#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
PALMD	54873	broad.mit.edu	37	1	100154340	100154340	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:100154340C>T	ENST00000263174.4	+	7	899	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PALMD_ENST00000605497.1_Missense_Mutation_p.A175V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	175					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GCTTTATATGCCATGGAAATT	0.299																																						uc001dsg.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(523-525)gCc>gTc		Homo sapiens palmdelphin (PALMD), mRNA.							49.0	56.0	54.0					1																	100154340		2199	4299	6498	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154340C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.524C>T	1.37:g.100154340C>T	ENSP00000263174:p.Ala175Val						p.A175V	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	6	967	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	175					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.524C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122609	0.77436	.	.	ENSG00000099260	ENST00000263174	T	0.25749	1.78	5.59	5.59	0.84812	.	0.165900	0.52532	D	0.000069	T	0.40546	0.1121	M	0.70275	2.135	0.49299	D	0.999775	P;P	0.52692	0.955;0.944	P;P	0.57204	0.815;0.719	T	0.31223	-0.9951	10	0.87932	D	0	-6.0025	19.6045	0.95575	0.0:1.0:0.0:0.0	.	175;95	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	V	175	ENSP00000263174:A175V	ENSP00000263174:A175V	A	+	2	0	PALMD	99926928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.094000	0.64523	2.620000	0.88729	0.563000	0.77884	GCC		0.299	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		18	49	0	0	0	1	0	18	49				
PIAS3	10401	broad.mit.edu	37	1	145578441	145578441	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:145578441A>G	ENST00000393045.2	+	2	494	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	PIAS3_ENST00000369298.1_Missense_Mutation_p.Y100C|PIAS3_ENST00000369299.3_Missense_Mutation_p.Y126C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	135	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGCCCTTCTATGAAGTCTAT	0.582																																						uc001eoc.1																			0		p.R134W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(403-405)tAt>tGt		Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.							111.0	112.0	112.0					1																	145578441		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578441A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.404A>G	1.37:g.145578441A>G	ENSP00000376765:p.Tyr135Cys					PIAS3_uc010oyy.1_Missense_Mutation_p.Y126C|PIAS3_uc001eod.1_5'Flank	p.Y135C	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			1	495	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		135			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.404A>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743814	0.69418	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	3.79	3.79	0.43588	PINIT domain (1);	0.159499	0.28895	N	0.013785	T	0.79616	0.4476	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82676	-0.0339	10	0.87932	D	0	-6.7353	10.545	0.45056	1.0:0.0:0.0:0.0	.	126;135	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	C	126;126;135;100	ENSP00000376766:Y126C;ENSP00000358305:Y126C;ENSP00000376765:Y135C;ENSP00000358304:Y100C	ENSP00000358304:Y100C	Y	+	2	0	PIAS3	144289798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	1.584000	0.49913	0.459000	0.35465	TAT		0.582	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		19	219	0	0	0	1	0	19	219				
IGF2R	3482	broad.mit.edu	37	6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:160464296G>A	ENST00000356956.1	+	12	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	533					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGGTGTCCCGAGGACGCGGC	0.493																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1597-1599)Gag>Aag		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							129.0	121.0	124.0					6																	160464296		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464296G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1597G>A	6.37:g.160464296G>A	ENSP00000349437:p.Glu533Lys						p.E533K	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	11	1745	+		Breast(66;0.000777)|Ovarian(120;0.0305)	533					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1597G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435154	0.43224	.	.	ENSG00000197081	ENST00000356956	T	0.03635	3.86	5.52	2.79	0.32731	Mannose-6-phosphate receptor, binding (1);	0.341501	0.33199	N	0.005179	T	0.02012	0.0063	M	0.84948	2.725	0.09310	N	0.999996	B	0.23377	0.084	B	0.17979	0.02	T	0.44997	-0.9291	10	0.25751	T	0.34	-16.9673	7.2416	0.26100	0.1937:0.1256:0.6806:0.0	.	533	P11717	MPRI_HUMAN	K	533	ENSP00000349437:E533K	ENSP00000349437:E533K	E	+	1	0	IGF2R	160384286	0.981000	0.34729	0.005000	0.12908	0.012000	0.07955	3.982000	0.56909	0.302000	0.22762	0.655000	0.94253	GAG		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		60	133	0	0	0	1	0	60	133				
BDKRB2	624	broad.mit.edu	37	14	96706966	96706966	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr14:96706966G>A	ENST00000306005.3	+	3	497	c.301G>A	c.(301-303)Gca>Aca	p.A101T	BDKRB2_ENST00000539359.1_Missense_Mutation_p.A74T|BDKRB2_ENST00000542454.2_Missense_Mutation_p.A74T|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.A101T	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	101					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GAACCTGGCCGCAGCAGACCT	0.607																																						uc010avm.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(301-303)Gca>Aca		Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.							104.0	105.0	104.0					14																	96706966		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706966G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.301G>A	14.37:g.96706966G>A	ENSP00000307713:p.Ala101Thr					BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A74T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A101T	p.A101T	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	2	497	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	101						Missense_Mutation	SNP	ENST00000306005.3	37	c.301G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726982	0.48833	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.68	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.460243	0.23250	N	0.050247	T	0.46795	0.1411	L	0.52266	1.64	0.09310	N	1	D	0.67145	0.996	P	0.60236	0.871	T	0.39014	-0.9634	10	0.87932	D	0	-1.5151	11.2972	0.49284	0.0:0.352:0.5116:0.1364	.	101	P30411	BKRB2_HUMAN	T	74;101;101;74	ENSP00000439459:A74T;ENSP00000450482:A101T;ENSP00000307713:A101T;ENSP00000438376:A74T	ENSP00000307713:A101T	A	+	1	0	BDKRB2	95776719	0.000000	0.05858	0.004000	0.12327	0.620000	0.37586	0.392000	0.20801	0.128000	0.18479	-0.305000	0.09177	GCA		0.607	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			4	241	0	0	0	1	0	4	241				
