#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
DMP1	1758	broad.mit.edu	37	4	88584444	88584444	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr4:88584444A>T	ENST00000339673.6	+	6	1613	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	505					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGACCAAGATGACAATGAC	0.413																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1513-1515)gAt>gTt		dentin matrix acidic phosphoprotein 1							153.0	151.0	152.0					4																	88584444		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584444A>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1514A>T	4.37:g.88584444A>T	ENSP00000340935:p.Asp505Val					RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V|RP11-742B18.1_ENST00000507894.1_RNA	p.D505V	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1613	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	505					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1514A>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175942	0.38413	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60040	0.22;0.22	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000013	T	0.71945	0.3400	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74487	-0.3649	10	0.87932	D	0	-21.1106	14.5734	0.68229	1.0:0.0:0.0:0.0	.	489;505	Q13316-2;Q13316	.;DMP1_HUMAN	V	505;489	ENSP00000340935:D505V;ENSP00000282479:D489V	ENSP00000282479:D489V	D	+	2	0	DMP1	88803468	1.000000	0.71417	0.995000	0.50966	0.311000	0.27955	5.942000	0.70203	2.264000	0.75181	0.533000	0.62120	GAT		0.413	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			56	88	0	0	0	0.870114	0	56	88				
MS4A12	54860	broad.mit.edu	37	11	60274284	60274284	+	Silent	SNP	C	C	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:60274284C>G	ENST00000016913.4	+	6	729	c.672C>G	c.(670-672)gcC>gcG	p.A224A	MS4A12_ENST00000537076.1_Silent_p.A178A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	224						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCCATTTTGCCAACCAAGCAA	0.418																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(670-672)gcC>gcG		membrane-spanning 4-domains, subfamily A, member 12							111.0	98.0	102.0					11																	60274284		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60274284C>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.672C>G	11.37:g.60274284C>G						MS4A12_ENST00000537076.1_Silent_p.A178A	p.A224A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			6	729	+			224					F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.672C>G	CCDS7988.1																																																																																				0.418	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			11	39	0	0	0	0.435327	0	11	39				
TMEM38B	55151	broad.mit.edu	37	9	108483839	108483839	+	Silent	SNP	G	G	A	rs141978983		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr9:108483839G>A	ENST00000374692.3	+	3	408	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM38B_ENST00000374688.1_Silent_p.P43P	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTGCCCGCATGACCTAG	0.353																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(127-129)ccG>ccA		transmembrane protein 38B		G		0,4404		0,0,2202	78.0	72.0	74.0		291	-5.9	0.0	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM38B	NM_018112.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		97/292	108483839	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483839G>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.291G>A	9.37:g.108483839G>A						TMEM38B_ENST00000374692.3_Silent_p.P97P	p.P43P			Q9NVV0	TM38B_HUMAN			3	839	+			97					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	c.129G>A	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.352536	0.01256	0.0	1.16E-4	ENSG00000095209	ENST00000435034	.	.	.	5.74	-5.94	0.02247	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36915	-0.9728	4	.	.	.	-14.4034	0.9743	0.01423	0.2911:0.107:0.187:0.415	.	.	.	.	H	34	.	.	R	+	2	0	TMEM38B	107523660	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	0.084000	0.14891	-1.309000	0.02315	-1.311000	0.01308	CGC		0.353	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		3	38	0	0	0	0.115264	0	3	38				
TMEM101	84336	broad.mit.edu	37	17	42090386	42090386	+	Silent	SNP	G	G	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr17:42090386G>T	ENST00000589334.1	-	4	771	c.456C>A	c.(454-456)ctC>ctA	p.L152L	TMEM101_ENST00000206380.3_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L|TMEM101_ENST00000587529.1_Silent_p.L152L			Q96IK0	TM101_HUMAN	transmembrane protein 101	152					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACACAGATGAGGTAGATAC	0.597																																						ENST00000589334.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(454-456)ctC>ctA		transmembrane protein 101							89.0	55.0	66.0					17																	42090386		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090386G>T	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.456C>A	17.37:g.42090386G>T						TMEM101_ENST00000587529.1_Silent_p.L152L|TMEM101_ENST00000206380.3_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L	p.L152L			Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	771	-		Breast(137;0.0264)|Prostate(33;0.0861)	152					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.456C>A	CCDS11474.1																																																																																				0.597	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		3	29	1	0	0.004672	0.115264	0.00500571	3	29				
