#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
MORC2	22880	broad.mit.edu	37	22	31332573	31332573	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr22:31332573C>T	ENST00000397641.3	-	17	2070	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.M492I			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	554						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTGCGTCTTCATGTCCTTTC	0.522																																						ENST00000397641.3											0			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1660-1662)atG>atA	MORC family CW-type zinc finger 2						182.0	160.0	168.0					22																	31332573		2203	4300	6503	SO:0001583	missense	22880					ATP binding|zinc ion binding	g.chr22:31332573C>T	AB020659	AB020659	CCDS33636.1	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422	ENSG00000133422	ENSG00000133422				23573	23573	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1	"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	14607086	Standard	Standard	XM_005261391	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	uc003aje.1	Q9Y6X9	Q9Y6X9	OTTHUMG00000151193	OTTHUMG00000151193	ENST00000397641.3:c.1662G>A	22.37:g.31332573C>T	ENSP00000380763:p.Met554Ile		MORC2_ENST00000215862.4_Missense_Mutation_p.M492I|MORC2_ENST00000469915.1_5'UTR	p.M554I			Q9Y6X9	MORC2_HUMAN			17	2070	-					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1662G>A		.	.	.	.	.	.	.	.	.	.	C	7.654	0.683441	0.14907	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.10763	2.84;2.84	6.06	-2.67	0.06059	6.06	-2.67	0.06059	.	0.748873	0.13033	N	0.419189	T	0.04137	0.0115	N	0.14661	0.345	0.27746	N	0.944305	B	0.02656	0.0	B	0.01281	0.0	T	0.42050	-0.9474	10	0.17832	T	0.49	.	2.7326	0.05231	0.098:0.2662:0.1835:0.4523	.	554	Q9Y6X9	MORC2_HUMAN	I	554;492	ENSP00000380763:M554I;ENSP00000215862:M492I	ENSP00000215862:M492I	M	-	3	0	0	MORC2	29662573	29662573	0.000000	0.05858	0.775000	0.31657	0.852000	0.48524	-0.770000	0.04705	-0.014000	0.14175	-0.140000	0.14226	ATG		0.522	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2		179.840751	19	19	128	128	NM_014941		58	179.857344	179.857344	61	0.487395	0	0	0	1	0	58	61	0.487395
ZSWIM1	90204	broad.mit.edu	37	20	44511331	44511331	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr20:44511331A>G	ENST00000372523.1	+	2	195	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M34V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	34						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)				GGCCCTGACAATGCTGAATGG	0.512																																						ENST00000372523.1											0			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(100-102)Atg>Gtg	zinc finger, SWIM-type containing 1						126.0	109.0	115.0					20																	44511331		2203	4300	6503	SO:0001583	missense	90204					zinc ion binding	g.chr20:44511331A>G	AL008726	AL008726	CCDS13382.2	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	"""Zinc fingers, SWIM-type"""	16155	16155	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 20 open reading frame 162"""	C20orf162	"""chromosome 20 open reading frame 162"""	C20orf162				Standard	Standard	NM_080603	NM_080603		Approved	dJ337O18.5	uc010ghi.3	uc010ghi.3	Q9BR11	Q9BR11	OTTHUMG00000074023	OTTHUMG00000074023	ENST00000372523.1:c.100A>G	20.37:g.44511331A>G	ENSP00000361601:p.Met34Val		ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M34V	p.M34V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	195	+		Myeloproliferative disorder(115;0.028)	34		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.100A>G	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	7.834	0.720395	0.15372	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.21734	1.99;1.99	5.38	-0.816	0.10839	5.38	-0.816	0.10839	.	0.470223	0.17595	N	0.168629	T	0.09642	0.0237	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.06757	T	0.87	-17.3984	7.5248	0.27650	0.2912:0.1641:0.5447:0.0	.	34	Q9BR11	ZSWM1_HUMAN	V	34	ENSP00000361601:M34V;ENSP00000361598:M34V	ENSP00000361598:M34V	M	+	1	0	0	ZSWIM1	43944738	43944738	0.110000	0.22057	0.103000	0.21229	0.962000	0.63368	0.362000	0.20284	-0.064000	0.13043	0.533000	0.62120	ATG		0.512	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2		4.151599	-8	-8	61	61	NM_080603		5	12.385091	12.385091	46	0.098039	0	0	0	1	0	5	46	0.098039