AQP5	362	broad.mit.edu	37	12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	rs117761535		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:50357924C>T	ENST00000293599.6	+	3	726	c.578C>T	c.(577-579)gCg>gTg	p.A193V	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	193					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TTTGGCCCTGCGGTGGTCATG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18160	0.001		0.0	False		,,,				2504	0.0					uc001rvo.2																			0				large_intestine(1)|lung(3)	4						c.(577-579)gCg>gTg		Homo sapiens aquaporin 5 (AQP5), mRNA.		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	123.0	102.0	109.0		578	5.1	0.6	12	dbSNP_132	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	AQP5	NM_001651.2	64	0,12,6491	TT,TC,CC		0.1047,0.0681,0.0923	benign	193/266	50357924	12,12994	2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357924C>T	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.578C>T	12.37:g.50357924C>T	ENSP00000293599:p.Ala193Val						p.A193V	NM_001651	NP_001642	P55064	AQP5_HUMAN			2	1100	+			193					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.578C>T	CCDS8793.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.55	3.418038	0.62622	6.81E-4	0.001047	ENSG00000161798	ENST00000293599	D	0.94232	-3.38	5.07	5.07	0.68467	Aquaporin-like (2);	0.336630	0.24289	N	0.039838	D	0.97548	0.9197	H	0.97291	3.975	0.49798	D	0.99982	D	0.76494	0.999	P	0.58577	0.841	D	0.98776	1.0730	10	0.66056	D	0.02	-0.1821	16.3242	0.82965	0.0:1.0:0.0:0.0	.	193	P55064	AQP5_HUMAN	V	193	ENSP00000293599:A193V	ENSP00000293599:A193V	A	+	2	0	AQP5	48644191	1.000000	0.71417	0.626000	0.29213	0.305000	0.27757	6.635000	0.74295	2.518000	0.84900	0.655000	0.94253	GCG		0.612	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		44	91	0	0	0	1	0	44	91				
TERT	7015	broad.mit.edu	37	5	1293592	1293592	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:1293592C>T	ENST00000310581.5	-	2	1466	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TERT_ENST00000334602.6_Missense_Mutation_p.R470H|TERT_ENST00000296820.5_Missense_Mutation_p.R470H|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000508104.2_Missense_Mutation_p.R470H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	470	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CACCAGCCGGCGCAGGCAGGC	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1408-1410)cGc>cAc		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							14.0	16.0	15.0					5																	1293592		2173	4287	6460	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1293592C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1409G>A	5.37:g.1293592C>T	ENSP00000309572:p.Arg470His					TERT_uc003jcc.1_Missense_Mutation_p.R470H|TERT_uc003jca.1_Missense_Mutation_p.R470H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	p.R470H	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	1467	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		470			QFP motif.|RNA-interacting domain 2.|Required for oligomerization.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1409G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177311	0.06380	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.46	-0.392	0.12442	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	1.488820	0.03441	N	0.209276	T	0.79997	0.4543	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.003	B;B;B	0.12156	0.001;0.007;0.001	T	0.62737	-0.6791	10	0.45353	T	0.12	-11.5511	4.3911	0.11341	0.1758:0.1758:0.0:0.6484	.	470;470;470	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	470	ENSP00000309572:R470H;ENSP00000296820:R470H;ENSP00000334346:R470H;ENSP00000426042:R470H	ENSP00000296820:R470H	R	-	2	0	TERT	1346592	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.010000	0.13242	-0.021000	0.14009	-0.321000	0.08615	CGC		0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	7	0	0	0	1	0	5	7				
UQCRC1	7384	broad.mit.edu	37	3	48637950	48637950	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:48637950T>A	ENST00000203407.5	-	10	1594	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	393					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGAGGATGTTTTTGCCCCG	0.567																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1177-1179)aAc>aTc		Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	Atovaquone(DB01117)						95.0	84.0	88.0					3																	48637950		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637950T>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1178A>T	3.37:g.48637950T>A	ENSP00000203407:p.Asn393Ile						p.N393I	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1223	-			393					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1178A>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990791	0.93106	.	.	ENSG00000010256	ENST00000203407	T	0.09817	2.94	5.81	5.81	0.92471	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.08576	-1.0715	10	0.59425	D	0.04	-41.7776	16.1641	0.81743	0.0:0.0:0.0:1.0	.	278;393	B4DUL5;P31930	.;QCR1_HUMAN	I	393	ENSP00000203407:N393I	ENSP00000203407:N393I	N	-	2	0	UQCRC1	48612954	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.181000	0.71988	2.225000	0.72522	0.379000	0.24179	AAC		0.567	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		33	57	0	0	0	1	0	33	57				
NLRC3	197358	broad.mit.edu	37	16	3614041	3614041	+	RNA	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:3614041C>T	ENST00000301749.7	-	0	1302				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAACATCTGCTCCAAACACA	0.627																																						uc010btn.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(895-897)gaG>gaA		Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.							48.0	55.0	52.0					16																	3614041		2070	4205	6275			197358				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding	g.chr16:3614041C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614041C>T							p.E299E	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			4	1308	-			299			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.897G>A																																																																																					0.627	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	78	0	0	0	1	0	5	78				
