#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
HIVEP3	59269	broad.mit.edu	37	1	42048045	42048045	+	Silent	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:42048045T>C	ENST00000372583.1	-	4	3309	c.2424A>G	c.(2422-2424)aaA>aaG	p.K808K	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.K808K|HIVEP3_ENST00000429157.2_Silent_p.K808K|HIVEP3_ENST00000372584.1_Silent_p.K808K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	808	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAATCAGATTTCTCAAAGG	0.557																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2422-2424)aaA>aaG		human immunodeficiency virus type I enhancer binding protein 3							47.0	50.0	49.0					1																	42048045		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048045T>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2424A>G	1.37:g.42048045T>C						HIVEP3_ENST00000372583.1_Silent_p.K808K|HIVEP3_ENST00000247584.5_Silent_p.K808K|HIVEP3_ENST00000429157.2_Silent_p.K808K	p.K808K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3438	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	808			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2424A>G	CCDS463.1																																																																																				0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	88	0	0	0	1	0	4	88				
PUM2	23369	broad.mit.edu	37	2	20463041	20463041	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20463041T>C	ENST00000361078.2	-	13	2160	c.2138A>G	c.(2137-2139)gAt>gGt	p.D713G	PUM2_ENST00000319801.5_Missense_Mutation_p.D634G|PUM2_ENST00000403432.1_Missense_Mutation_p.D713G|PUM2_ENST00000536417.1_Missense_Mutation_p.D657G|PUM2_ENST00000338086.5_Missense_Mutation_p.D713G			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	713	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCTGAAATCTTCCAATAA	0.443																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2137-2139)gAt>gGt		pumilio RNA-binding family member 2							66.0	67.0	67.0					2																	20463041		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463041T>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2138A>G	2.37:g.20463041T>C	ENSP00000354370:p.Asp713Gly					PUM2_ENST00000319801.5_Missense_Mutation_p.D634G|PUM2_ENST00000338086.5_Missense_Mutation_p.D713G|PUM2_ENST00000403432.1_Missense_Mutation_p.D713G|PUM2_ENST00000536417.1_Missense_Mutation_p.D657G	p.D713G			Q8TB72	PUM2_HUMAN			13	2160	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		713			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2138A>G		.	.	.	.	.	.	.	.	.	.	T	20.4	3.979347	0.74360	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	M	0.75264	2.295	0.80722	D	1	B;D;D;D	0.76494	0.246;0.999;0.999;0.998	B;D;D;D	0.85130	0.201;0.992;0.997;0.997	T	0.19386	-1.0307	10	0.62326	D	0.03	-13.327	15.9781	0.80086	0.0:0.0:0.0:1.0	.	657;634;713;713	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	G	713;713;634;525;713;657	ENSP00000338173:D713G;ENSP00000354370:D713G;ENSP00000326746:D634G;ENSP00000409905:D525G;ENSP00000385992:D713G;ENSP00000440093:D657G	ENSP00000326746:D634G	D	-	2	0	PUM2	20326522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.171000	0.68590	0.533000	0.62120	GAT		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		8	40	0	0	0	1	0	8	40				
ZSWIM1	90204	broad.mit.edu	37	20	44512067	44512067	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:44512067T>C	ENST00000372523.1	+	2	931	c.836T>C	c.(835-837)aTg>aCg	p.M279T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M279T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	279						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAACAAGGTATGGCTTCTCTG	0.537																																						ENST00000372523.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(835-837)aTg>aCg		zinc finger, SWIM-type containing 1							116.0	108.0	111.0					20																	44512067		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44512067T>C	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.836T>C	20.37:g.44512067T>C	ENSP00000361601:p.Met279Thr					ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M279T	p.M279T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	931	+		Myeloproliferative disorder(115;0.028)	279					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.836T>C	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372091	0.24857	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24151	1.87;1.87	5.26	5.26	0.73747	.	0.318212	0.26563	U	0.023661	T	0.20007	0.0481	N	0.24115	0.695	0.18873	N	0.999984	B	0.19817	0.039	B	0.14578	0.011	T	0.19224	-1.0312	10	0.66056	D	0.02	-18.081	15.0151	0.71578	0.0:0.0:0.0:1.0	.	279	Q9BR11	ZSWM1_HUMAN	T	279	ENSP00000361601:M279T;ENSP00000361598:M279T	ENSP00000361598:M279T	M	+	2	0	ZSWIM1	43945474	0.036000	0.19791	0.429000	0.26710	0.921000	0.55340	2.373000	0.44266	2.205000	0.71048	0.528000	0.53228	ATG		0.537	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		4	139	0	0	0	1	0	4	139				
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Nonsense_Mutation	SNP	C	C	A	rs370685925		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:39922163C>A	ENST00000378444.4	-	9	4237	c.4009G>T	c.(4009-4011)Gaa>Taa	p.E1337*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3907-3909)Gaa>Taa		BCL6 corepressor							141.0	112.0	121.0					X																	39922163		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922163C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>T	X.37:g.39922163C>A	ENSP00000367705:p.Glu1337*					BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1337*	p.E1303*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4269	-			1337					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.3907G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	45	11.583240	0.99579	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	.	.	.	X	207;180;1285;1303;1337;1303;10	.	ENSP00000345923:E1303X	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	6	1	0	8.12818e-05	1	9.21194e-05	7	6				
SLC52A3	113278	broad.mit.edu	37	20	745919	745919	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:745919A>G	ENST00000217254.7	-	2	741	c.500T>C	c.(499-501)gTc>gCc	p.V167A	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.V167A	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	167					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										AGTGACATTGACGCAGGTAGT	0.597																																						ENST00000381944.3																			0											c.(499-501)gTc>gCc		solute carrier family 52 (riboflavin transporter), member 3							80.0	76.0	77.0					20																	745919		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745919A>G	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.500T>C	20.37:g.745919A>G	ENSP00000217254:p.Val167Ala					SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.V167A	p.V167A			Q9NQ40	RFT2_HUMAN			2	741	-			167					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.500T>C	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853580	0.51270	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.73681	-0.77;-0.77	5.53	1.91	0.25777	.	0.318910	0.32769	N	0.005667	T	0.54902	0.1887	L	0.37630	1.12	0.50467	D	0.999874	B;B	0.24618	0.107;0.065	B;B	0.18871	0.023;0.007	T	0.35871	-0.9771	10	0.12766	T	0.61	-20.6388	4.9447	0.13984	0.654:0.0:0.2096:0.1364	.	167;167	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	A	167	ENSP00000217254:V167A;ENSP00000371370:V167A	ENSP00000217254:V167A	V	-	2	0	C20orf54	693919	0.745000	0.28261	0.396000	0.26296	0.797000	0.45037	1.492000	0.35594	0.951000	0.37770	0.459000	0.35465	GTC		0.597	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		15	70	0	0	0	1	0	15	70				
SCRIB	23513	broad.mit.edu	37	8	144874061	144874061	+	Silent	SNP	G	G	C	rs530563448		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144874061G>C	ENST00000320476.3	-	34	4686	c.4680C>G	c.(4678-4680)acC>acG	p.T1560T	SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Silent_p.T1560T|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Silent_p.T1479T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1560					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCCCGGGGAGGTGCTGGTCT	0.716																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(4678-4680)acC>acG		scribbled planar cell polarity protein							6.0	8.0	7.0					8																	144874061		2080	4118	6198	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874061G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4680C>G	8.37:g.144874061G>C						SCRIB_ENST00000320476.3_Silent_p.T1560T|SCRIB_ENST00000377533.3_Silent_p.T1479T	p.T1560T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		34	4686	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1560					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.4680C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.420	0.846102	0.16963	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.46	3.56	0.40772	.	.	.	.	.	T	0.59985	0.2234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57359	-0.7825	4	.	.	.	.	9.8012	0.40766	0.1612:0.0:0.8388:0.0	.	.	.	.	V	580	.	.	L	-	1	0	SCRIB	144946049	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.071000	0.30666	2.206000	0.71126	0.556000	0.70494	CTC		0.716	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	11	0	0	0	1	0	3	11				
SELENBP1	8991	broad.mit.edu	37	1	151338854	151338854	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:151338854C>A	ENST00000368868.5	-	7	831	c.740G>T	c.(739-741)gGg>gTg	p.G247V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.G185V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.G183V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.G289V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	247					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAATAAGCCCATCTTTTAG	0.577																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(547-549)gGg>gTg		selenium binding protein 1							123.0	127.0	126.0					1																	151338854		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338854C>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.740G>T	1.37:g.151338854C>A	ENSP00000357861:p.Gly247Val					SELENBP1_ENST00000447402.3_Missense_Mutation_p.G185V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.G247V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.G289V	p.G183V			Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1010	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		247					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.548G>T	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.151940|3.151940	0.57151|0.57151	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	T|T;T;T;T;T	0.32515|0.30981	1.45|1.51;1.51;1.51;2.51;2.51	4.32|4.32	4.32|4.32	0.51571|0.51571	.|WD40/YVTN repeat-like-containing domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.54046|0.54046	0.1834|0.1834	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;0.999;1.0;0.998;1.0	T|T	0.63821|0.63821	-0.6550|-0.6550	8|10	0.87932|0.72032	D|D	0|0.01	-10.7074|-10.7074	10.1484|10.1484	0.42778|0.42778	0.0:0.9024:0.0:0.0976|0.0:0.9024:0.0:0.0976	.|.	.|185;289;207;231;183;100;183;247	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;Q9H8A8;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;.;SBP1_HUMAN	C|V	208|247;185;183;231;289	ENSP00000396209:G208C|ENSP00000357861:G247V;ENSP00000413960:G185V;ENSP00000408263:G183V;ENSP00000406222:G231V;ENSP00000397261:G289V	ENSP00000396209:G208C|ENSP00000357861:G247V	G|G	-|-	1|2	0|0	SELENBP1|SELENBP1	149605478|149605478	0.996000|0.996000	0.38824|0.38824	0.963000|0.963000	0.40424|0.40424	0.414000|0.414000	0.31173|0.31173	3.514000|3.514000	0.53422|0.53422	2.239000|2.239000	0.73571|0.73571	0.407000|0.407000	0.27541|0.27541	GGC|GGG		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			14	169	1	0	4.36969e-10	1	5.30605e-10	14	169				