TBX6	6911	broad.mit.edu	37	16	30102139	30102139	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:30102139C>T	ENST00000395224.2	-	3	352	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	TBX6_ENST00000279386.2_Missense_Mutation_p.R98Q|YPEL3_ENST00000565479.1_5'Flank|TBX6_ENST00000553607.1_Missense_Mutation_p.R98Q	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	98					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCATAGCTCCCGGTTCTCCAG	0.637																																						ENST00000553607.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(292-294)cGg>cAg	T-box 6						45.0	47.0	47.0					16																	30102139		2197	4300	6497	SO:0001583	missense	6911			anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30102139C>T	AJ007989	AJ007989	CCDS10670.1	CCDS10670.1	16p11.2	2008-02-05			2008-02-05			ENSG00000149922	ENSG00000149922	ENSG00000149922	ENSG00000149922		"""T-boxes"""	"""T-boxes"""	11605	11605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602427	602427						9888994, 9933572	9888994, 9933572	Standard	Standard	NM_004608	NM_004608		Approved		uc010veh.2	uc010veh.2	O95947	O95947	OTTHUMG00000132115	OTTHUMG00000132115	ENST00000395224.2:c.293G>A	16.37:g.30102139C>T	ENSP00000378650:p.Arg98Gln		TBX6_ENST00000395224.2_Missense_Mutation_p.R98Q|TBX6_ENST00000279386.2_Missense_Mutation_p.R98Q	p.R98Q			O95947	TBX6_HUMAN			2	986	-			98		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.293G>A	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341371	0.41498	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.87650	-2.28;-2.28;-2.28	5.07	2.81	0.32909	5.07	2.81	0.32909	p53-like transcription factor, DNA-binding (1);	0.590849	0.16409	N	0.215671	T	0.79263	0.4416	L	0.43701	1.375	0.23841	N	0.996697	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.64322	-0.6435	10	0.29301	T	0.29	.	6.1134	0.20114	0.0:0.5161:0.0:0.4839	.	98;98	O95947;Q9HA44	TBX6_HUMAN;.	Q	98	ENSP00000378650:R98Q;ENSP00000279386:R98Q;ENSP00000461223:R98Q	ENSP00000279386:R98Q	R	-	2	0	0	TBX6	30009640	30009640	0.614000	0.27017	1.000000	0.80357	0.984000	0.73092	0.069000	0.14552	1.135000	0.42183	0.561000	0.74099	CGG		0.637	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2		71.553322	-24	-24	44	44	NM_004608, NM_080758		22	71.640546	71.640546	18	0.550000	0	0	0	1	0	22	18	0.55
DSCAML1	57453	broad.mit.edu	37	11	117307958	117307958	+	Missense_Mutation	SNP	C	C	T	rs527533395	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr11:117307958C>T	ENST00000321322.6	-	26	4781	c.4780G>A	c.(4780-4782)Ggg>Agg	p.G1594R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1324R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1534					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AACACCTCCCCGGAGCTGTTG	0.652																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4780-4782)Ggg>Agg	Down syndrome cell adhesion molecule like 1						88.0	87.0	87.0					11																	117307958		2201	4296	6497	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307958C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.4780G>A	11.37:g.117307958C>T	ENSP00000315465:p.Gly1594Arg		DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1324R	p.G1594R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4781	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1534		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4780G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127761	0.06753	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.52295	0.67;0.67	4.63	1.69	0.24217	4.63	1.69	0.24217	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28466	0.0704	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.22173	-1.0224	9	0.15952	T	0.53	.	8.7128	0.34393	0.0:0.5143:0.0:0.4857	.	1534	Q8TD84	DSCL1_HUMAN	R	1324;1594;1301	ENSP00000434335:G1324R;ENSP00000315465:G1594R	ENSP00000315465:G1594R	G	-	1	0	0	DSCAML1	116813168	116813168	0.000000	0.05858	0.004000	0.12327	0.555000	0.35460	0.153000	0.16323	0.139000	0.18822	-0.140000	0.14226	GGG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		9.529748	-3	-3	92	92	NM_020693		6	14.686703	14.686703	36	0.142857	0	0	0	1	0	6	36	0.142857
PYGL	5836	broad.mit.edu	37	14	51379761	51379761	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr14:51379761C>T	ENST00000216392.7	-	13	1938	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	PYGL_ENST00000532462.1_Missense_Mutation_p.A536T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Missense_Mutation_p.A502T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	536					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TTCACCTTGGCGAGTTCCCGG	0.483																																						ENST00000216392.7											0			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1606-1608)Gcc>Acc	phosphorylase, glycogen, liver						86.0	83.0	84.0					14																	51379761		2203	4300	6503	SO:0001583	missense	5836			glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51379761C>T			CCDS32080.1, CCDS53894.1	CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	"""Glycogen phosphorylases"""	9725	9725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	