AKNAD1	254268	broad.mit.edu	37	1	109394761	109394761	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:109394761T>C	ENST00000370001.3	-	2	794	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.R176G|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R176G	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	176						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACCATCCCTTTTCGGGTTG	0.423																																						uc001dwa.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(526-528)Agg>Ggg		Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.							62.0	64.0	64.0					1																	109394761		2202	4296	6498	SO:0001583	missense	254268							g.chr1:109394761T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.526A>G	1.37:g.109394761T>C	ENSP00000359018:p.Arg176Gly					AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	p.R176G	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			1	795	-			176					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.526A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595772	0.28445	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.08546	3.1;3.13;3.08	5.77	3.48	0.39840	.	1.154570	0.06009	N	0.649165	T	0.03053	0.0090	L	0.44542	1.39	0.09310	N	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.45264	-0.9273	10	0.36615	T	0.2	0.1509	9.7276	0.40342	0.0:0.141:0.0:0.859	.	176	Q5T1N1	AKND1_HUMAN	G	176	ENSP00000359018:R176G;ENSP00000359011:R176G;ENSP00000359012:R176G	ENSP00000359011:R176G	R	-	1	2	AKNAD1	109196284	0.040000	0.19996	0.001000	0.08648	0.017000	0.09413	1.687000	0.37680	0.468000	0.27243	0.533000	0.62120	AGG		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		3	109	0	0	0	1	0	3	109				
C7orf33	202865	broad.mit.edu	37	7	148288066	148288066	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:148288066C>A	ENST00000307003.2	+	1	410	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	17										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCCTGGAGACTTCCAGGCCC	0.567																																						uc003wew.3																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(49-51)Ctt>Att		Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.							61.0	60.0	61.0					7																	148288066		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288066C>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.49C>A	7.37:g.148288066C>A	ENSP00000304071:p.Leu17Ile						p.L17I	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		0	410	+	Melanoma(164;0.15)		17						Missense_Mutation	SNP	ENST00000307003.2	37	c.49C>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403520	0.25291	.	.	ENSG00000170279	ENST00000307003	.	.	.	3.44	-3.72	0.04411	.	.	.	.	.	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.38755	0.281	T	0.24512	-1.0158	8	0.87932	D	0	.	10.182	0.42975	0.0:0.6825:0.0:0.3175	.	17	Q8WU49	CG033_HUMAN	I	17	.	ENSP00000304071:L17I	L	+	1	0	C7orf33	147918999	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.383000	0.07398	-0.562000	0.06086	0.467000	0.42956	CTT		0.567	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		24	65	0	0	0	1	0	24	65				
NFAT5	10725	broad.mit.edu	37	16	69727910	69727910	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:69727910A>T	ENST00000354436.2	+	12	4446	c.4128A>T	c.(4126-4128)ttA>ttT	p.L1376F	NFAT5_ENST00000393742.2_Missense_Mutation_p.L1300F|NFAT5_ENST00000567239.1_Missense_Mutation_p.L1393F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L1394F|NFAT5_ENST00000349945.1_Missense_Mutation_p.L1300F|NFAT5_ENST00000566899.1_Missense_Mutation_p.L1300F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1376					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTCTTCTTATCTCCAGCAT	0.453																																						uc002exl.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(4180-4182)ttA>ttT		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							142.0	116.0	125.0					16																	69727910		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727910A>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4128A>T	16.37:g.69727910A>T	ENSP00000346420:p.Leu1376Phe					NFAT5_uc002exj.2_Missense_Mutation_p.L1300F|NFAT5_uc002exk.2_Missense_Mutation_p.L1300F|NFAT5_uc002exn.2_Missense_Mutation_p.L1393F|NFAT5_uc002exm.2_Missense_Mutation_p.L1376F|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.L1300F	p.L1394F	NM_138713	NP_775322	O94916	NFAT5_HUMAN			12	4518	+			1376					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.4182A>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589633	0.28357	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.69	-1.49	0.08718	.	0.214986	0.43260	D	0.000598	T	0.27419	0.0673	L	0.34521	1.04	0.33012	D	0.527594	P;B;B	0.43477	0.808;0.435;0.435	B;B;B	0.32864	0.154;0.055;0.055	T	0.28808	-1.0032	10	0.54805	T	0.06	-1.9392	2.5239	0.04687	0.1281:0.371:0.3108:0.1902	.	1393;1376;1394	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	1394;1393;1300;1376;1300	ENSP00000396538:L1394F;ENSP00000338806:L1300F;ENSP00000346420:L1376F;ENSP00000377343:L1300F	ENSP00000338806:L1300F	L	+	3	2	NFAT5	68285411	0.961000	0.32948	0.966000	0.40874	0.978000	0.69477	-0.199000	0.09491	-0.513000	0.06496	-0.331000	0.08364	TTA		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		29	61	0	0	0	1	0	29	61				
PPP2R1A	5518	broad.mit.edu	37	19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:52719042C>T	ENST00000322088.6	+	7	876	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma																																	uc002pyp.3				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(817-819)gCa>gTa		Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.							60.0	59.0	60.0					19																	52719042		2203	4300	6503	SO:0001583	missense	5518				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719042C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.818C>T	19.37:g.52719042C>T	ENSP00000324804:p.Ala273Val					PPP2R1A_uc010ydk.2_Missense_Mutation_p.A218V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A313V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A94V	p.A273V	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	1113	+			273			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.818C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975313	0.74360	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.04234	3.67;3.67	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.07818	0.0196	M	0.71581	2.175	0.80722	D	1	P;B;B	0.40144	0.704;0.012;0.012	B;B;B	0.33196	0.159;0.007;0.007	T	0.10753	-1.0616	10	0.49607	T	0.09	-6.7782	15.501	0.75698	0.0:1.0:0.0:0.0	.	218;273;273	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	263;193;273;218	ENSP00000324804:A273V;ENSP00000415067:A218V	ENSP00000324804:A273V	A	+	2	0	PPP2R1A	57410854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.595000	0.87683	0.655000	0.94253	GCA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		29	69	0	0	0	1	0	29	69				
