#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
DNAH11	8701	broad.mit.edu	37	7	21611562	21611562	+	Missense_Mutation	SNP	A	A	G	rs186667584|rs34832072		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr7:21611562A>G	ENST00000409508.3	+	8	1595	c.1564A>G	c.(1564-1566)Act>Gct	p.T522A	DNAH11_ENST00000328843.6_Missense_Mutation_p.T522A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	522	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAACAGAGCACTTATGACCC	0.368									Kartagener syndrome				A|||	1	0.000199681	0.0008	0.0	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.0					ENST00000328843.6											0			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1564-1566)Act>Gct	dynein, axonemal, heavy chain 11	A	ALA/THR	2,3686		0,2,1842	74.0	73.0	73.0		1564	5.4	1.0	7		73	0,8158		0,0,4079	no	missense	DNAH11	NM_003777.3	58	0,2,5921	GG,GA,AA		0.0,0.0542,0.0169	benign	522/4524	21611562	2,11844	1844	4079	5923	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21611562A>G	U83569	U83569	CCDS64602.1	CCDS64602.1	7p21	2008-07-18	2006-09-04		2008-07-18	2006-09-04							"""Axonemal dyneins"""	"""Axonemal dyneins"""	2942	2942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	603339	"""dynein, axonemal, heavy polypeptide 11"""		"""dynein, axonemal, heavy polypeptide 11"""			9256245	9256245	Standard	Standard	NM_001277115	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	uc031swp.1	Q96DT5	Q96DT5			ENST00000409508.3:c.1564A>G	7.37:g.21611562A>G	ENSP00000475939:p.Thr522Ala		DNAH11_ENST00000409508.3_Missense_Mutation_p.T522A	p.T522A			Q96DT5	DYH11_HUMAN			8	1595	+			522	Stem (By similarity).	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1564A>G		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	8.997	0.979171	0.18812	5.42E-4	0.0	ENSG00000105877	ENST00000328843	T	0.56444	0.46	5.36	5.36	0.76844	5.36	5.36	0.76844	Dynein heavy chain, domain-1 (1);	0.517458	0.19639	N	0.109488	T	0.50888	0.1642	M	0.66297	2.02	0.32812	D	0.501522	B	0.16802	0.019	B	0.22152	0.038	T	0.56962	-0.7892	10	0.14252	T	0.57	.	14.3138	0.66434	1.0:0.0:0.0:0.0	.	522	Q96DT5	DYH11_HUMAN	A	522	ENSP00000330671:T522A	ENSP00000330671:T522A	T	+	1	0	0	DNAH11	21578087	21578087	0.085000	0.21516	0.986000	0.45419	0.674000	0.39518	1.208000	0.32345	2.026000	0.59711	0.533000	0.62120	ACT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		33.953627	6	6	35	35	NM_003777		10	34.173038	34.173038	6	0.625000	0	0	0	1	0	10	6	0.625
GNB1	2782	broad.mit.edu	37	1	1735887	1735887	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr1:1735887C>T	ENST00000378609.4	-	7	732	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	134					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ACGACTCACGCGCACGTTCCC	0.493																																						ENST00000378609.4											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(400-402)cGc>cAc	guanine nucleotide binding protein (G protein), beta polypeptide 1						79.0	69.0	72.0					1																	1735887		2203	4300	6503	SO:0001583	missense	2782			cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1735887C>T	BC004186	BC004186	CCDS34.1, CCDS72685.1	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			2013-01-10			ENSG00000078369	ENSG00000078369	ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	"""WD repeat domain containing"""	4396	4396	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139380	139380								Standard	Standard	NM_002074	NM_002074		Approved		uc001aif.3	uc001aif.3	P62873	P62873	OTTHUMG00000000940	OTTHUMG00000000940	ENST00000378609.4:c.401G>A	1.37:g.1735887C>T	ENSP00000367872:p.Arg134His			p.R134H	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	7	732	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	134		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.401G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078615	0.76528	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606;ENST00000434686;ENST00000439272	T;T;T	0.01388	4.95;4.95;4.95	5.52	4.61	0.57282	5.52	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053601	0.64402	D	0.000001	T	0.02727	0.0082	L	0.48218	1.51	0.80722	D	1	P	0.46952	0.887	P	0.45660	0.489	T	0.57476	-0.7805	10	0.66056	D	0.02	-16.9547	13.3066	0.60355	0.0:0.9242:0.0:0.0758	.	134	P62873	GBB1_HUMAN	H	134;34;134;134;121	ENSP00000367872:R134H;ENSP00000392765:R134H;ENSP00000399741:R121H	ENSP00000367869:R134H	R	-	2	0	0	GNB1	1725747	1725747	1.000000	0.71417	0.462000	0.27118	0.642000	0.38348	7.556000	0.82233	1.335000	0.45486	0.655000	0.94253	CGC		0.493	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		47.993721	12	12	56	56	NM_002074		16	48.200317	48.200317	22	0.421053	0	0	0	1	0	16	22	0.421053