KIAA0226	9711	broad.mit.edu	37	3	197421354	197421354	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:197421354C>T	ENST00000296343.5	-	10	1575	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E526K|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E481K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	526					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTGTCTTCCTCTTCCACT	0.532																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1441-1443)Gaa>Aaa		KIAA0226							168.0	170.0	169.0					3																	197421354		2073	4205	6278	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197421354C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1576G>A	3.37:g.197421354C>T	ENSP00000296343:p.Glu526Lys					KIAA0226_ENST00000389665.5_Missense_Mutation_p.E526K|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E526K	p.E481K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	11	1986	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		526					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1441G>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.650642|4.650642	0.87958|0.87958	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048|ENST00000413360	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.128592|.	0.53938|.	D|.	0.000059|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.38175|0.38175	1.15|1.15	0.52501|0.52501	D|D	0.999958|0.999958	P;P;P;P|.	0.49559|.	0.925;0.915;0.835;0.839|.	P;P;P;B|.	0.48334|.	0.54;0.574;0.493;0.218|.	T|T	0.56836|0.56836	-0.7913|-0.7913	9|5	0.51188|.	T|.	0.08|.	.|.	18.3225|18.3225	0.90243|0.90243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374;526;481;526|.	Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;RUBIC_HUMAN|.	K|E	481;526;526;126|487	.|.	ENSP00000273582:E481K|.	E|G	-|-	1|2	0|0	KIAA0226|KIAA0226	198905751|198905751	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.606000|0.606000	0.37113|0.37113	7.316000|7.316000	0.79007|0.79007	2.338000|2.338000	0.79540|0.79540	0.558000|0.558000	0.71614|0.71614	GAA|GGA		0.532	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		5	108	0	0	0	1	0	5	108				
TOP1MT	116447	broad.mit.edu	37	8	144413450	144413450	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144413450G>A	ENST00000329245.4	-	2	216	c.182C>T	c.(181-183)cCg>cTg	p.P61L	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	61					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCGAAGTACGGGCCCTTGTG	0.612																																						ENST00000329245.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(181-183)cCg>cTg		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						142.0	126.0	132.0					8																	144413450		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144413450G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.182C>T	8.37:g.144413450G>A	ENSP00000328835:p.Pro61Leu					TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR	p.P61L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	216	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		61					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.182C>T	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984896	0.53934	.	.	ENSG00000184428	ENST00000329245;ENST00000518007;ENST00000518760;ENST00000522043	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.51	2.61	0.31194	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.152547	0.30085	U	0.010449	T	0.62208	0.2409	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59963	-0.7355	10	0.32370	T	0.25	.	11.6354	0.51200	0.0:0.1817:0.8183:0.0	.	61	Q969P6	TOP1M_HUMAN	L	61;30;87;118	ENSP00000328835:P61L;ENSP00000430209:P30L;ENSP00000428723:P87L;ENSP00000428931:P118L	ENSP00000328835:P61L	P	-	2	0	TOP1MT	144484825	1.000000	0.71417	0.074000	0.20217	0.169000	0.22640	5.170000	0.64990	0.431000	0.26258	0.598000	0.82781	CCG		0.612	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		5	77	0	0	0	1	0	5	77				
DNM2	1785	broad.mit.edu	37	19	10904502	10904502	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10904502C>T	ENST00000355667.6	+	8	1179	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	DNM2_ENST00000389253.4_Missense_Mutation_p.H367Y|DNM2_ENST00000314646.5_Missense_Mutation_p.H367Y|DNM2_ENST00000359692.6_Missense_Mutation_p.H367Y|DNM2_ENST00000408974.4_Missense_Mutation_p.H367Y|DNM2_ENST00000585892.1_Missense_Mutation_p.H367Y	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	367					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGCATCTTCCACGAGCGGTT	0.632			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1099-1101)Cac>Tac		dynamin 2							88.0	95.0	92.0					19																	10904502		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904502C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1099C>T	19.37:g.10904502C>T	ENSP00000347890:p.His367Tyr					DNM2_ENST00000389253.4_Missense_Mutation_p.H367Y|DNM2_ENST00000408974.4_Missense_Mutation_p.H367Y|DNM2_ENST00000355667.6_Missense_Mutation_p.H367Y|DNM2_ENST00000359692.6_Missense_Mutation_p.H367Y|DNM2_ENST00000585892.1_Missense_Mutation_p.H367Y	p.H367Y			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1263	+			367					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1099C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958455	0.92726	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.93	4.93	0.64822	Dynamin central domain (1);	0.050458	0.85682	D	0.000000	D	0.88695	0.6506	M	0.91249	3.19	0.80722	D	1	D;P;B;P;P	0.63046	0.992;0.76;0.399;0.857;0.72	D;B;P;P;B	0.68943	0.961;0.378;0.543;0.616;0.41	D	0.91497	0.5216	10	0.87932	D	0	-1.2259	16.9458	0.86229	0.0:1.0:0.0:0.0	.	100;367;367;367;367	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	Y	356;367;367;367;367;367	ENSP00000386192:H367Y;ENSP00000347890:H367Y;ENSP00000352721:H367Y;ENSP00000373905:H367Y;ENSP00000313164:H367Y	ENSP00000313164:H367Y	H	+	1	0	DNM2	10765502	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.818000	0.86416	2.274000	0.75844	0.655000	0.94253	CAC		0.632	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		4	116	0	0	0	1	0	4	116				
ALG1	56052	broad.mit.edu	37	16	5134849	5134849	+	Silent	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:5134849G>A	ENST00000262374.5	+	13	1393	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	ALG1_ENST00000588623.1_Silent_p.V343V|FAM86A_ENST00000427587.4_3'UTR|FAM86A_ENST00000458008.4_3'UTR|ALG1_ENST00000544428.1_Silent_p.V343V	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	454					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGAGCTGGGTGCAGACTGTGC	0.557																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1027-1029)gtG>gtA		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							23.0	29.0	26.0					16																	5134849		1340	2296	3636	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5134849G>A	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1362G>A	16.37:g.5134849G>A						FAM86A_ENST00000458008.4_3'UTR|FAM86A_ENST00000427587.4_3'UTR|ALG1_ENST00000262374.5_Silent_p.V454V|ALG1_ENST00000544428.1_Silent_p.V343V	p.V343V			Q9BT22	ALG1_HUMAN			14	2129	+		Ovarian(90;0.0164)	454					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.1029G>A	CCDS10528.1																																																																																				0.557	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		15	39	0	0	0	1	0	15	39				
RAB5C	5878	broad.mit.edu	37	17	40282554	40282554	+	5'UTR	SNP	C	C	T	rs560209770		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:40282554C>T	ENST00000346213.4	-	0	179				CTD-2132N18.3_ENST00000592574.1_5'UTR|RAB5C_ENST00000393860.3_5'UTR|RAB5C_ENST00000547517.1_Silent_p.P22P	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family						endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGAGAGCGTGCGGGTGGGGAC	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19632	0.0		0.0	False		,,,				2504	0.0					ENST00000547517.1																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(64-66)ccG>ccA		RAB5C, member RAS oncogene family							28.0	25.0	26.0					17																	40282554		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282554C>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.-34G>A	17.37:g.40282554C>T						CTD-2132N18.3_ENST00000592574.1_5'UTR|RAB5C_ENST00000393860.3_5'UTR|RAB5C_ENST00000346213.4_5'UTR	p.P22P	NM_001252039.1	NP_001238968.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	366	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	0					F8W1H5|Q6FH55|Q9P0Y5	Silent	SNP	ENST00000346213.4	37	c.66G>A	CCDS11419.1																																																																																				0.572	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		3	23	0	0	0	1	0	3	23				
ECT2	1894	broad.mit.edu	37	3	172502587	172502587	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:172502587T>A	ENST00000392692.3	+	17	1995	c.1819T>A	c.(1819-1821)Tta>Ata	p.L607I	ECT2_ENST00000417960.1_Missense_Mutation_p.L575I|ECT2_ENST00000441497.2_Missense_Mutation_p.L576I|ECT2_ENST00000427830.1_Missense_Mutation_p.L576I|ECT2_ENST00000540509.1_Missense_Mutation_p.L607I|ECT2_ENST00000232458.5_Missense_Mutation_p.L576I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	607	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGCATTACTTTTAAATGGTAC	0.343																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1723-1725)Tta>Ata		epithelial cell transforming sequence 2 oncogene							170.0	161.0	164.0					3																	172502587		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172502587T>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1819T>A	3.37:g.172502587T>A	ENSP00000376457:p.Leu607Ile					ECT2_ENST00000232458.5_Missense_Mutation_p.L576I|ECT2_ENST00000540509.1_Missense_Mutation_p.L607I|ECT2_ENST00000427830.1_Missense_Mutation_p.L576I|ECT2_ENST00000441497.2_Missense_Mutation_p.L576I|ECT2_ENST00000392692.3_Missense_Mutation_p.L607I	p.L575I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		17	2200	+	Ovarian(172;0.00197)|Breast(254;0.158)		576			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1723T>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615211	0.87359	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.78	4.65	0.58169	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.998;0.997	D;D;D;D;D	0.97110	0.994;0.98;1.0;0.966;0.966	T	0.71213	-0.4659	10	0.87932	D	0	-13.5768	5.6698	0.17715	0.0:0.2371:0.0:0.7629	.	607;52;607;576;575	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	I	576;607;576;575;576;607	ENSP00000232458:L576I;ENSP00000376457:L607I;ENSP00000401910:L576I;ENSP00000415876:L575I;ENSP00000412259:L576I;ENSP00000443160:L607I	ENSP00000232458:L576I	L	+	1	2	ECT2	173985281	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.743000	0.38258	2.210000	0.71456	0.482000	0.46254	TTA		0.343	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		10	95	0	0	0	1	0	10	95				
DSP	1832	broad.mit.edu	37	6	7585646	7585646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:7585646G>A	ENST00000379802.3	+	24	8492	c.8151G>A	c.(8149-8151)tgG>tgA	p.W2717*	DSP_ENST00000418664.2_Nonsense_Mutation_p.W2118*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2717	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGAAAAATGGCTCCCGTATG	0.552																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8149-8151)tgG>tgA		desmoplakin							119.0	123.0	121.0					6																	7585646		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585646G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8151G>A	6.37:g.7585646G>A	ENSP00000369129:p.Trp2717*					DSP_ENST00000418664.2_Nonsense_Mutation_p.W2118*	p.W2717*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8492	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2717			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.8151G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	50	16.761548	0.99871	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.62	5.62	0.85841	.	0.100070	0.45867	D	0.000340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	.	.	.	X	2717;2118	.	ENSP00000369129:W2717X	W	+	3	0	DSP	7530645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.823000	0.86660	2.818000	0.97014	0.655000	0.94253	TGG		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		12	206	0	0	0	1	0	12	206				
HCST	10870	broad.mit.edu	37	19	36394716	36394716	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:36394716C>T	ENST00000246551.4	+	3	266	c.152C>T	c.(151-153)gCa>gTa	p.A51V	NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank|HCST_ENST00000437550.2_Missense_Mutation_p.A51V			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	51					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCTGGCAGGCCTCGTG	0.687																																						ENST00000246551.4																			0				lung(4)	4						c.(151-153)gCa>gTa		hematopoietic cell signal transducer							33.0	30.0	31.0					19																	36394716		2203	4300	6503	SO:0001583	missense	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36394716C>T	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.152C>T	19.37:g.36394716C>T	ENSP00000246551:p.Ala51Val					HCST_ENST00000437550.2_Missense_Mutation_p.A51V	p.A51V			Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	266	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		51					Q9UBS1|Q9Y3Y0	Missense_Mutation	SNP	ENST00000246551.4	37	c.152C>T	CCDS32998.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705586	0.89018	.	.	ENSG00000126264	ENST00000246551;ENST00000437550	.	.	.	4.55	-0.589	0.11683	.	0.524166	0.16146	N	0.227463	T	0.26376	0.0644	.	.	.	0.09310	N	1	B;B	0.27559	0.181;0.15	B;B	0.20955	0.032;0.019	T	0.14615	-1.0466	8	0.51188	T	0.08	-8.6543	7.3649	0.26768	0.0:0.574:0.0:0.426	.	51;51	Q9UBK5;Q9UBK5-2	HCST_HUMAN;.	V	51	.	ENSP00000246551:A51V	A	+	2	0	HCST	41086556	0.000000	0.05858	0.029000	0.17559	0.897000	0.52465	-1.080000	0.03407	0.091000	0.17302	0.655000	0.94253	GCA		0.687	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266		8	36	0	0	0	1	0	8	36				