YTHDC1	91746	broad.mit.edu	37	4	69197877	69197877	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:69197877T>C	ENST00000344157.4	-	7	1401	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R356G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R338G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	356	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGGAAAAATCTTGCATCTTGA	0.343																																						uc003hdx.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1066-1068)Aga>Gga		Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.							117.0	109.0	112.0					4																	69197877		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69197877T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1066A>G	4.37:g.69197877T>C	ENSP00000339245:p.Arg356Gly					YTHDC1_uc003hdy.3_Missense_Mutation_p.R338G	p.R356G	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			6	1419	-			356			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1066A>G	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220858	0.39201	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.37584	1.19;1.19	5.37	5.37	0.77165	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.83275	0.981;0.996	T	0.77135	-0.2699	10	0.87932	D	0	.	12.7796	0.57469	0.0:0.0:0.1363:0.8637	.	338;356	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	G	356;338	ENSP00000339245:R356G;ENSP00000347888:R338G	ENSP00000339245:R356G	R	-	1	2	YTHDC1	68880472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.576000	0.53878	2.155000	0.67459	0.528000	0.53228	AGA		0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		21	73	0	0	0	1	0	21	73				
PHOX2A	401	broad.mit.edu	37	11	71950915	71950915	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr11:71950915C>T	ENST00000298231.5	-	3	904	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	245	Poly-Gly.				dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCGCTCCCGCGCCAGGCCCG	0.771																																						uc001osh.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						c.(733-735)Gcg>Acg		Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.							2.0	2.0	2.0					11																	71950915		1018	2484	3502	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71950915C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.733G>A	11.37:g.71950915C>T	ENSP00000298231:p.Ala245Thr						p.A245T	NM_005169	NP_005160	O14813	PHX2A_HUMAN			2	905	-			245			Poly-Gly.		A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.733G>A	CCDS8214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.172|9.172	1.021274|1.021274	0.19433|0.19433	.|.	.|.	ENSG00000165462|ENSG00000165462	ENST00000298231|ENST00000546310	D|.	0.89810|.	-2.57|.	4.93|4.93	0.664|0.664	0.17890|0.17890	.|.	0.327791|.	0.22040|.	N|.	0.065465|.	T|T	0.09598|0.09598	0.0236|0.0236	N|N	0.03608|0.03608	-0.345|-0.345	0.23727|0.23727	N|N	0.997004|0.997004	B|.	0.21147|.	0.052|.	B|.	0.08055|.	0.003|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.16420|.	T|.	0.52|.	.|.	1.3349|1.3349	0.02142|0.02142	0.1383:0.3512:0.2698:0.2407|0.1383:0.3512:0.2698:0.2407	.|.	245|.	O14813|.	PHX2A_HUMAN|.	T|H	245|45	ENSP00000298231:A245T|.	ENSP00000298231:A245T|.	A|R	-|-	1|2	0|0	PHOX2A|PHOX2A	71628563|71628563	0.798000|0.798000	0.28890|0.28890	0.913000|0.913000	0.36048|0.36048	0.107000|0.107000	0.19398|0.19398	-0.188000|-0.188000	0.09642|0.09642	-0.149000|-0.149000	0.11215|0.11215	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.771	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		3	8	0	0	0	1	0	3	8				
RBM12B	389677	broad.mit.edu	37	8	94747584	94747584	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:94747584G>A	ENST00000399300.2	-	3	1268	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.P352L|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	352	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATATGAACTGGACGATATTG	0.363																																						uc003yfz.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1054-1056)cCa>cTa		Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.							94.0	91.0	92.0					8																	94747584		1849	4091	5940	SO:0001583	missense	389677						RNA binding|nucleotide binding	g.chr8:94747584G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1055C>T	8.37:g.94747584G>A	ENSP00000382239:p.Pro352Leu					RBM12B_uc022aye.1_Missense_Mutation_p.P352L	p.P352L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	1248	-	Breast(36;4.14e-07)		352			RRM 2.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1055C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795403	0.16327	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08370	3.1;3.1	5.26	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.183144	0.39020	N	0.001486	T	0.13072	0.0317	L	0.40543	1.245	0.37015	D	0.895919	D	0.57257	0.979	P	0.54759	0.76	T	0.16041	-1.0416	10	0.14656	T	0.56	-14.8186	13.833	0.63393	0.0:0.0:0.7058:0.2942	.	352	Q8IXT5	RB12B_HUMAN	L	352	ENSP00000382239:P352L;ENSP00000427729:P352L	ENSP00000382239:P352L	P	-	2	0	RBM12B	94816760	0.941000	0.31946	1.000000	0.80357	0.975000	0.68041	1.579000	0.36536	2.614000	0.88457	0.591000	0.81541	CCA		0.363	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		18	42	0	0	0	1	0	18	42				
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A	rs370489054		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmu.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1198-1200)taC>taT		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	87.0	88.0	88.0		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A						ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	p.Y400Y	NM_004723	NP_004714	Q92974	ARHG2_HUMAN			12	1455	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1200C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		4	128	0	0	0	1	0	4	128				
ATP1A4	480	broad.mit.edu	37	1	160124992	160124992	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:160124992C>T	ENST00000368081.4	+	3	836	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	122					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTTTGTGGCCTACAGCATC	0.517																																						uc001fve.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(364-366)gCc>gTc		Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.							63.0	58.0	60.0					1																	160124992		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124992C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.365C>T	1.37:g.160124992C>T	ENSP00000357060:p.Ala122Val					ATP1A4_uc001fvf.4_Non-coding_Transcript	p.A122V	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	844	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		122					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.365C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735462	0.49045	.	.	ENSG00000132681	ENST00000368081	D	0.93906	-3.31	4.25	4.25	0.50352	ATPase, P-type cation-transporter, N-terminal (1);	0.061528	0.64402	D	0.000006	D	0.96074	0.8721	M	0.90019	3.08	0.80722	D	1	D	0.71674	0.998	P	0.59546	0.859	D	0.96709	0.9524	10	0.87932	D	0	.	14.1868	0.65609	0.0:1.0:0.0:0.0	.	122	Q13733	AT1A4_HUMAN	V	122	ENSP00000357060:A122V	ENSP00000357060:A122V	A	+	2	0	ATP1A4	158391616	1.000000	0.71417	0.992000	0.48379	0.173000	0.22820	7.596000	0.82721	2.193000	0.70182	0.609000	0.83330	GCC		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		3	53	0	0	0	1	0	3	53				