613741	"""phosphorylase, glycogen; liver"""		"""phosphorylase, glycogen; liver"""			2877458	2877458	Standard	Standard	NM_002863	NM_002863		Approved		uc001wyu.3	uc001wyu.3	P06737	P06737	OTTHUMG00000166596	OTTHUMG00000166596	ENST00000216392.7:c.1606G>A	14.37:g.51379761C>T	ENSP00000216392:p.Ala536Thr		PYGL_ENST00000532462.1_Missense_Mutation_p.A536T|PYGL_ENST00000544180.2_Missense_Mutation_p.A502T|RP11-218E20.5_ENST00000557343.1_RNA	p.A536T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			13	1938	-	all_epithelial(31;0.00825)|Breast(41;0.148)		536		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1606G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	7.971	0.749023	0.15710	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93019	-3.15;-3.15;-3.15	5.82	-6.63	0.01807	5.82	-6.63	0.01807	.	0.652426	0.17325	N	0.178356	D	0.91171	0.7219	M	0.80746	2.51	0.27767	N	0.943603	B;B;B	0.13594	0.006;0.008;0.006	B;B;B	0.21151	0.013;0.033;0.002	T	0.73685	-0.3905	10	0.23302	T	0.38	-1.1614	16.8285	0.85937	0.2662:0.6684:0.0:0.0654	.	502;502;536	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	T	536;502;536	ENSP00000431657:A536T;ENSP00000443787:A502T;ENSP00000216392:A536T	ENSP00000216392:A536T	A	-	1	0	0	PYGL	50449511	50449511	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.458000	0.02372	-1.117000	0.02965	-0.152000	0.13540	GCC		0.483	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3		0.698723	-12	-12	25	25	NM_002863		3	6.52759	6.527590	31	0.088235	0	0	0	1	0	3	31	0.088235
KDM1A	23028	broad.mit.edu	37	1	23377001	23377001	+	Silent	SNP	T	T	C			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:23377001T>C	ENST00000356634.3	+	3	788	c.639T>C	c.(637-639)atT>atC	p.I213I	KDM1A_ENST00000542151.1_Silent_p.I233I|KDM1A_ENST00000400181.4_Silent_p.I233I|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	213	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTTTTCATTAGAAACCGCA	0.378																																						ENST00000400181.4											0			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(697-699)atT>atC	lysine (K)-specific demethylase 1A						109.0	106.0	107.0					1																	23377001		2203	4300	6503	SO:0001819	synonymous_variant	23028			blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23377001T>C	AL031428	AL031428	CCDS30627.1, CCDS53278.1	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	"""Chromatin-modifying enzymes / K-demethylases"""	29079	29079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609132	609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	9628581, 12493763	Standard	Standard	NM_015013	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	uc001bgj.2	O60341	O60341	OTTHUMG00000003220	OTTHUMG00000003220	ENST00000356634.3:c.639T>C	1.37:g.23377001T>C			KDM1A_ENST00000356634.3_Silent_p.I213I|KDM1A_ENST00000542151.1_Silent_p.I233I|RP1-184J9.2_ENST00000427154.1_RNA	p.I233I	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			4	803	+			213	SWIRM.	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.699T>C	CCDS30627.1																																																																																									0.378	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		-12.245007	-16	-16	64	64	NM_015013		3	6.845041	6.845041	79	0.036585	0	0	0	1	0	3	79	0.036585
CRISPLD2	83716	broad.mit.edu	37	16	84940226	84940226	+	Missense_Mutation	SNP	G	G	A	rs147087796		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:84940226G>A	ENST00000262424.5	+	15	1696	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R490Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	491					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AAGGCCTTCCGGATCTTTGCT	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.0					ENST00000262424.5											0			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1471-1473)cGg>cAg	cysteine-rich secretory protein LCCL domain containing 2	G	GLN/ARG	1,4397		0,1,2198	68.0	72.0	70.0		1472	5.0	1.0	16	dbSNP_134	70	0,8600		0,0,4300	no	missense	CRISPLD2	NM_031476.3	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	491/498	84940226	1,12997	2199	4300	6499	SO:0001583	missense	83716				extracellular region|transport vesicle		g.chr16:84940226G>A	AL136861	AL136861	CCDS10949.1	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196	ENSG00000103196	ENSG00000103196				25248	25248	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612434	612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	11230166	Standard	Standard	NM_031476	NM_031476		Approved	DKFZP434B044	uc010voh.1	uc010voh.1	Q9H0B8	Q9H0B8	OTTHUMG00000137644	OTTHUMG00000137644	ENST00000262424.5:c.1472G>A	16.37:g.84940226G>A	ENSP00000262424:p.Arg491Gln		CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R490Q	p.R491Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			15	1696	+			491		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1472G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748468	0.89753	2.27E-4	0.0	ENSG00000103196	ENST00000262424	D	0.89415	-2.51	5.03	5.03	0.67393	5.03	5.03	0.67393	LCCL (1);	0.000000	0.64402	D	0.000001	D	0.89466	0.6723	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	P	0.50136	0.632	D	0.89192	0.3551	10	0.44086	T	0.13	.	