INHBC	3626	broad.mit.edu	37	12	57843479	57843479	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57843479A>G	ENST00000309668.2	+	2	860	c.733A>G	c.(733-735)Agg>Ggg	p.R245G		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	245					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						AGGAGGGTCCAGGATGTGCTG	0.577																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(733-735)Agg>Ggg		inhibin, beta C							105.0	93.0	97.0					12																	57843479		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843479A>G		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.733A>G	12.37:g.57843479A>G	ENSP00000308716:p.Arg245Gly					INHBC_ENST00000550133.1_Intron	p.R245G	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	860	+			245					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.733A>G	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803721	0.31869	.	.	ENSG00000175189	ENST00000309668	T	0.62788	0.0	3.89	2.73	0.32206	Transforming growth factor-beta, C-terminal (2);	0.394214	0.25711	N	0.028812	T	0.44829	0.1312	L	0.34521	1.04	0.30222	N	0.796733	B	0.30563	0.285	B	0.31495	0.131	T	0.36866	-0.9730	9	.	.	.	-10.526	5.4758	0.16695	0.7258:0.1789:0.0953:0.0	.	245	P55103	INHBC_HUMAN	G	245	ENSP00000308716:R245G	.	R	+	1	2	INHBC	56129746	0.000000	0.05858	0.998000	0.56505	0.966000	0.64601	0.910000	0.28571	0.837000	0.34925	0.528000	0.53228	AGG		0.577	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		19	48	0	0	0	0.557998	0	19	48				
MBD6	114785	broad.mit.edu	37	12	57919484	57919484	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57919484C>T	ENST00000355673.3	+	6	1089	c.733C>T	c.(733-735)Cct>Tct	p.P245S	MBD6_ENST00000431731.2_Missense_Mutation_p.P245S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	245	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGCTCTCCTCCGGCCCC	0.612																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(733-735)Cct>Tct		methyl-CpG binding domain protein 6							132.0	154.0	147.0					12																	57919484		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919484C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.733C>T	12.37:g.57919484C>T	ENSP00000347896:p.Pro245Ser					MBD6_ENST00000431731.2_Missense_Mutation_p.P245S	p.P245S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1089	+			245			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.733C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361878	0.24684	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.1	1.15	0.20763	.	0.730153	0.10118	U	0.713727	T	0.20088	0.0483	N	0.08118	0	0.29836	N	0.829619	B;B	0.15141	0.012;0.012	B;B	0.15484	0.013;0.013	T	0.31364	-0.9946	8	.	.	.	-0.495	6.5172	0.22254	0.0:0.7361:0.0:0.2639	.	245;245	Q6P0P0;Q96DN6	.;MBD6_HUMAN	S	245	.	.	P	+	1	0	MBD6	56205751	0.863000	0.29885	0.987000	0.45799	0.842000	0.47809	0.455000	0.21843	0.290000	0.22444	0.444000	0.29173	CCT		0.612	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			4	226	0	0	0	0.150653	0	4	226				
FLG2	388698	broad.mit.edu	37	1	152328852	152328852	+	Silent	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:152328852C>T	ENST00000388718.5	-	3	1482	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	470	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCTAGACCCATGCTGGT	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1408-1410)ggG>ggA		filaggrin family member 2							195.0	190.0	191.0					1																	152328852		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328852C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1410G>A	1.37:g.152328852C>T						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G470G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		470			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1410G>A	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	145	0	0	0	0.248553	0	6	145				