DARS	1615	broad.mit.edu	37	2	136700980	136700980	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:136700980T>C	ENST00000264161.4	-	5	606	c.391A>G	c.(391-393)Aca>Gca	p.T131A	DARS_ENST00000463008.1_5'UTR|DARS_ENST00000537273.1_Missense_Mutation_p.T31A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	131					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCTTGCTGTGTACAGCTTCCA	0.333																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(391-393)Aca>Gca		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						208.0	199.0	202.0					2																	136700980		2203	4299	6502	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136700980T>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.391A>G	2.37:g.136700980T>C	ENSP00000264161:p.Thr131Ala					DARS_ENST00000537273.1_Missense_Mutation_p.T31A|DARS_ENST00000463008.1_5'UTR	p.T131A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	5	606	-			131					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.391A>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848546	0.51164	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565;ENST00000449218	D;T	0.82711	-1.64;-1.26	4.9	3.66	0.41972	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.315788	0.39341	N	0.001382	D	0.84023	0.5381	M	0.83603	2.65	0.58432	D	0.999998	B	0.24882	0.113	B	0.31547	0.132	D	0.85144	0.0982	10	0.87932	D	0	-11.7698	11.2669	0.49116	0.1368:0.0:0.0:0.8632	.	131	P14868	SYDC_HUMAN	A	131;31;98;98;98	ENSP00000264161:T131A;ENSP00000444192:T31A	ENSP00000264161:T131A	T	-	1	0	DARS	136417450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.922000	0.48860	2.180000	0.69256	0.460000	0.39030	ACA		0.333	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		5	139	0	0	0	1	0	5	139				
PF4V1	5197	broad.mit.edu	37	4	74719560	74719560	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:74719560G>A	ENST00000226524.3	+	2	335	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	54					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCCCAGGTCCGTCCCAGGCAC	0.612																																						ENST00000226524.3																			0				endometrium(1)|liver(2)	3						c.(160-162)cGt>cAt		platelet factor 4 variant 1							54.0	57.0	56.0					4																	74719560		2202	4296	6498	SO:0001583	missense	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719560G>A	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.161G>A	4.37:g.74719560G>A	ENSP00000226524:p.Arg54His						p.R54H	NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	335	+	Breast(15;0.00102)		54					A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	c.161G>A	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214762	0.01555	.	.	ENSG00000109272	ENST00000226524	T	0.04809	3.55	4.12	-2.56	0.06268	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.631229	0.16266	N	0.222028	T	0.01092	0.0036	N	0.01219	-0.95	0.09310	N	1	B	0.29115	0.233	B	0.22386	0.039	T	0.42531	-0.9446	10	0.02654	T	1	.	5.1238	0.14875	0.4048:0.177:0.4181:0.0	.	54	P10720	PF4V_HUMAN	H	54	ENSP00000226524:R54H	ENSP00000226524:R54H	R	+	2	0	PF4V1	74938424	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.524000	0.06222	-0.447000	0.07138	-1.261000	0.01458	CGT		0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			6	38	0	0	0	1	0	6	38				
CSPP1	79848	broad.mit.edu	37	8	68030560	68030560	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:68030560A>G	ENST00000262210.5	+	12	1590	c.1559A>G	c.(1558-1560)tAt>tGt	p.Y520C	CSPP1_ENST00000412460.1_Missense_Mutation_p.Y226C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	555	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGCATACTATTTTTATGGG	0.408																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1558-1560)tAt>tGt		centrosome and spindle pole associated protein 1							165.0	154.0	157.0					8																	68030560		1891	4098	5989	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68030560A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1559A>G	8.37:g.68030560A>G	ENSP00000262210:p.Tyr520Cys					CSPP1_ENST00000412460.1_Missense_Mutation_p.Y226C	p.Y520C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		12	1590	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	555			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1559A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193476	0.78902	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.37915	1.17;1.18;1.18	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000024	T	0.57755	0.2075	M	0.61703	1.905	0.44188	D	0.997006	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.988	T	0.60697	-0.7212	10	0.72032	D	0.01	-14.7018	14.8492	0.70284	1.0:0.0:0.0:0.0	.	226;520;555;555	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	C	520;555;226;226	ENSP00000262210:Y520C;ENSP00000415782:Y226C;ENSP00000430092:Y226C	ENSP00000262210:Y520C	Y	+	2	0	CSPP1	68193114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.705000	0.74644	2.214000	0.71695	0.528000	0.53228	TAT		0.408	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		5	120	0	0	0	1	0	5	120				
BCHE	590	broad.mit.edu	37	3	165547492	165547492	+	Missense_Mutation	SNP	C	C	A	rs201490686		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:165547492C>A	ENST00000264381.3	-	2	1496	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	444					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TAGAAAAAGGCATTATTTCCC	0.428																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1330-1332)Gcc>Tcc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						101.0	106.0	104.0					3																	165547492		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547492C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1330G>T	3.37:g.165547492C>A	ENSP00000264381:p.Ala444Ser					BCHE_ENST00000540653.1_Intron	p.A444S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1496	-			444					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1330G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361183	0.24684	.	.	ENSG00000114200	ENST00000264381	D	0.95412	-3.7	5.52	2.71	0.32032	Carboxylesterase, type B (1);	0.395769	0.29253	N	0.012698	D	0.93739	0.7999	L	0.38649	1.16	0.09310	N	1	B	0.25563	0.129	B	0.43331	0.416	D	0.88314	0.2958	10	0.87932	D	0	.	7.9983	0.30282	0.0:0.7222:0.132:0.1458	.	444	P06276	CHLE_HUMAN	S	444	ENSP00000264381:A444S	ENSP00000264381:A444S	A	-	1	0	BCHE	167030186	0.000000	0.05858	0.300000	0.25030	0.834000	0.47266	0.819000	0.27308	0.273000	0.22049	0.591000	0.81541	GCC		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			6	91	1	0	0.0293803	1	0.0302707	6	91				
MYOZ2	51778	broad.mit.edu	37	4	120072131	120072131	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:120072131C>T	ENST00000307128.5	+	3	394	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_016599.4	NP_057683.1			myozenin 2									p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTTAAGATGCGTCAAAGAAG	0.398																																						ENST00000307128.5																			1	Substitution - Missense(1)	p.R61C(1)	large_intestine(1)	endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(181-183)Cgt>Tgt		myozenin 2							135.0	126.0	129.0					4																	120072131		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120072131C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.181C>T	4.37:g.120072131C>T	ENSP00000306997:p.Arg61Cys						p.R61C	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			3	394	+			61						Missense_Mutation	SNP	ENST00000307128.5	37	c.181C>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989295	0.93106	.	.	ENSG00000172399	ENST00000307128	D	0.82619	-1.63	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-11.1782	18.7213	0.91694	0.0:1.0:0.0:0.0	.	61	Q9NPC6	MYOZ2_HUMAN	C	61	ENSP00000306997:R61C	ENSP00000306997:R61C	R	+	1	0	MYOZ2	120291579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.715000	0.92844	0.650000	0.86243	CGT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			8	74	0	0	0	1	0	8	74				
RGS9	8787	broad.mit.edu	37	17	63221354	63221354	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:63221354C>T	ENST00000262406.9	+	18	1709	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	RGS9_ENST00000443584.3_Missense_Mutation_p.P545S|RGS9_ENST00000449996.3_Missense_Mutation_p.P545S	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	548				GSMAPR -> WSGANP (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GTCCATGGCCCCCCGTGGGCC	0.697																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1633-1635)Ccc>Tcc		regulator of G-protein signaling 9							72.0	81.0	78.0					17																	63221354		1982	4150	6132	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221354C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1642C>T	17.37:g.63221354C>T	ENSP00000262406:p.Pro548Ser					RGS9_ENST00000262406.9_Missense_Mutation_p.P548S|RGS9_ENST00000443584.3_Missense_Mutation_p.P545S	p.P545S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			18	1705	+			548	GSMAPR -> WSGANP (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1633C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.998466	0.00435	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.27256	1.68;1.68	3.77	-3.61	0.04556	.	2.876290	0.00714	N	0.000853	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.11991	-1.0565	10	0.15066	T	0.55	.	0.5564	0.00671	0.3966:0.1853:0.2181:0.1999	.	548;548;545	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	S	548;545	ENSP00000262406:P548S;ENSP00000396329:P545S	ENSP00000262406:P548S	P	+	1	0	RGS9	60651816	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.396000	0.07278	-0.345000	0.08325	0.491000	0.48974	CCC		0.697	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		6	151	0	0	0	1	0	6	151				
LRRC17	10234	broad.mit.edu	37	7	102584658	102584658	+	Splice_Site	SNP	C	C	T	rs149961330		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:102584658C>T	ENST00000339431.4	+	4	1225	c.930C>T	c.(928-930)gcC>gcT	p.A310A	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	310					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTTTCCAGCCGCTTTTTTAG	0.313																																						ENST00000339431.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.e4-1		leucine rich repeat containing 17		C	,,,	0,4274		0,0,2137	62.0	68.0	66.0		930,,,	4.8	1.0	7	dbSNP_134	66	1,8569		0,1,4284	no	coding-synonymous-near-splice,intron,utr-3,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	,,,	0,1,6421	TT,TC,CC		0.0117,0.0,0.0078	,,,	310/442,,,	102584658	1,12843	2137	4285	6422	SO:0001630	splice_region_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584658C>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.929-1C>T	7.37:g.102584658C>T						LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron	p.A310_splice	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN			4	1225	+			310					Q13288|Q6UWA7|Q75MG5	Splice_Site	SNP	ENST00000339431.4	37	c.928_splice	CCDS34721.1																																																																																				0.313	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	Silent	7	96	0	0	0	1	0	7	96				
ASB12	142689	broad.mit.edu	37	X	63444817	63444817	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:63444817C>G	ENST00000396130.2	-	1	686	c.687G>C	c.(685-687)gaG>gaC	p.E229D	MTMR8_ENST00000453546.1_Missense_Mutation_p.E613D|ASB12_ENST00000362002.2_Missense_Mutation_p.E238D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	229					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GCTGGATATACTCTGGCTCAC	0.488																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1837-1839)gaG>gaC		myotubularin related protein 8							76.0	64.0	68.0					X																	63444817		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444817C>G	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.687G>C	X.37:g.63444817C>G	ENSP00000379435:p.Glu229Asp					ASB12_ENST00000396130.2_Missense_Mutation_p.E229D|ASB12_ENST00000362002.2_Missense_Mutation_p.E238D	p.E613D			Q96EF0	MTMR8_HUMAN			10	1928	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1839G>C		.	.	.	.	.	.	.	.	.	.	C	15.64	2.892608	0.52121	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.55413	0.52;0.52;0.52	4.06	2.27	0.28462	Ankyrin repeat-containing domain (3);	0.110697	0.64402	D	0.000010	T	0.46328	0.1387	N	0.25789	0.76	0.19300	N	0.999976	D;D	0.61697	0.99;0.99	P;P	0.60886	0.88;0.829	T	0.27938	-1.0059	10	0.18276	T	0.48	-5.4416	4.3778	0.11279	0.1833:0.6014:0.0:0.2152	.	613;229	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	238;229;206;613	ENSP00000355195:E238D;ENSP00000379435:E229D;ENSP00000394003:E613D	ENSP00000354626:E206D	E	-	3	2	ASB12;MTMR8	63361542	0.939000	0.31865	1.000000	0.80357	0.886000	0.51366	0.063000	0.14410	0.866000	0.35629	0.468000	0.43344	GAG		0.488	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	19	0	0	0	1	0	10	19				