14.2425	0.65966	0.0:0.0:1.0:0.0	.	491	Q9H0B8	CRLD2_HUMAN	Q	491	ENSP00000262424:R491Q	ENSP00000262424:R491Q	R	+	2	0	0	CRISPLD2	83497727	83497727	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.819000	0.62664	2.495000	0.84180	0.655000	0.94253	CGG		0.537	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2		23.048823	-23	-23	96	96	NM_031476		11	29.949701	29.949701	55	0.166667	0	0	0	1	0	11	55	0.166667
ADAMTSL1	92949	broad.mit.edu	37	9	18906784	18906784	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:18906784G>A	ENST00000380548.4	+	28	5395	c.5056G>A	c.(5056-5058)Ggc>Agc	p.G1686S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G387S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1686	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACTACGGCTTCCAGTC	0.647																																						ENST00000380548.4											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(5056-5058)Ggc>Agc	ADAMTS-like 1						44.0	58.0	53.0					9																	18906784		2134	4224	6358	SO:0001583	missense	92949				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906784G>A	AF176313	AF176313	CCDS6485.1, CCDS47954.1	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			2013-01-11			ENSG00000178031	ENSG00000178031	ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	14632	14632	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""punctin"""	"""punctin"""	609198	609198	"""chromosome 9 open reading frame 94"""	C9orf94	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	9628581, 11805097	Standard	Standard	NM_001040272	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	uc003zne.4	Q8N6G6	Q8N6G6	OTTHUMG00000019604	OTTHUMG00000019604	ENST00000380548.4:c.5056G>A	9.37:g.18906784G>A	ENSP00000369921:p.Gly1686Ser		ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G387S	p.G1686S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5395	+			1686	TSP type-1 9.	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.5056G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487289	0.96323	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.71461	-0.57;-0.57	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.89476	0.6726	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92365	0.5900	10	0.87932	D	0	.	19.2299	0.93834	0.0:0.0:1.0:0.0	.	1187;387;1686	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	S	1686;387;390	ENSP00000369921:G1686S;ENSP00000369918:G387S	ENSP00000325584:G390S	G	+	1	0	0	ADAMTSL1	18896784	18896784	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.765000	0.98953	2.549000	0.85964	0.563000	0.77884	GGC		0.647	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		47.421517	1	1	46	46			15	47.480776	47.480776	18	0.454545	0	0	0	1	0	15	18	0.454545
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		130.401597	-14	-14	98	98	NM_002072		40	130.412738	130.412738	38	0.512821	0	0	0	1	0	40	38	0.512821
DDX3Y	8653	broad.mit.edu	37	Y	15028513	15028513	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chrY:15028513C>A	ENST00000336079.3	+	14	1682	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S	DDX3Y_ENST00000360160.4_Missense_Mutation_p.R526S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATATGTGCATCGTATTGGCCG	0.383																																						ENST00000336079.3											0			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1576-1578)Cgt>Agt	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																			SO:0001583	missense	8653				cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028513C>A	AF000984	AF000984	CCDS14782.1	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	"""DEAD-boxes"""	2699	2699	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			400010	400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	9381176	Standard	Standard	NM_004660	NM_004660		Approved		uc004fsv.2	uc004fsv.2	O15523	O15523	OTTHUMG00000036324	OTTHUMG00000036324	ENST00000336079.3:c.1576C>A	Y.37:g.15028513C>A	ENSP00000336725:p.Arg526Ser		DDX3Y_ENST00000360160.4_Missense_Mutation_p.R526S	p.R526S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			14	1682	+			526	Helicase C-terminal.	B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1576C>A	CCDS14782.1																																																																																									0.383	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1		-7.228567	100	100	100	100	NM_004660		3	6.496441	6.496441	60	0.047619	1	0	0.004672	1	0.00495515	3	60	0.047619