PTPRD	5789	broad.mit.edu	37	9	8389348	8389348	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:8389348C>T	ENST00000381196.4	-	34	4813	c.4270G>A	c.(4270-4272)Gcc>Acc	p.A1424T	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1424T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1424T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1014T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1014T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1411T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1402T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1018T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1017T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1017T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1424	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAATATAGGCATTTTGCTTC	0.443										TSP Lung(15;0.13)																												ENST00000381196.4											0			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4270-4272)Gcc>Acc	protein tyrosine phosphatase, receptor type, D						190.0	178.0	182.0					9																	8389348		2203	4300	6503	SO:0001583	missense	5789			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389348C>T	X54133	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			2013-02-11			ENSG00000153707	ENSG00000153707	ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	9668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601598	601598						7896816, 8355697	7896816, 8355697	Standard	Standard	NM_002839	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	uc003zkk.3	P23468	P23468	OTTHUMG00000021005	OTTHUMG00000021005	ENST00000381196.4:c.4270G>A	9.37:g.8389348C>T	ENSP00000370593:p.Ala1424Thr		PTPRD_ENST00000537002.1_Missense_Mutation_p.A1014T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1017T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1411T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1018T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1402T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1424T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1014T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1424T	p.A1424T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4813	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1424	Tyrosine-protein phosphatase 1.	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4270G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535045	0.96460	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.65	5.65	0.86999	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.975;0.987;0.987;0.987;0.993;0.977;0.993;0.999;0.998	T	0.56366	-0.7991	9	.	.	.	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	1017;1008;1017;1018;1014;1014;1411;1424;1424	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1424;1424;1411;1402;1018;1017;1014;1014;895;1424;1017;1017	ENSP00000370593:A1424T;ENSP00000348812:A1424T;ENSP00000353187:A1411T;ENSP00000351293:A1402T;ENSP00000347373:A1018T;ENSP00000380741:A1017T;ENSP00000380735:A1014T;ENSP00000440515:A1014T;ENSP00000438164:A1424T;ENSP00000417093:A1017T;ENSP00000380731:A1017T	.	A	-	1	0	0	PTPRD	8379348	8379348	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.661000	0.90470	0.555000	0.69702	GCC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		2.593658	14	14	126	126			9	19.82106	19.821060	92	0.089109	0	0	0	1	0	9	92	0.089109
PSIP1	11168	broad.mit.edu	37	9	15506612	15506612	+	Silent	SNP	A	A	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:15506612A>T	ENST00000380733.4	-	3	439	c.96T>A	c.(94-96)gcT>gcA	p.A32A	PSIP1_ENST00000380716.4_Silent_p.A32A|PSIP1_ENST00000380715.1_Silent_p.A32A|PSIP1_ENST00000397519.2_Silent_p.A32A|PSIP1_ENST00000380738.4_Silent_p.A32A|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	32	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTGGCTTTACAGCTCCATCAG	0.348																																						ENST00000380733.4											0			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(94-96)gcT>gcA	PC4 and SFRS1 interacting protein 1						106.0	113.0	110.0					9																	15506612		2203	4300	6503	SO:0001819	synonymous_variant	11168			initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15506612A>T	AF098482	AF098482	CCDS6479.1, CCDS6480.1	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985	ENSG00000164985	ENSG00000164985				9527	9527	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603620	603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	9822615, 9885563	Standard	Standard	NM_033222	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	uc003zlw.4	O75475	O75475	OTTHUMG00000021021	OTTHUMG00000021021	ENST00000380733.4:c.96T>A	9.37:g.15506612A>T			PSIP1_ENST00000397519.2_Silent_p.A32A|PSIP1_ENST00000380716.4_Silent_p.A32A|PSIP1_ENST00000380738.4_Silent_p.A32A|PSIP1_ENST00000380715.1_Silent_p.A32A|PSIP1_ENST00000484265.1_5'UTR	p.A32A			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	3	439	-			32	PWWP.	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	c.96T>A	CCDS6479.1																																																																																									0.348	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		-7.331429	13	13	85	85	NM_033222		3	6.674917	6.674917	61	0.046875	0	0	0	1	0	3	61	0.046875