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:204380470A>G	ENST00000367188.4	-	1	449	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627																																						uc001hav.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(70-72)Ttt>Ctt		Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.							41.0	52.0	48.0					1																	204380470		2201	4299	6500	SO:0001583	missense	84919				regulation of translation			g.chr1:204380470A>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.70T>C	1.37:g.204380470A>G	ENSP00000356156:p.Phe24Leu						p.F24L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		0	475	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		24					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.70T>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343788	0.24339	.	.	ENSG00000158615	ENST00000367188	T	0.24151	1.87	4.77	0.894	0.19242	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.379360	0.19194	N	0.120358	T	0.14917	0.0360	L	0.29908	0.895	0.23568	N	0.997399	B	0.06786	0.001	B	0.06405	0.002	T	0.18587	-1.0332	10	0.33940	T	0.23	.	5.4501	0.16560	0.5687:0.3383:0.093:0.0	.	24	Q5SWA1	PR15B_HUMAN	L	24	ENSP00000356156:F24L	ENSP00000356156:F24L	F	-	1	0	PPP1R15B	202647093	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-0.374000	0.07484	-0.059000	0.13154	-0.274000	0.10170	TTT		0.627	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		3	134	0	0	0	1	0	3	134				
SBNO1	55206	broad.mit.edu	37	12	123805012	123805012	+	Silent	SNP	G	G	A	rs567091125		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:123805012G>A	ENST00000602398.1	-	19	2761	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	SBNO1_ENST00000267176.4_Silent_p.I877I|SBNO1_ENST00000602750.1_Silent_p.I877I|SBNO1_ENST00000420886.2_Silent_p.I878I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	878					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGTTCATCGATAAGTTCAT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19543	0.0		0.0	False		,,,				2504	0.001					uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2632-2634)atC>atT		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							119.0	118.0	118.0					12																	123805012		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805012G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2634C>T	12.37:g.123805012G>A						SBNO1_uc010tao.2_Silent_p.I877I|SBNO1_uc010taq.2_Intron	p.I878I	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	17	2634	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		878					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.2634C>T	CCDS53844.1																																																																																				0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		34	98	0	0	0	1	0	34	98				
SEMA7A	8482	broad.mit.edu	37	15	74703138	74703138	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr15:74703138G>A	ENST00000261918.4	-	14	2376	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	SEMA7A_ENST00000543145.2_Missense_Mutation_p.H596Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.H445Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	610	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAAGTAGTGGCCGTACTGC	0.637																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1828-1830)Cac>Tac		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							78.0	77.0	77.0					15																	74703138		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703138G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1828C>T	15.37:g.74703138G>A	ENSP00000261918:p.His610Tyr					SEMA7A_uc010ulk.2_Missense_Mutation_p.H445Y|SEMA7A_uc010ull.2_Missense_Mutation_p.H596Y	p.H610Y	NM_003612	NP_001139502	O75326	SEM7A_HUMAN			13	1868	-			610			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1828C>T	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939649	0.52972	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.12465	2.68;2.68;2.68	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.675957	0.14345	N	0.325483	T	0.12774	0.0310	L	0.47716	1.5	0.31959	N	0.608595	P;P	0.49862	0.912;0.929	B;P	0.44597	0.325;0.454	T	0.00615	-1.1643	10	0.02654	T	1	-33.8475	11.2779	0.49178	0.0:0.0:0.818:0.182	.	596;610	F5H1S0;O75326	.;SEM7A_HUMAN	Y	610;596;445	ENSP00000261918:H610Y;ENSP00000438966:H596Y;ENSP00000441493:H445Y	ENSP00000261918:H610Y	H	-	1	0	SEMA7A	72490191	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.945000	0.40273	2.094000	0.63399	0.555000	0.69702	CAC		0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		27	44	0	0	0	1	0	27	44				
PTCD1	26024	broad.mit.edu	37	7	99032844	99032844	+	Nonsense_Mutation	SNP	G	G	A	rs138103080		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:99032844G>A	ENST00000292478.4	-	2	272	c.22C>T	c.(22-24)Cga>Tga	p.R8*	PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.R57*|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Nonsense_Mutation_p.R57*	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	8					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCGAACAGTCGAGCGAGTCTC	0.567																																						uc011kiw.2																			0											c.(169-171)Cga>Tga		Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.		G	stop/ARG,stop/ARG	0,4406		0,0,2203	54.0	60.0	58.0		169,22	3.9	0.0	7	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	PTCD1,ATP5J2-PTCD1	NM_001198879.1,NM_015545.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	57/750,8/701	99032844	1,13003	2203	4299	6502	SO:0001587	stop_gained	100526740							g.chr7:99032844G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.22C>T	7.37:g.99032844G>A	ENSP00000292478:p.Arg8*					ATP5J2-PTCD1_uc003uqh.3_Nonsense_Mutation_p.R8*	p.R57*	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN			2	229	-			57					Q3ZB78|Q66K60|Q9UDV2	Nonsense_Mutation	SNP	ENST00000292478.4	37	c.169C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323073	0.24080	0.0	1.16E-4	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	.	.	.	5.69	3.88	0.44766	.	0.921067	0.09177	N	0.838055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-14.8697	11.8636	0.52480	0.0:0.1311:0.7324:0.1365	.	.	.	.	X	8;57;8;8;8;8;57	.	ENSP00000400168:R57X	R	-	1	2	ATP5J2-PTCD1;PTCD1	98870780	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	0.302000	0.19192	0.361000	0.24292	-2.689000	0.00140	CGA		0.567	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		19	114	0	0	0	1	0	19	114				
XIST	7503	broad.mit.edu	37	X	73071160	73071160	+	lincRNA	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chrX:73071160G>A	ENST00000429829.1	-	0	1428					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAAGCACACAGCAAAGACAAA	0.517																																						uc004ebm.1																			0													Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.							134.0	129.0	130.0					X																	73071160		876	1991	2867			7503							g.chrX:73071160G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071160G>A														0		-									RNA	SNP	ENST00000429829.1	37	c.1429C>T																																																																																					0.517	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		3	59	0	0	0	1	0	3	59				