AIM1	202	broad.mit.edu	37	6	106975299	106975299	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:106975299A>G	ENST00000369066.3	+	5	3795	c.3308A>G	c.(3307-3309)gAg>gGg	p.E1103G		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAAGAAGCAGAGTCTGATAAG	0.408																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3307-3309)gAg>gGg		absent in melanoma 1							249.0	238.0	242.0					6																	106975299		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106975299A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3308A>G	6.37:g.106975299A>G	ENSP00000358062:p.Glu1103Gly						p.E1103G	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3795	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1103			Beta/gamma crystallin 'Greek key' 2.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3308A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	7.484	0.649343	0.14516	.	.	ENSG00000112297	ENST00000369066	T	0.73047	-0.71	5.29	1.17	0.20885	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	1.155210	0.06117	N	0.668165	T	0.36166	0.0957	L	0.38838	1.175	0.09310	N	0.999999	B	0.17465	0.022	B	0.15870	0.014	T	0.25572	-1.0128	10	0.46703	T	0.11	.	2.88	0.05644	0.4829:0.1153:0.0666:0.3352	.	1103	Q9Y4K1	AIM1_HUMAN	G	1103	ENSP00000358062:E1103G	ENSP00000358062:E1103G	E	+	2	0	AIM1	107081992	0.018000	0.18449	0.403000	0.26384	0.129000	0.20672	0.782000	0.26788	0.378000	0.24764	0.528000	0.53228	GAG		0.408	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			6	224	0	0	0	1	0	6	224				
HKDC1	80201	broad.mit.edu	37	10	71003048	71003048	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:71003048G>A	ENST00000354624.5	+	7	935	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	HKDC1_ENST00000395086.2_Missense_Mutation_p.G268R	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	268	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGGGACGACGGGGCCCTGGA	0.587																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(802-804)Ggg>Agg		hexokinase domain containing 1							93.0	91.0	92.0					10																	71003048		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71003048G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.802G>A	10.37:g.71003048G>A	ENSP00000346643:p.Gly268Arg					HKDC1_ENST00000395086.2_Missense_Mutation_p.G268R	p.G268R	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			7	935	+			268					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.802G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079320	0.94050	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96716	-4.1;-4.1	5.23	5.23	0.72850	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	P	0.56612	0.802	D	0.98192	1.0463	10	0.87932	D	0	-28.2834	18.982	0.92758	0.0:0.0:1.0:0.0	.	268	Q2TB90	HKDC1_HUMAN	R	268	ENSP00000346643:G268R;ENSP00000378521:G268R	ENSP00000346643:G268R	G	+	1	0	HKDC1	70673054	1.000000	0.71417	0.885000	0.34714	0.751000	0.42716	9.608000	0.98331	2.721000	0.93114	0.655000	0.94253	GGG		0.587	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		5	105	0	0	0	1	0	5	105				
POLR2A	5430	broad.mit.edu	37	17	7407048	7407048	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7407048C>T	ENST00000322644.6	+	19	3577	c.3178C>T	c.(3178-3180)Ctc>Ttc	p.L1060F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1060					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGAGTTTCGGCTCAGTGGGGA	0.557																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3178-3180)Ctc>Ttc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							74.0	61.0	66.0					17																	7407048		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7407048C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3178C>T	17.37:g.7407048C>T	ENSP00000314949:p.Leu1060Phe						p.L1060F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			19	3577	+		Prostate(122;0.173)	1060					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3178C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207211	0.95033	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.70869	-0.52	5.91	5.91	0.95273	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.91687	0.5363	10	0.87932	D	0	-16.2349	19.07	0.93130	0.0:1.0:0.0:0.0	.	1060	P24928	RPB1_HUMAN	F	1016;1060	ENSP00000314949:L1060F	ENSP00000314949:L1060F	L	+	1	0	SLC35G6	7347772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.319000	0.65835	2.793000	0.96121	0.655000	0.94253	CTC		0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	20	0	0	0	1	0	3	20				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240504	39240504	+	Missense_Mutation	SNP	A	A	G	rs11655310	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:39240504A>G	ENST00000391417.4	+	1	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	16	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		S -> G. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S16G(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607													g|||	3114	0.621805	0.8873	0.6297	5008	,	,		13919	0.3938		0.6153	False		,,,				2504	0.499					ENST00000391417.4																			2	Substitution - Missense(2)	p.S16G(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(46-48)Agc>Ggc		keratin associated protein 4-7							7.0	16.0	13.0					17																	39240504		647	1547	2194	SO:0001583	missense	100132476							g.chr17:39240504A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.46A>G	17.37:g.39240504A>G	ENSP00000375236:p.Ser16Gly						p.S16G	NM_033061.3	NP_149050.3					1	46	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.46A>G	CCDS45673.1	1184	0.5421245421245421	392	0.7967479674796748	210	0.580110497237569	193	0.3374125874125874	389	0.5131926121372031	.	0.007	-1.989467	0.00439	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00591	6.35	3.09	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	7	0.02654	T	1	.	3.8452	0.08931	0.1259:0.0:0.4559:0.4182	rs11655310	16	Q9BYR0	KRA47_HUMAN	G	16	ENSP00000375236:S16G	ENSP00000375236:S16G	S	+	1	0	KRTAP4-9;KRTAP4-7	36494030	0.673000	0.27539	0.190000	0.23270	0.015000	0.08874	0.317000	0.19487	0.103000	0.17682	-0.355000	0.07637	AGC		0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	53	0	0	0	1	0	4	53				
WDR35	57539	broad.mit.edu	37	2	20132099	20132099	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20132099A>G	ENST00000345530.3	-	24	2916	c.2801T>C	c.(2800-2802)aTa>aCa	p.I934T	WDR35_ENST00000281405.4_Missense_Mutation_p.I923T|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	934					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGAGTTCTATGGCATCAAG	0.333																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2800-2802)aTa>aCa		WD repeat domain 35							117.0	115.0	116.0					2																	20132099		2202	4299	6501	SO:0001583	missense	57539							g.chr2:20132099A>G	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2801T>C	2.37:g.20132099A>G	ENSP00000314444:p.Ile934Thr					WDR35_ENST00000281405.4_Missense_Mutation_p.I923T|WDR35_ENST00000416055.2_Intron	p.I934T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			24	2916	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		934					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2801T>C	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333977	0.81801	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.27104	1.69;1.69	5.16	5.16	0.70880	.	0.147759	0.64402	D	0.000014	T	0.38719	0.1051	M	0.81112	2.525	0.80722	D	1	B;P	0.44044	0.374;0.825	B;P	0.45794	0.22;0.493	T	0.29761	-1.0001	10	0.34782	T	0.22	-10.7223	14.4643	0.67472	1.0:0.0:0.0:0.0	.	923;934	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	934;923	ENSP00000314444:I934T;ENSP00000281405:I923T	ENSP00000281405:I923T	I	-	2	0	WDR35	19995580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.215000	0.95146	2.084000	0.62774	0.533000	0.62120	ATA		0.333	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		5	84	0	0	0	1	0	5	84				
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:106110177G>C	ENST00000390545.2	-	0	440							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGTCTTCGTGGCTCACGT	0.602																																						ENST00000390545.2																			0																				156.0	138.0	144.0					14																	106110177		2143	4239	6382			0							g.chr14:106110177G>C	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110177G>C														0	440	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		4	130	0	0	0	1	0	4	130				
DNAH2	146754	broad.mit.edu	37	17	7695278	7695278	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7695278T>A	ENST00000572933.1	+	45	8404	c.6944T>A	c.(6943-6945)aTg>aAg	p.M2315K	DNAH2_ENST00000389173.2_Missense_Mutation_p.M2315K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2315					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGTAGAGATGACATTTGTG	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6943-6945)aTg>aAg		dynein, axonemal, heavy chain 2							211.0	189.0	196.0					17																	7695278		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695278T>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6944T>A	17.37:g.7695278T>A	ENSP00000458355:p.Met2315Lys					DNAH2_ENST00000389173.2_Missense_Mutation_p.M2315K	p.M2315K			Q9P225	DYH2_HUMAN			45	8404	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2315					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6944T>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794102	0.16327	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.19806	2.12	4.98	4.98	0.66077	.	0.229247	0.36482	N	0.002561	T	0.11793	0.0287	N	0.16266	0.395	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05886	-1.0858	10	0.05833	T	0.94	.	13.8009	0.63199	0.0:0.0:0.0:1.0	.	2315	Q9P225	DYH2_HUMAN	K	2315	ENSP00000373825:M2315K	ENSP00000353818:M2315K	M	+	2	0	DNAH2	7636003	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.887000	0.75616	2.088000	0.63022	0.523000	0.50628	ATG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	120	0	0	0	1	0	18	120				
SMC1A	8243	broad.mit.edu	37	X	53432827	53432827	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:53432827T>C	ENST00000322213.4	-	10	1734	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	SMC1A_ENST00000375340.6_Missense_Mutation_p.K302R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	536	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCCCAAAACCTTGGTTACAGC	0.488																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1606-1608)aAg>aGg		structural maintenance of chromosomes 1A							122.0	101.0	108.0					X																	53432827		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432827T>C	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1607A>G	X.37:g.53432827T>C	ENSP00000323421:p.Lys536Arg					SMC1A_ENST00000375340.6_Missense_Mutation_p.K302R	p.K536R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			10	1734	-			536			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1607A>G	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581156	0.86748	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;T	0.85702	-2.02;3.3	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.97110	0.976;0.995;1.0	D	0.91880	0.5515	10	0.72032	D	0.01	.	13.8218	0.63325	0.0:0.0:0.0:1.0	.	302;514;536	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	R	536;302	ENSP00000323421:K536R;ENSP00000364489:K302R	ENSP00000323421:K536R	K	-	2	0	SMC1A	53449552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.955000	0.87856	1.976000	0.57569	0.486000	0.48141	AAG		0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	26	0	0	0	1	0	4	26				
ZNF605	100289635	broad.mit.edu	37	12	133502381	133502381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:133502381C>A	ENST00000360187.4	-	5	1852	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E533*|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		AAGGGCTTTTCTCCAGTATGG	0.433																																						ENST00000360187.4																			0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1504-1506)Gaa>Taa		zinc finger protein 605							34.0	36.0	35.0					12																	133502381		2201	4278	6479	SO:0001587	stop_gained	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502381C>A	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1504G>T	12.37:g.133502381C>A	ENSP00000353314:p.Glu502*					ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E533*	p.E502*	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	1852	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	502					B3KVG4|D3DXJ0|Q86T91	Nonsense_Mutation	SNP	ENST00000360187.4	37	c.1504G>T	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608154	0.98387	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	.	.	.	3.96	3.96	0.45880	.	0.000000	0.32918	N	0.005494	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3338	0.74234	0.0:1.0:0.0:0.0	.	.	.	.	X	502;533	.	ENSP00000353314:E502X	E	-	1	0	ZNF605	132012454	0.975000	0.34042	0.943000	0.38184	0.988000	0.76386	4.404000	0.59735	2.213000	0.71641	0.561000	0.74099	GAA		0.433	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		5	31	1	0	0.00448238	1	0.00468926	5	31				