NHS	4810	broad.mit.edu	37	X	17744069	17744069	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:17744069G>A	ENST00000380060.3	+	6	2118	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	NHS_ENST00000398097.3_Missense_Mutation_p.V438I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	615					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGGCTGGCGTCCTCCTTAG	0.592																																						ENST00000380060.3											0			breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1780-1782)Gtc>Atc	Nance-Horan syndrome (congenital cataracts and dental anomalies)						76.0	62.0	67.0					X																	17744069		2203	4300	6503	SO:0001583	missense	4810				nucleus		g.chrX:17744069G>A			CCDS14181.1, CCDS48087.1	CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			2014-06-18			ENSG00000188158	ENSG00000188158	ENSG00000188158	ENSG00000188158				7820	7820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300457	300457								Standard	Standard	NM_001136024	NM_001136024		Approved		uc004cxx.3	uc004cxx.3	Q6T4R5	Q6T4R5	OTTHUMG00000022799	OTTHUMG00000022799	ENST00000380060.3:c.1780G>A	X.37:g.17744069G>A	ENSP00000369400:p.Val594Ile		NHS_ENST00000398097.3_Missense_Mutation_p.V438I	p.V594I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2118	+	Hepatocellular(33;0.183)		594		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1780G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900314	0.52227	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48201	0.82;0.84	5.86	5.0	0.66597	5.86	5.0	0.66597	.	0.170372	0.51477	D	0.000094	T	0.60689	0.2288	M	0.66939	2.045	0.51482	D	0.999925	P;B;B;D	0.71674	0.48;0.178;0.178;0.998	B;B;B;P	0.58130	0.071;0.042;0.042;0.833	T	0.59867	-0.7373	10	0.33940	T	0.23	-12.6421	14.0633	0.64812	0.0738:0.0:0.9262:0.0	.	615;436;438;594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	594;438;436	ENSP00000369400:V594I;ENSP00000381170:V438I	ENSP00000369397:V436I	V	+	1	0	0	NHS	17653990	17653990	1.000000	0.71417	0.841000	0.33234	0.764000	0.43329	9.476000	0.97823	1.235000	0.43724	0.600000	0.82982	GTC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		136.520751	10	10	108	108	NM_198270		43	136.60554	136.605540	49	0.467391	0	0	0	1	0	43	49	0.467391
PSD3	23362	broad.mit.edu	37	8	18729316	18729316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:18729316G>T	ENST00000327040.8	-	3	1160	c.1058C>A	c.(1057-1059)tCa>tAa	p.S353*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.S288*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.S353*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	353					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAAACTACTTGAATTACACAA	0.468																																						ENST00000440756.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1057-1059)tCa>tAa	pleckstrin and Sec7 domain containing 3						140.0	140.0	140.0					8																	18729316		2002	4179	6181	SO:0001587	stop_gained	23362			regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729316G>T	AF243495	AF243495	CCDS34854.1, CCDS43720.1	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			2013-01-10			ENSG00000156011	ENSG00000156011	ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	19093	19093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614440	614440								Standard	Standard	NM_206909	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	uc003wza.3	Q9NYI0	Q9NYI0	OTTHUMG00000163711	OTTHUMG00000163711	ENST00000327040.8:c.1058C>A	8.37:g.18729316G>T	ENSP00000324127:p.Ser353*		PSD3_ENST00000523619.1_Nonsense_Mutation_p.S288*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.S353*	p.S353*			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1160	-			353		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	c.1058C>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445975	0.84101	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	.	.	.	5.49	4.61	0.57282	5.49	4.61	0.57282	.	0.908148	0.09099	N	0.848816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0009	0.41929	0.0929:0.0:0.9071:0.0	.	.	.	.	X	353;353;288	.	ENSP00000324127:S353X	S	-	2	0	0	PSD3	18773596	18773596	0.374000	0.25081	0.007000	0.13788	0.026000	0.11368	2.036000	0.41165	1.322000	0.45245	0.563000	0.77884	TCA		0.468	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		-6.226506	15	15	93	93	NM_015310		3	6.384103	6.384103	56	0.050847	1	0	0.115264	1	0.115264	3	56	0.050847