CHEK2	11200	broad.mit.edu	37	22	29091784	29091784	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr22:29091784C>A	ENST00000405598.1	-	12	1364	c.1173G>T	c.(1171-1173)ttG>ttT	p.L391F	CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000544772.1_Missense_Mutation_p.L170F|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F|CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTCAGGCGCCAAGTAGGTGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(508-510)ttG>ttT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							56.0	57.0	57.0					22																	29091784		2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091784C>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1173G>T	22.37:g.29091784C>A	ENSP00000386087:p.Leu391Phe					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.L391F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F	p.L170F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1946	-			391			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.510G>T	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134212|4.134212	0.77662|0.77662	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.53206|.	0.94;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.94|.	5.73|5.73	4.72|4.72	0.59763|0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.067121|.	0.64402|.	D|.	0.000013|.	T|T	0.52613|0.52613	0.1745|0.1745	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D|.	0.80764|.	0.989;0.985;0.994;0.992;0.981;0.955|.	T|T	0.44667|0.44667	-0.9313|-0.9313	10|5	0.72032|.	D|.	0.01|.	-23.1802|-23.1802	8.7579|8.7579	0.34656|0.34656	0.1617:0.7588:0.0:0.0795|0.1617:0.7588:0.0:0.0795	.|.	300;170;391;362;391;434|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	F|L	362;300;170;391;391;391;434;300;362|135	ENSP00000329012:L362F;ENSP00000372021:L300F;ENSP00000442458:L170F;ENSP00000329178:L391F;ENSP00000385747:L391F;ENSP00000386087:L391F;ENSP00000372023:L434F;ENSP00000384919:L300F;ENSP00000384835:L362F|.	ENSP00000329178:L391F|.	L|W	-|-	3|2	2|0	CHEK2|CHEK2	27421784|27421784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.009000|2.009000	0.40903|0.40903	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		26	14	1	0	4.87955e-14	0.693898	5.85547e-14	26	14				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	106	0	0	0	0.870114	0	55	106				
ITGA10	8515	broad.mit.edu	37	1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:145534935G>A	ENST00000369304.3	+	15	2013	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577																																						ENST00000369304.3																			1	Substitution - Missense(1)	p.R613Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1837-1839)cGa>cAa		integrin, alpha 10							181.0	151.0	161.0					1																	145534935		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534935G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1838G>A	1.37:g.145534935G>A	ENSP00000358310:p.Arg613Gln					ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	p.R613Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			15	2013	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		613					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1838G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916809	0.52546	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55588	0.51;0.51;0.51	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	T	0.18467	0.0443	N	0.13140	0.3	0.58432	D	0.999999	B;B;D;B	0.54047	0.421;0.132;0.964;0.072	B;B;P;B	0.44623	0.126;0.043;0.455;0.027	T	0.05920	-1.0856	10	0.07482	T	0.82	.	10.8941	0.47012	0.0923:0.0:0.9077:0.0	.	579;482;470;613	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	613;579;470;482	ENSP00000358310:R613Q;ENSP00000439894:R470Q;ENSP00000440011:R482Q	ENSP00000358310:R613Q	R	+	2	0	ITGA10	144246292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.542000	0.85734	0.609000	0.83330	CGA		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		33	73	0	0	0	0.769981	0	33	73				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	129	0	0	0	0.150653	0	3	129				
INTS4L1	285905	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T	rs201003787	byFrequency	TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr7:64639752A>T	ENST00000587624.1	+	0	635							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATTTCCTAGTTGACATGT	0.443																																						ENST00000587624.1																			0																																																			0							g.chr7:64639752A>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64639752A>T														0	635	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.443	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		4	20	0	0	0	0.307466	0	4	20				