ITPR3	3710	broad.mit.edu	37	6	33654821	33654821	+	Silent	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:33654821G>A	ENST00000374316.5	+	45	7075	c.6015G>A	c.(6013-6015)gaG>gaA	p.E2005E	ITPR3_ENST00000605930.1_Silent_p.E2005E			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2005					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCTGATGGAGAGCCGGCATG	0.642																																						ENST00000374316.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6013-6015)gaG>gaA	inositol 1,4,5-trisphosphate receptor, type 3						64.0	60.0	61.0					6																	33654821		2202	4294	6496	SO:0001819	synonymous_variant	3710			activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33654821G>A	D26351	D26351	CCDS4783.1	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	"""Ion channels / Inositol triphosphate receptors"""	6182	6182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147267	147267	"""inositol 1,4,5-triphosphate receptor, type 3"""		"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	8081734, 8288584	Standard	Standard	NM_002224	NM_002224		Approved	IP3R3	uc021ywr.1	uc021ywr.1	Q14573	Q14573	OTTHUMG00000014532	OTTHUMG00000014532	ENST00000374316.5:c.6015G>A	6.37:g.33654821G>A			ITPR3_ENST00000605930.1_Silent_p.E2005E	p.E2005E			Q14573	ITPR3_HUMAN			45	7075	+			2005		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.6015G>A	CCDS4783.1																																																																																									0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		210.928338	-11	-11	89	89	NM_002224		64	213.469147	213.469147	31	0.673684	0	0	0	1	0	64	31	0.673684
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93.0	90.0	91.0					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		82.390636	15	15	69	69			27	82.674802	82.674802	36	0.428571	0	0	0	1	0	27	36	0.428571
C6orf89	221477	broad.mit.edu	37	6	36882388	36882388	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:36882388C>T	ENST00000480824.2	+	6	908	c.614C>T	c.(613-615)gCg>gTg	p.A205V	C6orf89_ENST00000373685.1_Missense_Mutation_p.A205V|C6orf89_ENST00000359359.2_Missense_Mutation_p.A99V|C6orf89_ENST00000510325.2_Missense_Mutation_p.A99V|C6orf89_ENST00000355190.3_Missense_Mutation_p.A212V			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	205					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TACCCTGAGGCGACAGAAGGC	0.507																																						ENST00000480824.2											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(613-615)gCg>gTg	chromosome 6 open reading frame 89						176.0	185.0	182.0					6																	36882388		2203	4300	6503	SO:0001583	missense	221477				integral to membrane		g.chr6:36882388C>T	AK058086	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			2013-03-14			ENSG00000198663	ENSG00000198663	ENSG00000198663	ENSG00000198663				21114	21114	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""	"""bombesin receptor activated protein"""								21857995, 23460338	21857995, 23460338	Standard	Standard	NM_152734	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	uc003omw.3	Q6UWU4	Q6UWU4	OTTHUMG00000014613	OTTHUMG00000014613	ENST00000480824.2:c.614C>T	6.37:g.36882388C>T	ENSP00000475947:p.Ala205Val		C6orf89_ENST00000510325.2_Missense_Mutation_p.A99V|C6orf89_ENST00000355190.3_Missense_Mutation_p.A212V|C6orf89_ENST00000359359.2_Missense_Mutation_p.A99V|C6orf89_ENST00000373685.1_Missense_Mutation_p.A205V	p.A205V			Q6UWU4	CF089_HUMAN			6	908	+			205		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.614C>T		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.649076	0.00785	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.03	-8.82	0.00810	5.03	-8.82	0.00810	.	1.015020	0.07871	N	0.967887	T	0.02304	0.0071	N	0.00538	-1.39	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.43750	-0.9372	9	0.02654	T	1	0.7461	19.7373	0.96212	0.0:0.7959:0.0:0.2041	.	205;212	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	V	99;99;212;205	.	ENSP00000347322:A212V	A	+	2	0	0	C6orf89	36990366	36990366	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.279000	0.02807	-2.514000	0.00502	-1.821000	0.00599	GCG		0.507	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2		400.906685	-15	-15	156	156	NM_152734		125	403.290764	403.290764	78	0.615764	0	0	0	1	0	125	78	0.615764