SCRIB	23513	broad.mit.edu	37	8	144887324	144887324	+	Silent	SNP	A	A	G			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:144887324A>G	ENST00000320476.3	-	19	2634	c.2628T>C	c.(2626-2628)atT>atC	p.I876I	SCRIB_ENST00000377533.3_Silent_p.I795I|SCRIB_ENST00000356994.2_Silent_p.I876I	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	876	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			TCCCACCAGCAATGCTGAAGC	0.721																																					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.(2626-2628)atT>atC	scribbled planar cell polarity protein						9.0	11.0	11.0					8																	144887324		2072	4184	6256	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.chr8:144887324A>G	AY062238	AY062238	CCDS6411.1, CCDS6412.1	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	ENSG00000180900	ENSG00000180900				30377	30377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607733	607733	"""scribbled homolog (Drosophila)"""		"""scribbled homolog (Drosophila)"""			11027293, 14681682	11027293, 14681682	Standard	Standard	NM_182706	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	uc003yzo.1	Q14160	Q14160	OTTHUMG00000165154	OTTHUMG00000165154	ENST00000320476.3:c.2628T>C	8.37:g.144887324A>G			SCRIB_ENST00000320476.3_Silent_p.I876I|SCRIB_ENST00000377533.3_Silent_p.I795I	p.I876I	NM_182706.4	NP_874365	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)		19	2634	-	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)		876	Interaction with ARHGEF7.|PDZ 2.	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.2628T>C	CCDS6411.1																																																																																									0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		6.516331	-10	-10	20	20	NM_015356		3	7.772127	7.772127	12	0.200000	0	0	0	1	0	3	12	0.2
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						164.0	152.0	156.0					X																	20156713		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156713C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		EIF1AX_ENST00000379593.1_Intron	p.G15D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	247	-			15		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	0	EIF1AX	20066634	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		39.163719	23	23	211	211			16	43.707518	43.707518	53	0.231884	0	0	0	1	0	16	53	0.231884
XRCC3	7517	broad.mit.edu	37	14	104169547	104169547	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr14:104169547A>G	ENST00000553264.1	-	5	1320	c.524T>C	c.(523-525)tTt>tCt	p.F175S	XRCC3_ENST00000445556.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555055.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000554913.1_Missense_Mutation_p.F175S|XRCC3_ENST00000352127.7_Missense_Mutation_p.F175S|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	175					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGCTGCCAAATCGGAGCTT	0.617								Direct reversal of damage;Homologous recombination																														ENST00000553264.1											0			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(523-525)tTt>tCt	X-ray repair complementing defective repair in Chinese hamster cells 3						56.0	44.0	48.0					14																	104169547		2197	4293	6490	SO:0001583	missense	7517			DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169547A>G	AF035586	AF035586	CCDS9984.1	CCDS9984.1	14q32.3	2006-05-04			2006-05-04				ENSG00000126215		ENSG00000126215				12830	12830	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RAD51-like"""	"""RAD51-like"""	600675	600675						7603995	7603995	Standard	Standard	NM_001100118	NM_001100118		Approved		uc001ynz.4	uc001ynz.4	O43542	O43542			ENST00000553264.1:c.524T>C	14.37:g.104169547A>G	ENSP00000451974:p.Phe175Ser		XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000554913.1_Missense_Mutation_p.F175S|XRCC3_ENST00000352127.7_Missense_Mutation_p.F175S|XRCC3_ENST00000445556.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555055.1_Missense_Mutation_p.F175S|XRCC3_ENST00000554974.1_Intron	p.F175S			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1320	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	175		O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.524T>C	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029618	0.54790	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.7	3.55	0.40652	4.7	3.55	0.40652	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	L	0.53617	1.68	0.58432	D	0.999999	P	0.46912	0.886	P	0.56474	0.799	T	0.46965	-0.9153	10	0.52906	T	0.07	-13.2926	10.0182	0.42027	0.9181:0.0:0.0819:0.0	.	175	O43542	XRCC3_HUMAN	S	175	ENSP00000451362:F175S;ENSP00000343392:F175S;ENSP00000451974:F175S;ENSP00000452598:F175S;ENSP00000412990:F175S	ENSP00000343392:F175S	F	-	2	0	0	XRCC3	103239300	103239300	1.000000	0.71417	0.003000	0.11579	0.006000	0.05464	6.989000	0.76219	0.637000	0.30526	-0.411000	0.06167	TTT		0.617	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		22.825393	-9	-9	13	13	NM_005432		7	22.825393	22.825393	7	0.500000	0	0	0	1	0	7	7	0.5