C1orf112	55732	broad.mit.edu	37	1	169811624	169811624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:169811624C>T	ENST00000286031.6	+	18	2492	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	598										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACAGGAAAACAAACTGCAAT	0.368																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1792-1794)Caa>Taa		chromosome 1 open reading frame 112							155.0	146.0	149.0					1																	169811624		2203	4300	6503	SO:0001587	stop_gained	55732							g.chr1:169811624C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1792C>T	1.37:g.169811624C>T	ENSP00000286031:p.Gln598*					C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*|C1orf112_ENST00000498289.1_3'UTR	p.Q598*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			18	2492	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		598					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	c.1792C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	44	10.545720	0.99425	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	.	.	.	5.18	5.18	0.71444	.	0.292643	0.38720	N	0.001595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8983	15.8076	0.78527	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000286031:Q598X	Q	+	1	0	C1orf112	168078248	0.175000	0.23083	0.686000	0.30086	0.748000	0.42578	2.225000	0.42954	2.572000	0.86782	0.655000	0.94253	CAA		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		26	59	0	0	0	0.667858	0	26	59				
ICAM3	3385	broad.mit.edu	37	19	10449575	10449575	+	Silent	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr19:10449575C>T	ENST00000160262.5	-	2	334	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	42					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGCAGAGAGCACAGGGTTCT	0.552																																						ENST00000160262.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(124-126)gtG>gtA		intercellular adhesion molecule 3							63.0	65.0	65.0					19																	10449575		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10449575C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.126G>A	19.37:g.10449575C>T						ICAM3_ENST00000589261.1_5'UTR	p.V42V	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		2	334	-			42					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.126G>A	CCDS12235.1																																																																																				0.552	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			22	37	0	0	0	0.624587	0	22	37				
C6orf211	79624	broad.mit.edu	37	6	151779565	151779565	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:151779565G>C	ENST00000367294.3	+	3	509	c.250G>C	c.(250-252)Gat>Cat	p.D84H	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	84										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GAAATTTGTTGATACTGATAT	0.363																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(250-252)Gat>Cat		chromosome 6 open reading frame 211							97.0	99.0	98.0					6																	151779565		2203	4299	6502	SO:0001583	missense	79624						protein binding	g.chr6:151779565G>C	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.250G>C	6.37:g.151779565G>C	ENSP00000356263:p.Asp84His					C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	p.D84H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	3	509	+			84					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.250G>C	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881373	0.51801	.	.	ENSG00000146476	ENST00000367294	T	0.07444	3.19	5.69	5.69	0.88448	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31861	-0.9928	10	0.87932	D	0	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	84	Q9H993	CF211_HUMAN	H	84	ENSP00000356263:D84H	ENSP00000356263:D84H	D	+	1	0	C6orf211	151821258	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	9.869000	0.99810	2.691000	0.91804	0.563000	0.77884	GAT		0.363	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		29	50	0	0	0	0.729181	0	29	50				
THBS2	7058	broad.mit.edu	37	6	169637364	169637364	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:169637364G>A	ENST00000366787.3	-	10	1627	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	460	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGACGGATGCGTGTGATATTG	0.607																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1378-1380)Cgc>Tgc		thrombospondin 2							69.0	66.0	67.0					6																	169637364		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637364G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1378C>T	6.37:g.169637364G>A	ENSP00000355751:p.Arg460Cys					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.R460C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	10	1627	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	460			TSP type-1 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1378C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464989	0.43839	.	.	ENSG00000186340	ENST00000366787	T	0.80909	-1.43	4.07	3.16	0.36331	.	0.000000	0.41194	U	0.000936	D	0.92172	0.7518	H	0.98996	4.395	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.94092	0.7354	10	0.87932	D	0	-48.1646	12.9305	0.58284	0.0:0.0:0.8362:0.1638	.	460	P35442	TSP2_HUMAN	C	460	ENSP00000355751:R460C	ENSP00000355751:R460C	R	-	1	0	THBS2	169379289	1.000000	0.71417	0.200000	0.23457	0.143000	0.21401	4.798000	0.62510	0.773000	0.33404	0.558000	0.71614	CGC		0.607	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		23	25	0	0	0	0.608945	0	23	25				
