994	.	232;268;313	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	L	313;385;268;232;313;52	ENSP00000356506:P313L;ENSP00000399294:P268L;ENSP00000407217:P232L;ENSP00000356505:P313L;ENSP00000406198:P52L	ENSP00000356505:P313L	P	-	2	0	NCF2	181801524	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	-0.411000	0.07142	-1.846000	0.01175	0.561000	0.74099	CCG		0.597	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		16	69	0	0	0	0.000308642	0	16	69				
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(604-609)ttacfs		5'-nucleotidase domain containing 3																																				SO:0001589	frameshift_variant	51559						hydrolase activity|metal ion binding	g.chr12:104192373_104192374delAA	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.606_607delTT	12.37:g.104192375_104192376delAA	ENSP00000376615:p.Phe202fs					NT5DC3_ENST00000465502.1_5'UTR	p.FY202fs	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			5	646_647	-			202					Q9NUM7|Q9P2T2|Q9P2T3	Frame_Shift_Del	DEL	ENST00000392876.3	37	c.606_607delTT	CCDS41824.1																																																																																				0.441	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		8	89						8	89	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21741578	21741579	+	IGR	INS	-	-	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:21741578_21741579insT	ENST00000319481.3	-	0	4195				RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTGTATTGCTTTTTTTTGTA	0.371																																						ENST00000583267.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr18:21741578_21741579insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21741586_21741586dupT														0	315	-								B7Z7D3|Q9BZF5|Q9NW87	RNA	INS	ENST00000319481.3	37		CCDS11884.1																																																																																				0.371	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	17						7	17	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000333987.7	+	7	1075_1078	c.569_572delACTT	c.(568-573)gacttafs	p.DL190fs	ZNF568_ENST00000415168.1_Frame_Shift_Del_p.DL126fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(376-381)gafs		zinc finger protein 568																																				SO:0001589	frameshift_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440624_37440627delACTT	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.569_572delACTT	19.37:g.37440628_37440631delACTT	ENSP00000334685:p.Asp190fs					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron	p.DL126fs	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	753_756	+	Esophageal squamous(110;0.183)		190					B4DS92|E7ER33|Q6N060|Q8NA64	Frame_Shift_Del	DEL	ENST00000333987.7	37	c.377_380delACTT	CCDS42558.1																																																																																				0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		34	93						34	93	---	---	---	---