OR51L1	119682	broad.mit.edu	37	11	5020297	5020297	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr11:5020297C>A	ENST00000321543.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATTCTTGGCTCTCCATCCT	0.433																																						ENST00000321543.1											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(85-87)Ctc>Atc	olfactory receptor, family 51, subfamily L, member 1						238.0	219.0	225.0					11																	5020297		2201	4298	6499	SO:0001583	missense	119682			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020297C>A	AB065799	AB065799	CCDS31369.1	CCDS31369.1	11p15.4	2012-08-09			2012-08-09			ENSG00000176798	ENSG00000176798	ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	14759	14759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004755	NM_001004755		Approved		uc010qyu.2	uc010qyu.2	Q8NGJ5	Q8NGJ5	OTTHUMG00000066605	OTTHUMG00000066605	ENST00000321543.1:c.85C>A	11.37:g.5020297C>A	ENSP00000322156:p.Leu29Ile			p.L29I	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	85	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	29		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.85C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.982072	0.00448	.	.	ENSG00000176798	ENST00000321543	T	0.16457	2.34	5.58	3.71	0.42584	5.58	3.71	0.42584	.	0.185056	0.26331	N	0.024985	T	0.05410	0.0143	N	0.03281	-0.365	0.22858	N	0.998647	B	0.18013	0.025	B	0.21360	0.034	T	0.42241	-0.9463	10	0.02654	T	1	.	5.5935	0.17313	0.145:0.64:0.14:0.075	.	29	Q8NGJ5	O51L1_HUMAN	I	29	ENSP00000322156:L29I	ENSP00000322156:L29I	L	+	1	0	0	OR51L1	4976873	4976873	0.711000	0.27906	0.998000	0.56505	0.035000	0.12851	-0.201000	0.09464	0.903000	0.36546	-0.175000	0.13238	CTC		0.433	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1		-3.212275	4	4	112	112	NM_001004755		7	15.031318	15.031318	90	0.072165	1	0	0.00198382	1	0.00207007	7	90	0.072165
CEP131	22994	broad.mit.edu	37	17	79166611	79166611	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr17:79166611G>A	ENST00000269392.4	-	19	2610	c.2363C>T	c.(2362-2364)gCg>gTg	p.A788V	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.A785V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		788					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ctgctgcagcgcccactgctc	0.736																																						ENST00000269392.4											0			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2362-2364)gCg>gTg	5-azacytidine induced 1						14.0	17.0	16.0					17																	79166611		2093	4201	6294	SO:0001583	missense	22994			cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166611G>A																																																	ENST00000269392.4:c.2363C>T	17.37:g.79166611G>A	ENSP00000269392:p.Ala788Val		AZI1_ENST00000374782.3_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.A785V|AZI1_ENST00000575907.1_Intron	p.A788V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		19	2610	-	all_neural(118;0.0804)|Melanoma(429;0.242)		788		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2363C>T		.	.	.	.	.	.	.	.	.	.	G	7.075	0.569045	0.13560	.	.	ENSG00000141577	ENST00000450824;ENST00000269392	T;T	0.15952	2.38;2.39	3.32	1.19	0.21007	3.32	1.19	0.21007	.	0.153292	0.43260	N	0.000586	T	0.13114	0.0318	L	0.48362	1.52	0.80722	D	1	B;B	0.29378	0.243;0.045	B;B	0.23419	0.046;0.012	T	0.08207	-1.0733	10	0.42905	T	0.14	-8.9622	8.3592	0.32348	0.2079:0.0:0.7921:0.0	.	788;785	Q9UPN4;Q9UPN4-2	AZI1_HUMAN;.	V	785;788	ENSP00000393583:A785V;ENSP00000269392:A788V	ENSP00000269392:A788V	A	-	2	0	0	AZI1	76781206	76781206	0.961000	0.32948	0.543000	0.28128	0.547000	0.35210	2.848000	0.48278	0.110000	0.17919	-0.444000	0.05651	GCG		0.736	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		28.035555	11	11	44	44			10	28.076363	28.076363	12	0.454545	0	0	0	1	0	10	12	0.454545
BRD1	23774	broad.mit.edu	37	22	50216676	50216676	+	Silent	SNP	T	T	C			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr22:50216676T>C	ENST00000216267.8	-	1	1776	c.1290A>G	c.