ARHGAP4	393	broad.mit.edu	37	X	153186148	153186148	+	Missense_Mutation	SNP	C	C	A	rs147143769	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:153186148C>A	ENST00000350060.5	-	5	654	c.613G>T	c.(613-615)Gct>Tct	p.A205S	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A182S|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A205S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A184S	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	205					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCACCAGCGGTGGTGGTG	0.682																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(613-615)Gct>Tct		Rho GTPase activating protein 4							41.0	39.0	39.0					X																	153186148		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186148C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.613G>T	X.37:g.153186148C>A	ENSP00000203786:p.Ala205Ser					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A182S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A205S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A184S	p.A205S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			5	670	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		205					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.613G>T	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.131|0.131	-1.113145|-1.113145	0.01799|0.01799	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000418750	T;T;T;T|.	0.53857|.	2.93;0.6;0.6;0.6|.	4.76|4.76	-3.98|-3.98	0.04082|0.04082	.|.	0.612541|.	0.13651|.	N|.	0.372259|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.28933|.	0.228;0.104|.	B;B|.	0.26517|.	0.07;0.044|.	T|T	0.32534|0.32534	-0.9903|-0.9903	10|6	0.02654|0.87932	T|D	1|0	.|.	6.5087|6.5087	0.22210|0.22210	0.0:0.3463:0.1231:0.5306|0.0:0.3463:0.1231:0.5306	.|.	205;205|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	S|L	205;205;184;182|52	ENSP00000359045:A205S;ENSP00000203786:A205S;ENSP00000359033:A184S;ENSP00000444169:A182S|.	ENSP00000203786:A205S|ENSP00000385042:R214L	A|R	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839342|152839342	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.427000|-2.427000	0.01026|0.01026	-1.150000|-1.150000	0.02840|0.02840	-0.297000|-0.297000	0.09499|0.09499	GCT|CGC		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		8	24	1	0	0.0381472	1	0.0387166	8	24				
GRIN2B	2904	broad.mit.edu	37	12	14018761	14018761	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:14018761C>T	ENST00000609686.1	-	2	591	c.382G>A	c.(382-384)Ggg>Agg	p.G128R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	128					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGGAGCCCCCGTGGATGCCC	0.537																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(382-384)Ggg>Agg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						105.0	120.0	115.0					12																	14018761		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018761C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.382G>A	12.37:g.14018761C>T	ENSP00000477455:p.Gly128Arg						p.G128R	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	591	-			128					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.382G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029067	0.93518	.	.	ENSG00000150086	ENST00000279593	D	0.86230	-2.09	5.57	5.57	0.84162	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	19.556	0.95347	0.0:1.0:0.0:0.0	.	128	Q13224	NMDE2_HUMAN	R	128	ENSP00000279593:G128R	ENSP00000279593:G128R	G	-	1	0	GRIN2B	13910028	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.813000	0.86123	2.602000	0.87976	0.563000	0.77884	GGG		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			12	210	0	0	0	1	0	12	210				
AHNAK	79026	broad.mit.edu	37	11	62300004	62300004	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:62300004G>A	ENST00000378024.4	-	5	2159	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	629					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCATCTTGGGCATTTTCAGG	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1885-1887)Ccc>Tcc		AHNAK nucleoprotein							113.0	103.0	106.0					11																	62300004		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300004G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1885C>T	11.37:g.62300004G>A	ENSP00000367263:p.Pro629Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P629S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2159	-		Melanoma(852;0.155)	629					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1885C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397856	0.42512	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.59	3.68	0.42216	.	.	.	.	.	T	0.28962	0.0719	M	0.88775	2.98	0.26897	N	0.96718	D	0.76494	0.999	D	0.87578	0.998	T	0.09509	-1.0671	9	0.46703	T	0.11	.	12.2806	0.54760	0.0847:0.0:0.9153:0.0	.	629	Q09666	AHNK_HUMAN	S	629	ENSP00000367263:P629S	ENSP00000367263:P629S	P	-	1	0	AHNAK	62056580	1.000000	0.71417	0.991000	0.47740	0.760000	0.43138	3.940000	0.56599	0.932000	0.37266	0.305000	0.20034	CCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	118	0	0	0	1	0	14	118				
ZFAND4	93550	broad.mit.edu	37	10	46122478	46122478	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:46122478G>A	ENST00000344646.5	-	7	1008	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.R191C	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	265							zinc ion binding (GO:0008270)										AATCGGTGGCGAGATGGTGCA	0.463																																						ENST00000374366.3																			0											c.(571-573)Cgc>Tgc		zinc finger, AN1-type domain 4							76.0	69.0	72.0					10																	46122478		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46122478G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.793C>T	10.37:g.46122478G>A	ENSP00000339484:p.Arg265Cys					ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R265C|ZFAND4_ENST00000374371.2_Intron	p.R191C			Q86XD8	ANUB1_HUMAN			8	1036	-			265					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.571C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063492	0.76187	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.32988	1.44;1.43	5.47	5.47	0.80525	.	1.633390	0.03814	N	0.266426	T	0.61899	0.2384	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29181	-1.0020	10	0.62326	D	0.03	-18.4853	16.8259	0.85931	0.0:0.0:1.0:0.0	.	265	Q86XD8	ANUB1_HUMAN	C	265;191;147	ENSP00000339484:R265C;ENSP00000363486:R191C	ENSP00000339484:R265C	R	-	1	0	ANUBL1	45442484	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	5.903000	0.69877	2.574000	0.86865	0.650000	0.86243	CGC		0.463	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		4	88	0	0	0	1	0	4	88				
MYO9A	4649	broad.mit.edu	37	15	72324844	72324844	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr15:72324844G>A	ENST00000356056.5	-	3	1398	c.926C>T	c.(925-927)aCt>aTt	p.T309I	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T309I|MYO9A_ENST00000564571.1_Missense_Mutation_p.T309I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T309I|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	309	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCAAGTACAGTGCCTGTTTC	0.358																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(925-927)aCt>aTt		myosin IXA							101.0	98.0	99.0					15																	72324844		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72324844G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.926C>T	15.37:g.72324844G>A	ENSP00000348349:p.Thr309Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.T309I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T309I|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.T309I|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA	p.T309I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			3	1398	-			309			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.926C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107704	0.37242	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87809	-2.3;-2.3;-2.3	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	T	0.76962	0.4061	N	0.16098	0.37	0.58432	D	0.999999	B;B;B	0.15473	0.002;0.013;0.007	B;B;B	0.23018	0.008;0.02;0.043	T	0.71404	-0.4603	9	0.07482	T	0.82	.	17.3543	0.87331	0.0:0.0:1.0:0.0	.	309;309;309	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	309	ENSP00000348349:T309I;ENSP00000399162:T309I;ENSP00000398250:T309I	ENSP00000261864:T309I	T	-	2	0	MYO9A	70111898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.226000	0.72277	2.377000	0.81083	0.561000	0.74099	ACT		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		4	45	0	0	0	1	0	4	45				
OR5M3	219482	broad.mit.edu	37	11	56237680	56237680	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:56237680C>A	ENST00000312240.2	-	1	334	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGAAGAAACACTGTACTAAAC	0.368																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(292-294)caG>caT		olfactory receptor, family 5, subfamily M, member 3							90.0	85.0	87.0					11																	56237680		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237680C>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.294G>T	11.37:g.56237680C>A	ENSP00000312208:p.Gln98His						p.Q98H	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	334	-	Esophageal squamous(21;0.00448)		98					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.294G>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353557	0.41700	.	.	ENSG00000174937	ENST00000312240	T	0.00472	7.19	5.13	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000441	T	0.02012	0.0063	H	0.97186	3.955	0.19775	N	0.999952	D	0.89917	1.0	D	0.91635	0.999	T	0.21484	-1.0244	10	0.87932	D	0	-7.4145	7.7116	0.28682	0.0:0.5712:0.0:0.4288	.	98	Q8NGP4	OR5M3_HUMAN	H	98	ENSP00000312208:Q98H	ENSP00000312208:Q98H	Q	-	3	2	OR5M3	55994256	0.000000	0.05858	0.875000	0.34327	0.705000	0.40729	-0.952000	0.03881	0.193000	0.20303	0.478000	0.44815	CAG		0.368	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		9	119	1	0	2.17888e-05	1	2.55455e-05	9	119				
C2CD3	26005	broad.mit.edu	37	11	73789474	73789474	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:73789474T>C	ENST00000334126.7	-	23	4515	c.4289A>G	c.(4288-4290)cAt>cGt	p.H1430R	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1430R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1430					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTATTCTTATGAATGTGGTT	0.478																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4288-4290)cAt>cGt		C2 calcium-dependent domain containing 3							69.0	64.0	66.0					11																	73789474		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789474T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4289A>G	11.37:g.73789474T>C	ENSP00000334379:p.His1430Arg					C2CD3_ENST00000313663.7_Missense_Mutation_p.H1430R	p.H1430R			Q4AC94	C2CD3_HUMAN			23	4515	-	Breast(11;4.16e-06)		1430					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4289A>G		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717931	0.48622	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.13778	2.95;2.96;2.56	5.3	4.1	0.47936	.	0.275476	0.41097	D	0.000952	T	0.24890	0.0604	L	0.54323	1.7	0.31757	N	0.63379	D	0.71674	0.998	P	0.62649	0.905	T	0.12142	-1.0559	10	0.49607	T	0.09	-12.9818	7.2391	0.26086	0.0:0.0785:0.1481:0.7734	.	1430	Q4AC94-1	.	R	1430;1430;1411;238	ENSP00000334379:H1430R;ENSP00000323339:H1430R;ENSP00000388750:H238R	ENSP00000323339:H1430R	H	-	2	0	C2CD3	73467122	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.171000	0.50824	2.000000	0.58554	0.533000	0.62120	CAT		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		8	40	0	0	0	1	0	8	40				
TUBB8P7	197331	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G	rs376229952		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:90161571A>G	ENST00000564451.1	+	0	924				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CAACTGGGCCAAGGGACGCTA	0.577																																						ENST00000567960.1																			0																																																			0							g.chr16:90161571A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161571A>G						TUBB8P7_ENST00000564451.1_RNA								0	307	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.577	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	37	0	0	0	1	0	3	37				