HTR3A	3359	broad.mit.edu	37	11	113853948	113853948	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:113853948A>G	ENST00000504030.2	+	5	926	c.481A>G	c.(481-483)Atc>Gtc	p.I161V	HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	161					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TAGCCTCGACATCTACAACTT	0.547																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(481-483)Atc>Gtc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						210.0	191.0	197.0					11																	113853948		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853948A>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.481A>G	11.37:g.113853948A>G	ENSP00000424189:p.Ile161Val					HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V	p.I161V			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	926	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	161					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.481A>G		.	.	.	.	.	.	.	.	.	.	A	20.5	4.003616	0.74932	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.39	5.39	0.77823	.	0.048867	0.85682	D	0.000000	T	0.67979	0.2951	N	0.20483	0.58	0.80722	D	1	P;P;P	0.50617	0.937;0.712;0.937	P;B;P	0.49276	0.605;0.279;0.605	T	0.67039	-0.5771	10	0.02654	T	1	-34.4885	15.4143	0.74952	1.0:0.0:0.0:0.0	.	146;167;167	B4DSY6;G5E986;Q7KZM7	.;.;.	V	161;167;167;161;146	ENSP00000424189:I161V;ENSP00000347754:I167V;ENSP00000364648:I167V;ENSP00000424776:I161V;ENSP00000299961:I146V	ENSP00000299961:I146V	I	+	1	0	HTR3A	113359158	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.283000	0.95860	2.048000	0.60808	0.454000	0.30748	ATC		0.547	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		9	142	0	0	0	0.307466	0	9	142				
NOMO1	23420	broad.mit.edu	37	16	14958553	14958553	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:14958553G>T	ENST00000287667.7	+	13	1678	c.1507G>T	c.(1507-1509)Gca>Tca	p.A503S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	503						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ACAGTTCTTGGCATCAGTTTC	0.468																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(1507-1509)Gca>Tca		NODAL modulator 1							182.0	177.0	179.0					16																	14958553		2194	4299	6493	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14958553G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1507G>T	16.37:g.14958553G>T	ENSP00000287667:p.Ala503Ser						p.A503S	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			13	1678	+			503					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1507G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.469630	0.63625	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.05258	3.47	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	M	0.77103	2.36	0.58432	D	0.999999	D	0.62365	0.991	P	0.58210	0.835	T	0.04723	-1.0931	10	0.27082	T	0.32	-16.4363	12.3445	0.55114	0.0:0.0:1.0:0.0	.	503	Q15155	NOMO1_HUMAN	S	503;503;336	ENSP00000287667:A503S	ENSP00000287667:A503S	A	+	1	0	NOMO1	14866054	1.000000	0.71417	0.799000	0.32177	0.923000	0.55619	6.538000	0.73852	1.780000	0.52325	0.392000	0.25879	GCA		0.468	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			63	151	1	0	1.49723e-40	0.870114	1.87154e-40	63	151				
PPCS	79717	broad.mit.edu	37	1	42925432	42925432	+	Silent	SNP	T	T	C			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:42925432T>C	ENST00000372561.3	+	3	778	c.771T>C	c.(769-771)gcT>gcC	p.A257A	PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	257					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGGTGGCTAATATCCTTG	0.398																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(769-771)gcT>gcC		phosphopantothenoylcysteine synthetase							127.0	120.0	122.0					1																	42925432		1873	4111	5984	SO:0001819	synonymous_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925432T>C	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.771T>C	1.37:g.42925432T>C						PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR	p.A257A	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			3	778	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	257					Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	c.771T>C	CCDS41311.1																																																																																				0.398	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		3	137	0	0	0	0.115264	0	3	137				
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:65016141C>A	ENST00000268603.4	-	8	1678	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CDH11_ENST00000394156.3_Missense_Mutation_p.D355Y|CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1063-1065)Gac>Tac		cadherin 11, type 2, OB-cadherin (osteoblast)							135.0	107.0	116.0					16																	65016141		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016141C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1063G>T	16.37:g.65016141C>A	ENSP00000268603:p.Asp355Tyr	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y|CDH11_ENST00000268603.4_Missense_Mutation_p.D355Y	p.D355Y			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1516	-		Ovarian(137;0.0973)	355			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1063G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663470	0.88251	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.20200	2.09;2.09	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	T	0.70908	-0.4744	10	0.66056	D	0.02	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	355;355	P55287-2;P55287	.;CAD11_HUMAN	Y	355;355;338	ENSP00000268603:D355Y;ENSP00000377711:D355Y	ENSP00000268603:D355Y	D	-	1	0	CDH11	63573642	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.370000	0.79589	2.813000	0.96785	0.655000	0.94253	GAC		0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		29	47	1	0	9.39395e-14	0.706142	1.08392e-13	29	47				