(1288-1290)gcA>gcG	p.A430A	BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000542442.1_Silent_p.A69A|BRD1_ENST00000457780.2_Silent_p.A430A|BRD1_ENST00000404034.1_Silent_p.A430A|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404760.1_Silent_p.A430A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	430					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAGCCTTTTTTGCCTTCTTCC	0.517																																						ENST00000216267.8											0			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1288-1290)gcA>gcG	bromodomain containing 1						152.0	155.0	154.0					22																	50216676		2203	4300	6503	SO:0001819	synonymous_variant	23774			histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216676T>C	AF005067	AF005067	CCDS14080.1	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425	ENSG00000100425	ENSG00000100425				1102	1102	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BR140-like"""	"""BR140-like"""	604589	604589	"""bromodomain-containing 1"""		"""bromodomain-containing 1"""			10591208, 10602503	10591208, 10602503	Standard	Standard	NM_014577	NM_014577		Approved	BRL, BRPF2	uc003biv.3	uc003biv.3	O95696	O95696	OTTHUMG00000150288	OTTHUMG00000150288	ENST00000216267.8:c.1290A>G	22.37:g.50216676T>C			BRD1_ENST00000542442.1_Silent_p.A69A|BRD1_ENST00000457780.2_Silent_p.A430A|BRD1_ENST00000404760.1_Silent_p.A430A|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.A430A	p.A430A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1776	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	430		A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1290A>G	CCDS14080.1																																																																																									0.517	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		223.639596	-10	-10	193	193	NM_014577		67	224.051575	224.051575	52	0.563025	0	0	0	1	0	67	52	0.563025
COL2A1	1280	broad.mit.edu	37	12	48372483	48372483	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr12:48372483G>T	ENST00000380518.3	-	42	2956	c.2792C>A	c.(2791-2793)gCt>gAt	p.A931D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A862D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	931	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCTCCTCGAGCACCTTTGGG	0.637																																						ENST00000380518.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2791-2793)gCt>gAt	collagen, type II, alpha 1						29.0	31.0	30.0					12																	48372483		2203	4299	6502	SO:0001583	missense	1280			axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372483G>T	X16468	X16468	CCDS8759.1, CCDS41778.1	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219	ENSG00000139219	ENSG00000139219		"""Collagens"""	"""Collagens"""	2200	2200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120140	120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	1677770	Standard	Standard	NM_033150	NM_033150		Approved	STL1	uc001rqu.3	uc001rqu.3	P02458	P02458	OTTHUMG00000149896	OTTHUMG00000149896	ENST00000380518.3:c.2792C>A	12.37:g.48372483G>T	ENSP00000369889:p.Ala931Asp		COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A862D	p.A931D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			42	2956	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	931	Triple-helical region.	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2792C>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422086	0.43020	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94376	-3.41;-3.41	5.46	-0.683	0.11335	5.46	-0.683	0.11335	.	0.411674	0.22850	N	0.054869	D	0.82426	0.5034	N	0.05199	-0.095	0.30228	N	0.796188	B;B	0.25609	0.13;0.037	B;B	0.25884	0.064;0.029	T	0.71889	-0.4456	10	0.33141	T	0.24	.	11.1015	0.48177	0.4511:0.0:0.5489:0.0	.	862;931	P02458-1;P02458	.;CO2A1_HUMAN	D	931;862;862	ENSP00000369889:A931D;ENSP00000338213:A862D	ENSP00000338213:A862D	A	-	2	0	0	COL2A1	46658750	46658750	0.000000	0.05858	0.953000	0.39169	0.991000	0.79684	0.002000	0.13061	-0.448000	0.07128	0.655000	0.94253	GCT		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		54.949551	-10	-10	41	41	NM_001844		18	54.955726	54.955726	17	0.514286	1	0	1.99824e-07	1	2.17989e-07	18	17	0.514286
GLTSCR1L	23506	broad.mit.edu	37	6	42821420	42821420	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr6:42821420G>A	ENST00000314073.5	+	8	2166	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	CTTAGGAACCGCACAACCACA	0.428																																						ENST00000314073.5											0										c.(1990-1992)Gca>Aca	GLTSCR1-like						151.0	130.0	137.0					6																	42821420		2203	4300	6503	SO:0001583	missense	23506						g.chr6:42821420G>A	AL833540	AL833540	CCDS34451.1	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624	ENSG00000112624	ENSG00000112624				21111	21111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA0240"""	KIAA0240	"""KIAA0240"""	KIAA0240				Standard	Standard	XM_005248972	XM_005248972		Approved		uc003osp.1	uc003osp.1	Q6AI39	Q6AI39	OTTHUMG00000014706	OTTHUMG00000014706	ENST00000314073.5:c.1990G>A	6.37:g.42821420G>A	ENSP00000313933:p.Ala664Thr		GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T	p.A664T							8	2166	+					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1990G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566769	0.13560	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	4.88	-8.72	0.00845	4.88	-8.72	0.00845	.	1.206860	0.05800	N	0.611940	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12103	T	0.63	5.0E-4	9.9784	0.41797	0.4926:0.0938:0.4136:0.0	.	664	Q6AI39	K0240_HUMAN	T	664	ENSP00000313933:A664T;ENSP00000377723:A664T	ENSP00000313933:A664T	A	+	1	0	0	KIAA0240	42929398	42929398	0.000000	0.05858	0.004000	0.12327	0.496000	0.33645	-1.124000	0.03260	-1.616000	0.01572	-0.369000	0.07265	GCA		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3		-8.228927	-1	-1	70	70	NM_015349		3	6.334829	6.334829	63	0.045455	0	0	0	1	0	3	63	0.045455