FLNC	2318	broad.mit.edu	37	7	128478662	128478662	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:128478662G>T	ENST00000325888.8	+	8	1477	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C	FLNC_ENST00000346177.6_Missense_Mutation_p.G406C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	406					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCAGGGGCCGGCACTGGCGA	0.667																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1216-1218)Ggc>Tgc		filamin C, gamma							61.0	74.0	69.0					7																	128478662		2155	4246	6401	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478662G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1216G>T	7.37:g.128478662G>T	ENSP00000327145:p.Gly406Cys					FLNC_ENST00000346177.6_Missense_Mutation_p.G406C	p.G406C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1477	+			406					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1216G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744129	0.69418	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.72282	-0.64;-0.64	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93425	0.6780	10	0.87932	D	0	.	18.0334	0.89292	0.0:0.0:1.0:0.0	.	406;406	Q14315-2;Q14315	.;FLNC_HUMAN	C	406	ENSP00000327145:G406C;ENSP00000344002:G406C	ENSP00000327145:G406C	G	+	1	0	FLNC	128265898	1.000000	0.71417	0.986000	0.45419	0.187000	0.23431	7.994000	0.88315	2.590000	0.87494	0.561000	0.74099	GGC		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	155	1	0	0.000157383	1	0.000172614	6	155				
KCNU1	157855	broad.mit.edu	37	8	36780118	36780118	+	Missense_Mutation	SNP	G	G	A	rs202006761		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:36780118G>A	ENST00000399881.3	+	24	2744	c.2707G>A	c.(2707-2709)Ggc>Agc	p.G903S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	903	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTTTTTTCCGGCAGCTTCTT	0.493																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2707-2709)Ggc>Agc		potassium channel, subfamily U, member 1							93.0	92.0	92.0					8																	36780118		1873	4118	5991	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36780118G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2707G>A	8.37:g.36780118G>A	ENSP00000382770:p.Gly903Ser						p.G903S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	24	2744	+			903			Segment S10.			Missense_Mutation	SNP	ENST00000399881.3	37	c.2707G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	1.888	-0.456214	0.04540	.	.	ENSG00000215262	ENST00000399881	T	0.37235	1.21	5.42	3.56	0.40772	.	0.460512	0.15350	U	0.267040	T	0.20455	0.0492	L	0.31207	0.915	0.09310	N	0.999991	P	0.42456	0.78	B	0.31946	0.138	T	0.07271	-1.0781	10	0.34782	T	0.22	0.165	7.7485	0.28883	0.0836:0.0:0.7559:0.1605	.	903	A8MYU2	KCNU1_HUMAN	S	903	ENSP00000382770:G903S	ENSP00000382770:G903S	G	+	1	0	KCNU1	36899276	0.897000	0.30589	0.249000	0.24280	0.220000	0.24768	2.658000	0.46733	1.294000	0.44707	0.655000	0.94253	GGC		0.493	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		3	43	0	0	0	1	0	3	43				
AK5	26289	broad.mit.edu	37	1	77763407	77763407	+	Silent	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:77763407C>A	ENST00000354567.2	+	4	842	c.579C>A	c.(577-579)gcC>gcA	p.A193A	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Silent_p.A167A	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	193	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGAATTGGCCCCACAGGTAC	0.358																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(499-501)gcC>gcA		adenylate kinase 5							86.0	87.0	87.0					1																	77763407		2203	4300	6503	SO:0001819	synonymous_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763407C>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.579C>A	1.37:g.77763407C>A						AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Silent_p.A193A	p.A167A	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			4	1527	+			193					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	c.501C>A	CCDS675.1																																																																																				0.358	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		7	78	1	0	0.000157383	1	0.000172614	7	78				
MYADM	91663	broad.mit.edu	37	19	54377258	54377258	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:54377258C>T	ENST00000391769.2	+	3	755	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	MYADM_ENST00000391771.1_Missense_Mutation_p.R159W|MYADM_ENST00000391770.4_Missense_Mutation_p.R159W|MYADM_ENST00000336967.3_Missense_Mutation_p.R159W|MYADM_ENST00000391768.2_Missense_Mutation_p.R159W|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	159	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCTGGACCCGGGCCCGGCC	0.652																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(475-477)Cgg>Tgg		myeloid-associated differentiation marker							45.0	47.0	46.0					19																	54377258		2203	4299	6502	SO:0001583	missense	91663					integral to membrane		g.chr19:54377258C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.475C>T	19.37:g.54377258C>T	ENSP00000375649:p.Arg159Trp					MYADM_ENST00000391768.2_Missense_Mutation_p.R159W|MYADM_ENST00000391770.4_Missense_Mutation_p.R159W|MYADM_ENST00000391771.1_Missense_Mutation_p.R159W|MYADM_ENST00000336967.3_Missense_Mutation_p.R159W	p.R159W	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	755	+	Ovarian(34;0.19)		159			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.475C>T	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326945	0.41197	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	.	.	.	4.21	0.568	0.17333	Marvel (1);	0.068332	0.53938	D	0.000042	T	0.52549	0.1741	L	0.36672	1.1	0.45541	D	0.998495	D	0.89917	1.0	D	0.65573	0.936	T	0.46665	-0.9175	9	0.38643	T	0.18	-14.402	5.8374	0.18615	0.2463:0.6254:0.0:0.1283	.	159	Q96S97	MYADM_HUMAN	W	159;159;159;159;159;159;122;159;159	.	ENSP00000337222:R159W	R	+	1	2	MYADM	59069070	1.000000	0.71417	0.861000	0.33841	0.781000	0.44180	0.904000	0.28491	0.374000	0.24650	0.313000	0.20887	CGG		0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		4	73	0	0	0	1	0	4	73				
ZNF839	55778	broad.mit.edu	37	14	102798009	102798009	+	Silent	SNP	T	T	C	rs562616740		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:102798009T>C	ENST00000558850.1	+	3	1244	c.894T>C	c.(892-894)aaT>aaC	p.N298N	ZNF839_ENST00000442396.2_Silent_p.N414N|ZNF839_ENST00000262236.5_Silent_p.N298N|ZNF839_ENST00000559185.1_Silent_p.N298N	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	298							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACCAGAAAATGGAGCTCTTT	0.463																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(892-894)aaT>aaC		zinc finger protein 839							58.0	57.0	57.0					14																	102798009		1947	4144	6091	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102798009T>C	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.894T>C	14.37:g.102798009T>C						ZNF839_ENST00000559185.1_Silent_p.N298N|ZNF839_ENST00000558850.1_Silent_p.N298N|ZNF839_ENST00000442396.2_Silent_p.N414N	p.N298N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			3	1249	+			298					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.894T>C	CCDS58336.1																																																																																				0.463	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		3	18	0	0	0	1	0	3	18				
HCAR3	8843	broad.mit.edu	37	12	123200861	123200861	+	Missense_Mutation	SNP	A	A	G	rs202161035	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:123200861A>G	ENST00000528880.2	-	1	578	c.424T>C	c.(424-426)Tgg>Cgg	p.W142R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	142					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GCTGCTGTCCAATTGGAGATC	0.542													a|||	48	0.00958466	0.0	0.0014	5008	,	,		20111	0.0		0.001	False		,,,				2504	0.047					ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(424-426)Tgg>Cgg		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)	A	ARG/TRP	3,4403	6.2+/-15.9	0,3,2200	112.0	107.0	109.0		424	-1.5	0.0	12		109	3,8597	2.2+/-6.3	0,3,4297	no	missense	HCAR3	NM_006018.2	101	0,6,6497	GG,GA,AA		0.0349,0.0681,0.0461	benign	142/388	123200861	6,13000	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200861A>G	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.424T>C	12.37:g.123200861A>G	ENSP00000436714:p.Trp142Arg					HCAR1_ENST00000356987.2_Intron	p.W142R	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	578	-			142					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.424T>C	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.417547	0.00013	6.81E-4	3.49E-4	ENSG00000255398	ENST00000528880	T	0.31247	1.5	3.41	-1.55	0.08558	.	.	.	.	.	T	0.04497	0.0123	N	0.00174	-1.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38156	-0.9674	9	0.02654	T	1	.	3.3871	0.07276	0.228:0.0:0.4367:0.3353	.	142	E9PI97	.	R	142	ENSP00000436714:W142R	ENSP00000436714:W142R	W	-	1	0	HCAR3	121766814	0.990000	0.36364	0.005000	0.12908	0.143000	0.21401	0.082000	0.14847	-0.211000	0.10124	-1.392000	0.01152	TGG		0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		4	111	0	0	0	1	0	4	111				
UGGT2	55757	broad.mit.edu	37	13	96555250	96555250	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr13:96555250T>G	ENST00000376747.3	-	21	2430	c.2360A>C	c.(2359-2361)aAc>aCc	p.N787T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	787					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATAGCTGTGTTCTCTTCATT	0.338																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2359-2361)aAc>aCc		UDP-glucose glycoprotein glucosyltransferase 2							78.0	79.0	79.0					13																	96555250		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555250T>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2360A>C	13.37:g.96555250T>G	ENSP00000365938:p.Asn787Thr						p.N787T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2430	-			787					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2360A>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193916	0.38707	.	.	ENSG00000102595	ENST00000376747	T	0.08008	3.14	5.66	4.43	0.53597	.	0.047498	0.85682	D	0.000000	T	0.10723	0.0262	M	0.66939	2.045	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.06752	-1.0809	10	0.25751	T	0.34	-10.0978	9.8192	0.40871	0.0:0.1408:0.0:0.8592	.	787	Q9NYU1	UGGG2_HUMAN	T	787	ENSP00000365938:N787T	ENSP00000365938:N787T	N	-	2	0	UGGT2	95353251	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.507000	0.35758	0.929000	0.37192	0.528000	0.53228	AAC		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	56	0	0	0	1	0	7	56				
CCDC80	151887	broad.mit.edu	37	3	112358390	112358390	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:112358390C>A	ENST00000206423.3	-	2	1316	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.E121D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	121					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGAGGACCCCTCATCTCTGA	0.592																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(361-363)gaG>gaT		coiled-coil domain containing 80							87.0	83.0	84.0					3																	112358390		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358390C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.363G>T	3.37:g.112358390C>A	ENSP00000206423:p.Glu121Asp					CCDC80_ENST00000439685.2_Missense_Mutation_p.E121D|CCDC80_ENST00000475181.1_5'UTR	p.E121D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1316	-			121					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.363G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740843	0.49151	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.50548	0.74;0.74	5.35	3.56	0.40772	.	0.118480	0.56097	D	0.000029	T	0.27027	0.0662	N	0.19112	0.55	0.80722	D	1	B;B;B	0.24186	0.099;0.06;0.06	B;B;B	0.22753	0.041;0.018;0.018	T	0.05649	-1.0872	10	0.25106	T	0.35	-34.0782	4.892	0.13731	0.1512:0.6023:0.0:0.2465	.	132;121;121	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	D	121	ENSP00000206423:E121D;ENSP00000411814:E121D	ENSP00000206423:E121D	E	-	3	2	CCDC80	113841080	0.998000	0.40836	1.000000	0.80357	0.777000	0.43975	0.490000	0.22403	0.823000	0.34589	0.650000	0.86243	GAG		0.592	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	109	1	0	0.00024832	1	0.000268028	4	109				