PTPN2	5771	broad.mit.edu	37	18	12817199	12817199	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr18:12817199C>A	ENST00000309660.5	-	6	754	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	221	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCAGAGCGCCCAATGCCTGCA	0.423																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(661-663)Ggg>Tgg		protein tyrosine phosphatase, non-receptor type 2							98.0	102.0	101.0					18																	12817199		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12817199C>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.661G>T	18.37:g.12817199C>A	ENSP00000311857:p.Gly221Trp					PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W|PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W	p.G221W	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			6	754	-		Lung NSC(161;8.94e-06)	221			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.661G>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772177	0.90108	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.87729	-2.29;-2.29;-2.29	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000041	D	0.97105	0.9054	H	0.99863	4.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	221;221;198;221;221	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	W	221;221;198;221	ENSP00000320298:G221W;ENSP00000320546:G221W;ENSP00000311857:G221W	ENSP00000311857:G221W	G	-	1	0	PTPN2	12807199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.744000	0.85034	2.447000	0.82792	0.591000	0.81541	GGG		0.423	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		4	115	1	0	0.150653	0.150653	0.155848	4	115				
C16orf91	283951	broad.mit.edu	37	16	1470345	1470345	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:1470345C>T	ENST00000442039.2	-	2	377	c.301G>A	c.(301-303)Gcg>Acg	p.A101T	C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000310355.1_Missense_Mutation_p.A258T	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	101						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACTGGTCCGCCTCGCTCTCC	0.617																																						ENST00000310355.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)Gcg>Acg		chromosome 16 open reading frame 91							109.0	112.0	111.0					16																	1470345		2199	4300	6499	SO:0001583	missense	283951					integral to membrane		g.chr16:1470345C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.301G>A	16.37:g.1470345C>T	ENSP00000413100:p.Ala101Thr					C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000442039.2_Missense_Mutation_p.A101T	p.A258T			Q4G0I0	CSMT1_HUMAN			4	771	-			101					Q96RZ0	Missense_Mutation	SNP	ENST00000442039.2	37	c.772G>A		.	.	.	.	.	.	.	.	.	.	C	6.098	0.386317	0.11524	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	5.31	-10.6	0.00265	.	1.740200	0.03635	N	0.238596	T	0.23649	0.0572	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12837	-1.0532	8	0.44086	T	0.13	-0.1853	5.7385	0.18079	0.1804:0.5903:0.0909:0.1385	.	101	Q4G0I0	CSMT1_HUMAN	T	101;258	.	ENSP00000311390:A258T	A	-	1	0	C16orf91	1410346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.631000	0.00871	-2.359000	0.00611	-0.982000	0.02568	GCG		0.617	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		41	73	0	0	0	0.864702	0	41	73				
OR6F1	343169	broad.mit.edu	37	1	247875916	247875916	+	Silent	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:247875916A>G	ENST00000302084.2	-	1	189	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGCTCACCAACATCAAGATA	0.473																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(142-144)Ttg>Ctg		olfactory receptor, family 6, subfamily F, member 1							140.0	136.0	137.0					1																	247875916		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875916A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.142T>C	1.37:g.247875916A>G						RP11-634B7.4_ENST00000449298.1_RNA	p.L48L	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	189	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		48					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.142T>C	CCDS31095.1																																																																																				0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		9	113	0	0	0	0.307466	0	9	113				
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