ZC3H7A	29066	broad.mit.edu	37	16	11846640	11846640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr16:11846640G>A	ENST00000396516.2	-	21	2808	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q871*|ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q67*			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	871						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCCTGCCACTGCTTCTCACTG	0.517																																						ENST00000396516.2											0			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2611-2613)Cag>Tag	zinc finger CCCH-type containing 7A						137.0	108.0	118.0					16																	11846640		2197	4300	6497	SO:0001587	stop_gained	29066				nucleus	nucleic acid binding|zinc ion binding	g.chr16:11846640G>A	AF161540	AF161540	CCDS10550.1	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	30959	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7	"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	11042152	Standard	Standard	NM_014153	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	uc002dbl.3	Q8IWR0	Q8IWR0	OTTHUMG00000129825	OTTHUMG00000129825	ENST00000396516.2:c.2611C>T	16.37:g.11846640G>A	ENSP00000379773:p.Gln871*		ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q67*|ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q871*	p.Q871*			Q8IWR0	Z3H7A_HUMAN			21	2808	-			871		D3DUG5|Q9NPE9	Nonsense_Mutation	SNP	ENST00000396516.2	37	c.2611C>T	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	49	16.042092	0.99852	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8439	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	871	.	ENSP00000347999:Q871X	Q	-	1	0	0	ZC3H7A	11754141	11754141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.688000	0.91661	0.591000	0.81541	CAG		0.517	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1		75.534157	-20	-20	99	99	NM_014153		26	76.184555	76.184555	40	0.393939	0	0	0	1	0	26	40	0.393939
HIATL2	84278	hgsc.bcm.edu	37	9	99711843	99711843	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:99711843C>A	ENST00000375223.4	-	4	602	c.389G>T	c.(388-390)aGc>aTc	p.S130I	HIATL2_ENST00000602917.1_Missense_Mutation_p.S130I|HIATL2_ENST00000506067.1_5'UTR			Q5VZR4	HIAL2_HUMAN	hippocampus abundant transcript-like 2	130					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)										TCACCATGGGCTGATCCTCAT	0.488																																																	0																																														SO:0001583	missense	84278							BC005058	BC005058			9q22.33	2008-09-12	2008-09-12		2008-09-12	2008-09-12		ENSG00000196312	ENSG00000196312	ENSG00000196312	ENSG00000196312				23672	23672	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NR_002894	NR_002894		Approved	MGC12945	uc004aws.3	uc004aws.3	Q5VZR4	Q5VZR4	OTTHUMG00000020317	OTTHUMG00000020317	ENST00000375223.4:c.389G>T	9.37:g.99711843C>A	ENSP00000364371:p.Ser130Ile																	Q9BSG7	RNA	SNP	ENST00000375223.4	37			.	.	.	.	.	.	.	.	.	.	.	12.57	1.976373	0.34848	.	.	ENSG00000196312	ENST00000375223	D	0.81996	-1.56	1.44	0.487	0.16842	1.44	0.487	0.16842	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.51477	D	0.000091	D	0.87736	0.6252	.	.	.	0.46564	D	0.999102	D	0.65815	0.995	D	0.72625	0.978	D	0.84714	0.0736	9	0.87932	D	0	.	5.7346	0.18059	0.0:0.7998:0.0:0.2002	.	130	Q5VZR4	HIAL2_HUMAN	I	130	ENSP00000364371:S130I	ENSP00000364371:S130I	S	-	2	0	0	HIATL2	98751664	98751664	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	3.489000	0.53237	0.170000	0.19704	0.184000	0.17185	AGC		0.488	HIATL2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-45	-45	118	118	NM_032318		122			216							122	216	
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		62.501612	0	0	81	81	NM_002067		20	62.598132	62.598132	16	0.555556	0	0	0	1	0	20	16	0.555556