AGPAT2	10555	broad.mit.edu	37	9	139571468	139571468	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr9:139571468G>C	ENST00000371696.2	-	3	502	c.437C>G	c.(436-438)tCt>tGt	p.S146C	AGPAT2_ENST00000371694.3_Missense_Mutation_p.S146C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S146C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	146					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGCAGTGCTAGAGCGCTGCCG	0.672																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(436-438)tCt>tGt		1-acylglycerol-3-phosphate O-acyltransferase 2							69.0	76.0	74.0					9																	139571468		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571468G>C	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.437C>G	9.37:g.139571468G>C	ENSP00000360761:p.Ser146Cys					AGPAT2_ENST00000371694.3_Missense_Mutation_p.S146C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S146C	p.S146C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	502	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	146					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.437C>G	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487340	0.63962	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.93953	-3.32;-3.32;-3.32	4.86	3.95	0.45737	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.108901	0.64402	D	0.000009	D	0.96147	0.8744	M	0.86502	2.82	0.34189	D	0.671842	D;D	0.62365	0.991;0.987	P;P	0.58520	0.753;0.84	D	0.99655	1.0992	10	0.59425	D	0.04	-21.8683	14.2012	0.65705	0.0:0.1508:0.8492:0.0	.	146;146	O15120-2;O15120	.;PLCB_HUMAN	C	146	ENSP00000360759:S146C;ENSP00000360761:S146C;ENSP00000438919:S146C	ENSP00000360759:S146C	S	-	2	0	AGPAT2	138691289	1.000000	0.71417	0.231000	0.23993	0.554000	0.35429	8.599000	0.90856	1.018000	0.39521	0.563000	0.77884	TCT		0.672	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		18	125	0	0	0	1	0	18	125				
LAMA1	284217	broad.mit.edu	37	18	7049134	7049134	+	Silent	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr18:7049134A>G	ENST00000389658.3	-	5	804	c.711T>C	c.(709-711)gaT>gaC	p.D237D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	237	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGGTCATGAGATCTGCATTGA	0.468																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(709-711)gaT>gaC		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						138.0	115.0	123.0					18																	7049134		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7049134A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.711T>C	18.37:g.7049134A>G							p.D237D	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			5	804	-		Colorectal(10;0.172)	237			Laminin N-terminal.			Silent	SNP	ENST00000389658.3	37	c.711T>C	CCDS32787.1																																																																																				0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		11	93	0	0	0	1	0	11	93				
NOBOX	135935	broad.mit.edu	37	7	144098189	144098189	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:144098189G>C	ENST00000467773.1	-	4	793	c.794C>G	c.(793-795)cCg>cGg	p.P265R	NOBOX_ENST00000483238.1_Missense_Mutation_p.P265R|NOBOX_ENST00000223140.5_Missense_Mutation_p.P180R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	265					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTCACTTCCGGGGGCCCCTG	0.577																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(793-795)cCg>cGg		NOBOX oogenesis homeobox							63.0	62.0	62.0					7																	144098189		1840	4082	5922	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098189G>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.794C>G	7.37:g.144098189G>C	ENSP00000419457:p.Pro265Arg					NOBOX_ENST00000223140.5_Missense_Mutation_p.P180R|NOBOX_ENST00000483238.1_Missense_Mutation_p.P265R	p.P265R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			4	793	-	Melanoma(164;0.14)		265					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.794C>G		.	.	.	.	.	.	.	.	.	.	G	7.412	0.635000	0.14322	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95656	-3.77;-3.77;-3.77	5.13	2.14	0.27477	.	0.450854	0.24070	N	0.041828	D	0.92861	0.7729	L	0.57536	1.79	0.09310	N	1	P	0.49783	0.928	P	0.46172	0.506	D	0.85151	0.0986	10	0.26408	T	0.33	-5.3765	6.4122	0.21698	0.3361:0.0:0.6639:0.0	.	265	O60393	NOBOX_HUMAN	R	265;265;180;54	ENSP00000419565:P265R;ENSP00000419457:P265R;ENSP00000223140:P180R	ENSP00000223140:P180R	P	-	2	0	NOBOX	143729122	0.057000	0.20700	0.005000	0.12908	0.505000	0.33919	0.082000	0.14847	0.240000	0.21263	0.555000	0.69702	CCG		0.577	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		8	32	0	0	0	1	0	8	32				
PITPNM1	9600	broad.mit.edu	37	11	67269981	67269981	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:67269981C>A	ENST00000534749.1	-	2	475	c.287G>T	c.(286-288)cGa>cTa	p.R96L	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R96L|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R96L			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	96					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCACCGGGTTCGGGTGTAGGG	0.657																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(286-288)cGa>cTa		phosphatidylinositol transfer protein, membrane-associated 1							65.0	65.0	65.0					11																	67269981		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269981C>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.287G>T	11.37:g.67269981C>A	ENSP00000437286:p.Arg96Leu					PITPNM1_ENST00000534749.1_Missense_Mutation_p.R96L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R96L	p.R96L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			3	512	-			96					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.287G>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559089	0.86335	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.42	4.42	0.53409	START-like domain (1);	0.232300	0.22273	N	0.062240	T	0.70657	0.3249	M	0.70108	2.13	0.40751	D	0.982916	D;D	0.89917	1.0;0.999	D;D	0.87578	0.992;0.998	T	0.75485	-0.3301	10	0.87932	D	0	-11.4298	14.1459	0.65351	0.0:1.0:0.0:0.0	.	96;96	O00562-2;O00562	.;PITM1_HUMAN	L	96	ENSP00000437286:R96L;ENSP00000398787:R96L;ENSP00000348772:R96L;ENSP00000434046:R96L;ENSP00000432977:R96L;ENSP00000434904:R96L	ENSP00000348772:R96L	R	-	2	0	PITPNM1	67026557	0.999000	0.42202	0.952000	0.39060	0.912000	0.54170	7.417000	0.80156	2.170000	0.68504	0.561000	0.74099	CGA		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		3	57	1	0	0.115264	1	0.115264	3	57				
IGHV1-24	28467	broad.mit.edu	37	14	106733354	106733354	+	RNA	SNP	G	G	T	rs576930597		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:106733354G>T	ENST00000390610.2	-	0	200									immunoglobulin heavy variable 1-24																		ATTCAGTGAGGGTGTATCCGG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		15060	0.0		0.0	False		,,,				2504	0.001					ENST00000390610.2																			0																				175.0	166.0	169.0					14																	106733354		1948	4122	6070			0							g.chr14:106733354G>T	M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733354G>T														0	200	-									RNA	SNP	ENST00000390610.2	37																																																																																						0.562	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325192.1	NG_001019		56	203	1	0	1.57914e-17	1	1.9524e-17	56	203				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	52	0	0	0	1	0	30	52				
SLC38A9	153129	broad.mit.edu	37	5	54923735	54923735	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr5:54923735T>C	ENST00000396865.2	-	15	2095	c.1504A>G	c.(1504-1506)Ata>Gta	p.I502V	SLC38A9_ENST00000416547.2_Missense_Mutation_p.I378V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I502V|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I439V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	502					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATCCCTCCTATGTTTGGGTAG	0.388																																						ENST00000396865.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1504-1506)Ata>Gta		solute carrier family 38, member 9							108.0	94.0	99.0					5																	54923735		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54923735T>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1504A>G	5.37:g.54923735T>C	ENSP00000380074:p.Ile502Val					SLC38A9_ENST00000416547.2_Missense_Mutation_p.I378V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I502V	p.I502V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN			15	2095	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	502					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.1504A>G	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	T	9.786	1.176664	0.21704	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233	T;T;T;T;T;T	0.41065	4.3;4.3;4.3;4.3;4.3;1.01	5.48	5.48	0.80851	.	0.130204	0.64402	D	0.000002	T	0.31575	0.0801	N	0.25332	0.735	0.80722	D	1	B;B	0.32409	0.043;0.37	B;B	0.30316	0.045;0.114	T	0.08432	-1.0722	10	0.31617	T	0.26	0.2228	15.8687	0.79091	0.0:0.0:0.0:1.0	.	439;502	B3KXV1;Q8NBW4	.;S38A9_HUMAN	V	502;502;439;378;439;417	ENSP00000380074:I502V;ENSP00000316596:I502V;ENSP00000420934:I439V;ENSP00000397429:I378V;ENSP00000427335:I439V;ENSP00000423219:I417V	ENSP00000316596:I502V	I	-	1	0	SLC38A9	54959492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.995000	0.70631	2.200000	0.70718	0.460000	0.39030	ATA		0.388	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		7	62	0	0	0	1	0	7	62				
HPX	3263	broad.mit.edu	37	11	6452460	6452460	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:6452460A>T	ENST00000265983.3	-	10	1470	c.1370T>A	c.(1369-1371)cTc>cAc	p.L457H		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	457					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGCCCAGGAGACTGGTCAC	0.527																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1369-1371)cTc>cAc		hemopexin							66.0	62.0	63.0					11																	6452460		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452460A>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1370T>A	11.37:g.6452460A>T	ENSP00000265983:p.Leu457His						p.L457H	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1470	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	457					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1370T>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502366	0.64298	.	.	ENSG00000110169	ENST00000265983	T	0.13901	2.55	5.32	5.32	0.75619	Hemopexin/matrixin (2);	0.360189	0.31976	N	0.006780	T	0.36193	0.0958	M	0.78456	2.415	0.35431	D	0.794078	D	0.76494	0.999	D	0.65010	0.931	T	0.53753	-0.8394	10	0.87932	D	0	-51.2992	13.2374	0.59976	1.0:0.0:0.0:0.0	.	457	P02790	HEMO_HUMAN	H	457	ENSP00000265983:L457H	ENSP00000265983:L457H	L	-	2	0	HPX	6409036	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	4.889000	0.63171	2.032000	0.59987	0.459000	0.35465	CTC		0.527	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		6	52	0	0	0	1	0	6	52				
USP49	25862	broad.mit.edu	37	6	41767589	41767589	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:41767589C>A	ENST00000394253.3	-	5	1978	c.1649G>T	c.(1648-1650)cGg>cTg	p.R550L	USP49_ENST00000297229.2_Missense_Mutation_p.R550L|USP49_ENST00000373006.1_Missense_Mutation_p.R550L|USP49_ENST00000373010.1_Missense_Mutation_p.R550L|USP49_ENST00000373009.3_Missense_Mutation_p.R550L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	550	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAGGTGCAGCCGGAGAACCTG	0.498																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1648-1650)cGg>cTg		ubiquitin specific peptidase 49							177.0	162.0	167.0					6																	41767589		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41767589C>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1649G>T	6.37:g.41767589C>A	ENSP00000377797:p.Arg550Leu					USP49_ENST00000373006.1_Missense_Mutation_p.R550L|USP49_ENST00000373010.1_Missense_Mutation_p.R550L|USP49_ENST00000297229.2_Missense_Mutation_p.R550L|USP49_ENST00000373009.3_Missense_Mutation_p.R550L	p.R550L			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1978	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		550					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1649G>T		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836480	0.91117	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.72505	4.28;4.28;4.28;-0.66;-0.66	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65010	-0.6272	10	0.21540	T	0.41	-19.1745	19.3678	0.94471	0.0:1.0:0.0:0.0	.	550	Q70CQ1-2	.	L	550	ENSP00000377797:R550L;ENSP00000362101:R550L;ENSP00000362100:R550L;ENSP00000362097:R550L;ENSP00000297229:R550L	ENSP00000297229:R550L	R	-	2	0	USP49	41875567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	CGG		0.498	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	87	1	0	8.12818e-05	1	9.21194e-05	6	87				