ACVRL1	94	broad.mit.edu	37	12	52309169	52309169	+	Silent	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr12:52309169G>A	ENST00000388922.4	+	7	1216	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ACVRL1_ENST00000419526.2_Silent_p.A137A|ACVRL1_ENST00000550683.1_Silent_p.A325A	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCGGCCTGGCGCACCTGCACG	0.607																																						ENST00000550683.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(973-975)gcG>gcA	activin A receptor type II-like 1						56.0	51.0	53.0					12																	52309169		2203	4300	6503	SO:0001819	synonymous_variant	94			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309169G>A	L17075	L17075	CCDS31804.1	CCDS31804.1	12q13.13	2014-09-17			2014-09-17			ENSG00000139567	ENSG00000139567	ENSG00000139567	ENSG00000139567				175	175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601284	601284		ACVRLK1, ORW2		ACVRLK1, ORW2		8397373, 8640225	8397373, 8640225	Standard	Standard	NM_000020	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	uc001rzk.3	P37023	P37023	OTTHUMG00000169507	OTTHUMG00000169507	ENST00000388922.4:c.933G>A	12.37:g.52309169G>A			ACVRL1_ENST00000419526.2_Silent_p.A137A|ACVRL1_ENST00000388922.4_Silent_p.A311A	p.A325A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	1076	+			311	Protein kinase.	A6NGA8	Silent	SNP	ENST00000388922.4	37	c.975G>A	CCDS31804.1																																																																																									0.607	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		37.666777	-1	-1	42	42			13	38.079454	38.079454	21	0.382353	0	0	0	1	0	13	21	0.382353
NPHP4	261734	broad.mit.edu	37	1	6012777	6012777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:6012777delG	ENST00000378156.4	-	7	1058	c.793delC	c.(793-795)cagfs	p.Q265fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	265					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGGTCCTGGACGTGGAGC	0.637																																						ENST00000378156.4											0			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(793-795)cagfs	nephronophthisis 4						18.0	19.0	19.0					1																	6012777		1855	4084	5939	SO:0001589	frameshift_variant	261734			actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6012777delG	AB014573	AB014573	CCDS44052.1	CCDS44052.1	1p36	2010-03-26			2010-03-26			ENSG00000131697	ENSG00000131697	ENSG00000131697	ENSG00000131697				19104	19104	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215	607215						11920287, 12205563	11920287, 12205563	Standard	Standard	XR_244787	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	uc001alq.2	O75161	O75161	OTTHUMG00000000701	OTTHUMG00000000701	ENST00000378156.4:c.793delC	1.37:g.6012777delG	ENSP00000367398:p.Gln265fs		NPHP4_ENST00000478423.2_5'UTR	p.Q265fs	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	7	1058	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	265		Q8IWC0	Frame_Shift_Del	DEL	ENST00000378156.4	37	c.793delC	CCDS44052.1																																																																																									0.637	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	.	.	1	1	7	7			2			4	0.33						2	4	0.33
PHLPP1	23239	broad.mit.edu	37	18	60587193	60587193	+	Splice_Site	DEL	T	T	-			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr18:60587193delT	ENST00000262719.5	+	10	3040	c.2806delT	c.(2806-2808)tta>ta	p.L936fs	PHLPP1_ENST00000400316.4_Splice_Site_p.L424fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	936					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTTATACAGCTTATTTTGTAA	0.393																																						ENST00000400316.4											0			endometrium(2)|kidney(2)|lung(13)	17						c.(1270-1272)tta>ta	PH domain and leucine rich repeat protein phosphatase 1						29.0	26.0	27.0					18																	60587193		1802	4070	5872	SO:0001630	splice_region_variant	23239			apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60587193delT	AB011178	AB011178	CCDS45881.1, CCDS45881.2	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	20610	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609396	609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	10570941, 15808505	Standard	Standard	NM_194449	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	uc021ule.1	O60346	O60346	OTTHUMG00000150629	OTTHUMG00000150629	ENST00000262719.5:c.2805-1T>-	18.37:g.60587193delT			PHLPP1_ENST00000262719.5_Splice_Site_p.L936fs	p.L424fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			10	3051	+			936		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Splice_Site	DEL	ENST00000262719.5	37	c.1270delT	CCDS45881.2																																																																																									0.393	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	.	.	4	4	11	11	NM_194449	Frame_Shift_Del	2			4	0.33						2	4	0.33