ZNF628	89887	broad.mit.edu	37	19	55993184	55993184	+	Silent	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:55993184C>T	ENST00000598519.1	+	3	1177	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ZNF628_ENST00000391718.2_Silent_p.L204L			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	208					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCTGCCCGCTCTGCCCCAAGA	0.736																																						ENST00000391718.2											0			endometrium(4)|kidney(1)|lung(2)	7						c.(610-612)ctC>ctT	zinc finger protein 628						14.0	14.0	14.0					19																	55993184		2197	4272	6469	SO:0001819	synonymous_variant	89887				nucleus	DNA binding|zinc ion binding	g.chr19:55993184C>T	AF367249	AF367249	CCDS33116.3	CCDS33116.3	19q13.43	2013-01-08			2013-01-08			ENSG00000197483	ENSG00000197483	ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	28054	28054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671	610671								Standard	Standard	NM_033113	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	uc002qld.3	Q5EBL2	Q5EBL2	OTTHUMG00000150396	OTTHUMG00000150396	ENST00000598519.1:c.624C>T	19.37:g.55993184C>T			ZNF628_ENST00000598519.1_Silent_p.L208L	p.L204L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1177	+	Breast(117;0.155)		204		Q86X34	Silent	SNP	ENST00000598519.1	37	c.612C>T	CCDS33116.3																																																																																									0.736	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2		15.574655	0	0	10	10	XM_058964		5	15.574655	15.574655	5	0.500000	0	0	0	1	0	5	5	0.5
HHEX	3087	broad.mit.edu	37	10	94452507	94452507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr10:94452507C>T	ENST00000282728.5	+	3	2388	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	HHEX_ENST00000472590.2_Nonsense_Mutation_p.Q25*|HHEX_ENST00000492654.2_Nonsense_Mutation_p.Q25*	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	197					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GAGACTAAAACAGGTATGGAC	0.428																																						ENST00000282728.5											0			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(589-591)Cag>Tag	hematopoietically expressed homeobox						123.0	119.0	120.0					10																	94452507		2203	4300	6503	SO:0001587	stop_gained	3087			anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452507C>T	Z21533	Z21533	CCDS7423.1	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804	ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	"""Homeoboxes / ANTP class : NKL subclass"""	4901	4901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604420	604420		PRHX		PRHX		8096636, 8103988	8096636, 8103988	Standard	Standard	NM_002729	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	uc001kid.3	Q03014	Q03014	OTTHUMG00000018762	OTTHUMG00000018762	ENST00000282728.5:c.589C>T	10.37:g.94452507C>T	ENSP00000282728:p.Gln197*		HHEX_ENST00000492654.2_Nonsense_Mutation_p.Q25*|HHEX_ENST00000472590.2_Nonsense_Mutation_p.Q25*	p.Q197*	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			3	2388	+			197		B1AQ17|Q96CE9	Nonsense_Mutation	SNP	ENST00000282728.5	37	c.589C>T	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	C	46	12.659512	0.99686	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	.	.	.	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.5893	17.3563	0.87336	0.0:1.0:0.0:0.0	.	.	.	.	X	197;25;25	.	ENSP00000282728:Q197X	Q	+	1	0	0	HHEX	94442487	94442487	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.499000	0.81566	2.343000	0.79666	0.484000	0.47621	CAG		0.428	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2		55.317612	-3	-3	91	91			19	56.143615	56.143615	33	0.365385	0	0	0	1	0	19	33	0.365385
CRLF1	9244	broad.mit.edu	37	19	18704909	18704909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:18704909delC	ENST00000392386.3	-	8	1414	c.1221delG	c.(1219-1221)gggfs	p.G407fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	407					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGGCAGGATCCCCTCGTCCT	0.687																																						ENST00000392386.3											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1219-1221)gggfs	cytokine receptor-like factor 1						12.0	11.0	11.0					19																	18704909		2178	4277	6455	SO:0001589	frameshift_variant	9244			negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704909delC	AF059293	AF059293	CCDS32962.1	CCDS32962.1	19p12	2013-02-11			2013-02-11				ENSG00000006016		ENSG00000006016		"""Fibronectin type III domain containing"""	"""Fibronectin type III domain containing"""	2364	2364	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	"""cold-induced sweating syndrome"""	604237	604237						9686600	9686600	Standard	Standard	NM_004750	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	uc010ebt.2	O75462	O75462			ENST00000392386.3:c.1221delG	19.37:g.18704909delC	ENSP00000376188:p.Gly407fs		CRLF1_ENST00000594325.1_Intron	p.G407fs	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			8	1414	-			407		Q9UHH5	Frame_Shift_Del	DEL	ENST00000392386.3	37	c.1221delG	CCDS32962.1																																																																																									0.687	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	.	.	6	6	7	7			2			4	0.33						2	4	0.33