CBR1	873	broad.mit.edu	37	21	37445106	37445106	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr21:37445106T>G	ENST00000290349.6	+	3	935	c.760T>G	c.(760-762)Ttg>Gtg	p.L254V	SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	254					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CCCTGTGTACTTGGCCCTTTT	0.577																																						ENST00000290349.6																			0				endometrium(2)|kidney(3)	5						c.(760-762)Ttg>Gtg		carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)						65.0	67.0	66.0					21																	37445106		2203	4300	6503	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37445106T>G		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.760T>G	21.37:g.37445106T>G	ENSP00000290349:p.Leu254Val					SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	p.L254V	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN			3	935	+			254					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.760T>G	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723088	0.68959	.	.	ENSG00000159228	ENST00000290349	T	0.14022	2.54	5.85	-0.426	0.12314	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	M	0.75615	2.305	0.80722	D	1	D	0.58620	0.983	P	0.54346	0.749	T	0.04579	-1.0941	10	0.87932	D	0	-9.1504	9.9918	0.41877	0.0:0.328:0.0:0.672	.	254	P16152	CBR1_HUMAN	V	254	ENSP00000290349:L254V	ENSP00000290349:L254V	L	+	1	2	CBR1	36366976	0.996000	0.38824	0.997000	0.53966	0.978000	0.69477	0.601000	0.24119	-0.072000	0.12864	-0.290000	0.09829	TTG		0.577	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			26	24	0	0	0	1	0	26	24				
TYK2	7297	broad.mit.edu	37	19	10476512	10476512	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10476512C>A	ENST00000525621.1	-	7	1173	c.692G>T	c.(691-693)cGg>cTg	p.R231L	TYK2_ENST00000529370.1_Missense_Mutation_p.R231L|TYK2_ENST00000264818.6_Missense_Mutation_p.R231L|TYK2_ENST00000524462.1_Missense_Mutation_p.R46L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	231	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R231Q(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGGCGCAGCCGGGTCAGGGC	0.647																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R231Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(691-693)cGg>cTg		tyrosine kinase 2							13.0	14.0	14.0					19																	10476512		2181	4268	6449	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476512C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.692G>T	19.37:g.10476512C>A	ENSP00000431885:p.Arg231Leu					TYK2_ENST00000524462.1_Missense_Mutation_p.R46L|TYK2_ENST00000264818.6_Missense_Mutation_p.R231L|TYK2_ENST00000529370.1_Missense_Mutation_p.R231L	p.R231L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1173	-			231			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.692G>T	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.140571|2.140571	0.37825|0.37825	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	.|D;T;T;T	.|0.82711	.|-1.64;0.67;0.67;0.67	4.66|4.66	1.14|1.14	0.20703|0.20703	.|FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.|0.387908	.|0.18266	.|N	.|0.146463	D|D	0.83769|0.83769	0.5326|0.5326	M|M	0.77616|0.77616	2.38|2.38	0.09310|0.09310	N|N	1|1	.|D;P	.|0.60160	.|0.987;0.792	.|P;P	.|0.53401	.|0.725;0.587	T|T	0.74586|0.74586	-0.3616|-0.3616	5|10	.|0.87932	.|D	.|0	-22.8988|-22.8988	2.5899|2.5899	0.04839|0.04839	0.216:0.4783:0.0:0.3057|0.216:0.4783:0.0:0.3057	.|.	.|231;231	.|E9PPF2;P29597	.|.;TYK2_HUMAN	C|L	10|46;231;231;231	.|ENSP00000433203:R46L;ENSP00000431885:R231L;ENSP00000264818:R231L;ENSP00000432728:R231L	.|ENSP00000264818:R231L	G|R	-|-	1|2	0|0	TYK2|TYK2	10337512|10337512	0.000000|0.000000	0.05858|0.05858	0.161000|0.161000	0.22692|0.22692	0.084000|0.084000	0.17831|0.17831	0.223000|0.223000	0.17719|0.17719	0.563000|0.563000	0.29222|0.29222	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			6	25	1	0	0.00116845	1	0.00124147	6	25				
DGCR14	8220	broad.mit.edu	37	22	19125807	19125807	+	Silent	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19125807G>A	ENST00000252137.6	-	7	889	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	282					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTTGCCATCGGGGCCCACCT	0.637																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(844-846)ccC>ccT		DiGeorge syndrome critical region gene 14							50.0	44.0	46.0					22																	19125807		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19125807G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.846C>T	22.37:g.19125807G>A							p.P282P	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			7	889	-	Colorectal(54;0.0993)		282					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.846C>T	CCDS13756.1																																																																																				0.637	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			4	24	0	0	0	1	0	4	24				
RPA2	6118	broad.mit.edu	37	1	28233710	28233710	+	Silent	SNP	C	C	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:28233710C>G	ENST00000373912.3	-	3	500	c.201G>C	c.(199-201)ggG>ggC	p.G67G	RPA2_ENST00000313433.7_Silent_p.G155G|RPA2_ENST00000373909.3_Silent_p.G75G	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	67					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAACATTCCCAATTCTGA	0.348								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(199-201)ggG>ggC	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							103.0	112.0	109.0					1																	28233710		2203	4300	6503	SO:0001819	synonymous_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28233710C>G	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.201G>C	1.37:g.28233710C>G						RPA2_ENST00000313433.7_Silent_p.G155G|RPA2_ENST00000373909.3_Silent_p.G75G	p.G67G	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	3	500	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	67					Q52II0|Q5TEI9|Q5TEJ5	Silent	SNP	ENST00000373912.3	37	c.201G>C	CCDS314.1																																																																																				0.348	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		11	187	0	0	0	1	0	11	187				
SEPT5	5413	broad.mit.edu	37	22	19708122	19708122	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19708122A>G	ENST00000455784.2	+	7	673	c.548A>G	c.(547-549)aAc>aGc	p.N183S	SEPT5_ENST00000438754.2_Missense_Mutation_p.N192S|SEPT5_ENST00000406395.1_Missense_Mutation_p.N183S|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000383045.3_Missense_Mutation_p.N192S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	183	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAAGGTCAACATCGTGCCT	0.612																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(574-576)aAc>aGc		septin 5							70.0	56.0	61.0					22																	19708122		2203	4300	6503	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19708122A>G	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.548A>G	22.37:g.19708122A>G	ENSP00000391311:p.Asn183Ser					SEPT5_ENST00000406395.1_Missense_Mutation_p.N183S|SEPT5_ENST00000383045.3_Missense_Mutation_p.N192S|SEPT5_ENST00000455784.2_Missense_Mutation_p.N183S	p.N192S	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			6	855	+	Colorectal(54;0.0993)		183					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.575A>G	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292743	0.59976	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81097	-0.1087	10	0.87932	D	0	.	7.6849	0.28534	0.8821:0.0:0.1179:0.0	.	183	Q99719	SEPT5_HUMAN	S	183;183;136;221;192;192;136	ENSP00000391311:N183S;ENSP00000384535:N183S;ENSP00000408678:N136S;ENSP00000414488:N221S;ENSP00000372515:N192S;ENSP00000394541:N192S;ENSP00000378541:N136S	ENSP00000372515:N192S	N	+	2	0	SEPT5	18088122	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	5.956000	0.70315	1.665000	0.50811	0.260000	0.18958	AAC		0.612	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		16	48	0	0	0	1	0	16	48				
MZT2A	653784	broad.mit.edu	37	2	132249917	132249917	+	Frame_Shift_Del	DEL	C	C	-	rs72262008		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:132249917delC	ENST00000309451.6	-	1	78	c.33delG	c.(31-33)gggfs	p.G11fs	MIR4784_ENST00000579560.1_RNA|MZT2A_ENST00000410036.2_Intron|AC093838.4_ENST00000438378.2_RNA	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	11						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						gcgccgccgaccccggcccAG	0.776																																						ENST00000309451.6																			0				breast(1)|lung(1)	2						c.(31-33)ggfs		mitotic spindle organizing protein 2A				406,1854		131,144,855	2.0	3.0	3.0			-0.6	0.0	2	dbSNP_130	3	459,4889		121,217,2336	no	frameshift	MZT2A	NM_001085365.1		252,361,3191	A1A1,A1R,RR		8.5826,17.9646,11.3696			132249917	865,6743	1162	2859	4021	SO:0001589	frameshift_variant	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132249917delC	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"""	613449	"""family with sequence similarity 128, member A"""	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.33delG	2.37:g.132249917delC	ENSP00000311500:p.Gly11fs					MZT2A_ENST00000410036.2_Intron	p.G11fs	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN			1	78	-			11					Q3SWV8|Q8WVB2	Frame_Shift_Del	DEL	ENST00000309451.6	37	c.33delG	CCDS42758.1																																																																																				0.776	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			2	4						2	4	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			0							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			3	6						3	6	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67699720	67699721	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67699720_67699721delTT	ENST00000545606.1	+	10	2709_2710	c.2272_2273delTT	c.(2272-2274)tttfs	p.F759fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	759					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATGCTAGACTTTTTCCAAGCT	0.441																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2272-2274)tfs		cullin-associated and neddylation-dissociated 1																																				SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699720_67699721delTT		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2272_2273delTT	12.37:g.67699722_67699723delTT	ENSP00000442318:p.Phe759fs						p.F759fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2709_2710	+			759					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.2272_2273delTT	CCDS8977.1																																																																																				0.441	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		53	96						53	96	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700155	67700155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67700155delC	ENST00000545606.1	+	10	3144	c.2707delC	c.(2707-2709)cccfs	p.P903fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	903					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AACTAGTCAACCCAAAAGGCA	0.413																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2707-2709)ccfs		cullin-associated and neddylation-dissociated 1							85.0	80.0	82.0					12																	67700155		2203	4300	6503	SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700155delC		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2707delC	12.37:g.67700155delC	ENSP00000442318:p.Pro903fs						p.P903fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3144	+			903					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.2707delC	CCDS8977.1																																																																																				0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	57						7	57	---	---	---	---
CYBA	1535	broad.mit.edu	37	16	88709931	88709932	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:88709931_88709932delCC	ENST00000261623.3	-	6	555_556	c.417_418delGG	c.(415-420)cgggagfs	p.E140fs		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	140	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	TGCGGCCGCTCCCGGGGCTTGG	0.762																																						ENST00000261623.3																			0				endometrium(1)|liver(1)	2						c.(415-420)cgagfs		cytochrome b-245, alpha polypeptide																																				SO:0001589	frameshift_variant	1535				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding	g.chr16:88709931_88709932delCC		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"""Cytochrome b genes"""	2577	protein-coding gene	gene with protein product	"""flavocytochrome b-558 alpha polypeptide"""	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.417_418delGG	16.37:g.88709931_88709932delCC	ENSP00000261623:p.Glu140fs						p.RE139fs	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	6	555_556	-			139			Pro-rich.		Q14090|Q9BR72	Frame_Shift_Del	DEL	ENST00000261623.3	37	c.417_418delGG	CCDS32504.1																																																																																				0.762	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		2	4						2	4	---	---	---	---