SLC22A14	9389	broad.mit.edu	37	3	38357110	38357110	+	Silent	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38357110G>T	ENST00000273173.4	+	8	1531	c.1440G>T	c.(1438-1440)acG>acT	p.T480T	SLC22A14_ENST00000448498.1_Silent_p.T480T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	480					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AATCCATGACGATCTTGGTGC	0.592																																						uc010hhc.1																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1438-1440)acG>acT		Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.							168.0	139.0	148.0					3																	38357110		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357110G>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1440G>T	3.37:g.38357110G>T						SLC22A14_uc003cib.2_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript	p.T480T	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1482	+			480					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1440G>T	CCDS2677.1																																																																																				0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		74	133	0	0	0	1	0	74	133				
ACVR2B	93	broad.mit.edu	37	3	38523689	38523689	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38523689G>C	ENST00000352511.4	+	9	1547	c.1075G>C	c.(1075-1077)Gta>Cta	p.V359L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACATAGGTAGGCACGAG	0.562																																						uc003cif.3																			0				lung(1)	1						c.e9-1		Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.							89.0	72.0	77.0					3																	38523689		2203	4300	6503	SO:0001630	splice_region_variant	93				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38523689G>C	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1075-1G>C	3.37:g.38523689G>C						ACVR2B_uc003cig.3_Splice_Site_p.V150_splice	p.V359_splice	NM_001106	NP_001097	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	9	1099	+	Medulloblastoma(35;0.163)		359			Protein kinase.		Q4VAV0	Splice_Site	SNP	ENST00000352511.4	37	c.1075_splice	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867236	0.72065	.	.	ENSG00000114739	ENST00000352511	T	0.69561	-0.41	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.66560	2.04	0.80722	D	1	P	0.46277	0.875	B	0.44133	0.442	T	0.70854	-0.4759	9	.	.	.	.	19.5661	0.95393	0.0:0.0:1.0:0.0	.	359	Q13705	AVR2B_HUMAN	L	359	ENSP00000340361:V359L	.	V	+	1	0	ACVR2B	38498693	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	9.752000	0.98900	2.617000	0.88574	0.563000	0.77884	GTA		0.562	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	Missense_Mutation	26	70	0	0	0	1	0	26	70				
AFF3	3899	broad.mit.edu	37	2	100623626	100623626	+	Silent	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr2:100623626G>A	ENST00000409236.2	-	4	583	c.471C>T	c.(469-471)gaC>gaT	p.D157D	AFF3_ENST00000356421.2_Silent_p.D182D|AFF3_ENST00000317233.4_Silent_p.D157D|AFF3_ENST00000409579.1_Silent_p.D182D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	157					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGTTGGCCGTCAGAGGGTG	0.498																																						uc002taf.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(544-546)gaC>gaT		Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.							75.0	82.0	80.0					2																	100623626		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623626G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.471C>T	2.37:g.100623626G>A						AFF3_uc002tag.3_Silent_p.D157D|AFF3_uc010fiq.1_Silent_p.D157D|AFF3_uc010yvr.1_Silent_p.D311D|AFF3_uc002tah.1_Silent_p.D182D|AFF3_uc010fir.1_Silent_p.D234D	p.D182D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN			4	690	-			157					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.546C>T	CCDS42723.1																																																																																				0.498	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		38	69	0	0	0	1	0	38	69				
KPNA1	3836	broad.mit.edu	37	3	122168506	122168506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:122168506G>A	ENST00000344337.6	-	9	1008	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	278	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATGAGAGGGCCCAGCAG	0.433																																					Melanoma(12;340 801 11196 19797)	uc003efe.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(832-834)Ctc>Ttc		Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.							79.0	75.0	76.0					3																	122168506		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168506G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.832C>T	3.37:g.122168506G>A	ENSP00000343701:p.Leu278Phe					KPNA1_uc003efb.1_Missense_Mutation_p.L77F|KPNA1_uc003efc.1_Missense_Mutation_p.L77F|KPNA1_uc011bjr.1_Missense_Mutation_p.L77F|KPNA1_uc010hrh.2_Missense_Mutation_p.L77F	p.L278F	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	8	1020	-			278			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.832C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221700	0.79464	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	D;D	0.85629	-2.01;-2.01	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.91102	0.4915	10	0.72032	D	0.01	-8.0799	10.9074	0.47088	0.0936:0.0:0.9064:0.0	.	278	P52294	IMA1_HUMAN	F	278	ENSP00000343701:L278F;ENSP00000419890:L278F	ENSP00000343701:L278F	L	-	1	0	KPNA1	123651196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.325000	0.52030	2.644000	0.89710	0.563000	0.77884	CTC		0.433	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		3	94	0	0	0	1	0	3	94				
PSMA2	5683	broad.mit.edu	37	7	42971806	42971806	+	5'UTR	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:42971806G>A	ENST00000223321.4	-	0	16				PSMA2_ENST00000442788.1_5'Flank|MRPL32_ENST00000223324.2_5'UTR|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CACTGTGGCCGATTTCCTTTC	0.537																																						uc010kxr.3																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.e1-1		Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.							44.0	46.0	45.0					7																	42971806		2203	4300	6503	SO:0001623	5_prime_UTR_variant	79020							g.chr7:42971806G>A	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.-49C>T	7.37:g.42971806G>A						PSMA2_uc003thy.3_Splice_Site|PSMA2_uc003thz.1_Splice_Site|MRPL32_uc003tia.3_5'Flank|MRPL32_uc003tib.3_5'Flank		NM_001099858	NP_001093328	Q9BPX7	CG025_HUMAN			1	1	-								Q6ICS6|Q9BU45	Splice_Site	SNP	ENST00000223321.4	37	c.-929_splice	CCDS5467.1																																																																																				0.537	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		22	33	0	0	0	1	0	22	33				
KTI12	112970	broad.mit.edu	37	1	52499143	52499143	+	Silent	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:52499143C>A	ENST00000371614.1	-	1	345	c.291G>T	c.(289-291)gcG>gcT	p.A97A	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	97							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGGTGCGCGCCGCCCGTGCCA	0.672																																						uc001ctj.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(289-291)gcG>gcT		Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.							57.0	63.0	61.0					1																	52499143		2203	4300	6503	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52499143C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.291G>T	1.37:g.52499143C>A						TXNDC12_uc001cti.3_Intron	p.A97A	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			0	330	-			97						Silent	SNP	ENST00000371614.1	37	c.291G>T	CCDS562.1																																																																																				0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	157	0	0	0	1	0	4	157				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	66	0	0	0	1	0	39	66				
DMRTC2	63946	broad.mit.edu	37	19	42351650	42351650	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:42351650G>A	ENST00000269945.3	+	2	205	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	DMRTC2_ENST00000596827.1_Missense_Mutation_p.A52T|LYPD4_ENST00000330743.3_5'Flank|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	52					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGTGTCACCGCCCATCTCAA	0.617																																						uc010xwe.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(154-156)Gcc>Acc		Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.							78.0	69.0	72.0					19																	42351650		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351650G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.154G>A	19.37:g.42351650G>A	ENSP00000269945:p.Ala52Thr					DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.A52T	p.A52T	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			1	237	+			52					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.154G>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600590	0.46423	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	4.54	0.55810	DM DNA-binding (6);	0.197463	0.32416	N	0.006134	T	0.50582	0.1624	N	0.05306	-0.075	0.36663	D	0.878074	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.813	T	0.61441	-0.7062	9	0.41790	T	0.15	-10.8185	13.5035	0.61471	0.0:0.0:1.0:0.0	.	52;52	B4DX56;Q8IXT2	.;DMRTD_HUMAN	T	52	.	ENSP00000269945:A52T	A	+	1	0	DMRTC2	47043490	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.550000	0.53691	2.472000	0.83506	0.561000	0.74099	GCC		0.617	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		4	117	0	0	0	1	0	4	117				
SYNGR4	23546	broad.mit.edu	37	19	48869181	48869181	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:48869181G>T	ENST00000344846.2	+	2	332	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	TMEM143_ENST00000293261.3_5'Flank|TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000541566.1_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000435956.3_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	28	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCACGCGGGTCTTCGAAGG	0.617																																						uc002piz.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(82-84)Gtc>Ttc		Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.							84.0	82.0	83.0					19																	48869181		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48869181G>T	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.82G>T	19.37:g.48869181G>T	ENSP00000344041:p.Val28Phe					TMEM143_uc002piw.1_5'Flank|TMEM143_uc010xzn.1_5'Flank|TMEM143_uc010elw.1_5'Flank|TMEM143_uc010xzo.1_5'Flank|TMEM143_uc002pix.1_5'Flank|TMEM143_uc002piy.1_5'Flank|TMEM143_uc010xzp.1_5'Flank|TMEM143_uc010xzq.1_5'Flank|Mir_324_uc021uwt.1_5'Flank	p.V28F	NM_012451	NP_036583	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	1	333	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	28			MARVEL.		Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.82G>T	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580398	0.13686	.	.	ENSG00000105467	ENST00000344846	T	0.28255	1.62	4.92	2.77	0.32553	Marvel (1);MARVEL-like domain (1);	0.273852	0.34676	N	0.003778	T	0.18800	0.0451	N	0.25890	0.77	0.28370	N	0.920023	B	0.30211	0.273	B	0.29176	0.099	T	0.11518	-1.0584	10	0.42905	T	0.14	-15.8203	6.7547	0.23507	0.7631:0.1532:0.0837:0.0	.	28	O95473	SNG4_HUMAN	F	28	ENSP00000344041:V28F	ENSP00000344041:V28F	V	+	1	0	SYNGR4	53560993	0.998000	0.40836	0.764000	0.31436	0.006000	0.05464	0.572000	0.23684	0.293000	0.22520	-0.438000	0.05819	GTC		0.617	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			41	52	0	0	0	1	0	41	52				
THSD1	55901	broad.mit.edu	37	13	52971586	52971586	+	Missense_Mutation	SNP	C	C	T	rs201109452		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr13:52971586C>T	ENST00000258613.4	-	3	980	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	THSD1_ENST00000349258.4_Missense_Mutation_p.V268I|THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	268					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.V268I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCCTTGGACGAAGGTGCAT	0.562																																						uc001vgo.3																			1	Substitution - Missense(1)	p.V268I(2)	endometrium(1)	breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(802-804)Gtc>Atc		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	74.0	72.0	72.0		802,802	4.9	0.0	13		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	THSD1	NM_018676.3,NM_199263.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	268/853,268/800	52971586	1,13005	2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971586C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.802G>A	13.37:g.52971586C>T	ENSP00000258613:p.Val268Ile					THSD1_uc001vgp.3_Missense_Mutation_p.V268I|THSD1_uc010tgz.2_Intron	p.V268I	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	2	1347	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	268					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.802G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	2.629	-0.286888	0.05605	0.0	1.16E-4	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.16196	2.36;2.55	5.79	4.95	0.65309	.	0.299209	0.32736	N	0.005705	T	0.13500	0.0327	L	0.45137	1.4	0.25006	N	0.99143	P;B	0.39883	0.693;0.05	B;B	0.35182	0.197;0.004	T	0.15321	-1.0441	10	0.24483	T	0.36	-17.2921	10.4801	0.44689	0.0:0.8368:0.0:0.1632	.	268;268	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	268	ENSP00000340650:V268I;ENSP00000258613:V268I	ENSP00000258613:V268I	V	-	1	0	THSD1	51869587	0.942000	0.31987	0.018000	0.16275	0.007000	0.05969	2.020000	0.41010	1.455000	0.47813	-0.254000	0.11334	GTC		0.562	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			30	78	0	0	0	1	0	30	78				
OBSCN	84033	broad.mit.edu	37	1	228461984	228461984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:228461984G>A	ENST00000422127.1	+	19	5566	c.5522G>A	c.(5521-5523)tGg>tAg	p.W1841*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.W2216*|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W688*|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1841	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGGTGTGGCGCTGCGGC	0.692																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5521-5523)tGg>tAg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							54.0	65.0	61.0					1																	228461984		2190	4277	6467	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228461984G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5522G>A	1.37:g.228461984G>A	ENSP00000409493:p.Trp1841*					OBSCN_uc001hsn.3_Nonsense_Mutation_p.W1841*	p.W1841*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			18	5566	+		Prostate(94;0.0405)	1841			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.5522G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257981	0.97417	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	.	.	.	5.16	5.16	0.70880	.	0.082968	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3684	0.60698	0.0783:0.0:0.9217:0.0	.	.	.	.	X	1841;1841;688	.	ENSP00000284548:W1841X	W	+	2	0	OBSCN	226528607	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.326000	0.79133	2.582000	0.87167	0.555000	0.69702	TGG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	169	0	0	0	1	0	4	169				
RERGL	79785	broad.mit.edu	37	12	18237559	18237559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:18237559C>T	ENST00000229002.2	-	5	433	c.227G>A	c.(226-228)tGg>tAg	p.W76*	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Nonsense_Mutation_p.W75*|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	76	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCATCTGCCCAGTGAAGCTC	0.398																																						uc001rdq.3																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(226-228)tGg>tAg		Homo sapiens RERG/RAS-like (RERGL), mRNA.							135.0	129.0	131.0					12																	18237559		2203	4300	6503	SO:0001587	stop_gained	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237559C>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.227G>A	12.37:g.18237559C>T	ENSP00000229002:p.Trp76*						p.W76*	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			4	421	-			76			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000229002.2	37	c.227G>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	C	37	6.332038	0.97480	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	.	.	.	4.79	4.79	0.61399	.	0.057961	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.8961	0.86101	0.0:1.0:0.0:0.0	.	.	.	.	X	76;75	.	ENSP00000229002:W76X	W	-	2	0	RERGL	18128826	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.912000	0.75753	2.599000	0.87857	0.467000	0.42956	TGG		0.398	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		55	93	0	0	0	1	0	55	93				
SEMA6C	10500	broad.mit.edu	37	1	151105171	151105171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:151105171delG	ENST00000341697.3	-	19	4273	c.2582delC	c.(2581-2583)cctfs	p.P861fs	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_Intron			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	861					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCAGGGCAGGGGGGGCCCG	0.781																																						uc001ewv.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(2677-2679)cctfs		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.							2.0	2.0	2.0					1																	151105171		1554	3144	4698	SO:0001589	frameshift_variant	10500					integral to membrane	receptor activity	g.chr1:151105171delG	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2582delC	1.37:g.151105171delG	ENSP00000344148:p.Pro861fs					SEMA6C_uc001ewu.3_Frame_Shift_Del_p.P861fs|SEMA6C_uc001eww.3_Frame_Shift_Del_p.P853fs	p.P893fs	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3014	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		861					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Del	DEL	ENST00000341697.3	37	c.2678delC	CCDS984.1																																																																																				0.781	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		2	4						2	4	---	---	---	---
PNISR	25957	broad.mit.edu	37	6	99848406	99848406	+	3'UTR	DEL	A	A	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:99848406delA	ENST00000369239.5	-	0	2632				PNISR_ENST00000438806.1_3'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AAAATACTTTAAAAAGTATAC	0.348																																						uc021zdd.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(226-228)tttfs		Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.							95.0	101.0	99.0					6																	99848406		2202	4297	6499	SO:0001624	3_prime_UTR_variant	25957					nuclear speck		g.chr6:99848406delA	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.*10T>-	6.37:g.99848406delA						PNISR_uc021zdc.1_Intron|PNISR_uc003ppo.4_3'UTR|PNISR_uc003ppp.4_3'UTR|PNISR_uc011eag.2_3'UTR	p.F76fs	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN			0	909	-			0					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	ENST00000369239.5	37	c.228delT	CCDS5043.1																																																																																				0.348	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		95	138						95	138	---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	929631	929631	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:929631delC	ENST00000263620.3	+	2	430	c.103delC	c.(103-105)cccfs	p.P36fs	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	36			P -> H (in dbSNP:rs17857499). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGCAccccccggccg	0.741																																					Pancreas(29;54 1022 32760 50921)	uc002lql.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(103-105)cccfs		Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.							1.0	2.0	2.0					19																	929631		933	2429	3362	SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929631delC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.103delC	19.37:g.929631delC	ENSP00000263620:p.Pro36fs						p.P35fs	NM_005224	NP_005215	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	393	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	35					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.103delC	CCDS12050.1																																																																																				0.741	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	4						2	4	---	---	---	---
XRCC6P5	442459	broad.mit.edu	37	X	98975827	98975827	+	IGR	DEL	T	T	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chrX:98975827delT								AL109750.1 (335553 upstream) : SNORA25 (379254 downstream)																							CTGGTCAAGCTTTAGAATTTG	0.398																																						uc011mrd.1																			0													Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																																				SO:0001628	intergenic_variant	442459							g.chrX:98975827delT																													X.37:g.98975827delT														6		-									RNA	DEL		37	c.772delA																																																																																				0	0.398									2	4						2	4	---	---	---	---
