#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSMD2	114784	broad.mit.edu	37	1	34003036	34003036	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805G>A	c.(9805-9807)Gat>Aat	p.D3269N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9805-9807)Gat>Aat		CUB and Sushi multiple domains 2							101.0	105.0	104.0					1																	34003036		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003036C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9805+1G>A	1.37:g.34003036C>T			Somatic					p.D3269N	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			61	9981	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3247					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373381.4	37	c.9805G>A		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990137	0.54041	.	.	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.66	5.66	0.87406	Sushi/SCR/CCP (1);	0.053759	0.64402	N	0.000001	T	0.36663	0.0975	M	0.75264	2.295	0.80722	D	1	B;B	0.17268	0.003;0.021	B;B	0.30029	0.016;0.11	T	0.12142	-1.0559	9	.	.	.	.	18.7275	0.91720	0.0:1.0:0.0:0.0	.	3125;3269	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	3269	ENSP00000362479:D3269N	.	D	-	1	0	CSMD2	33775623	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.718000	0.84743	2.673000	0.90976	0.555000	0.69702	GAT		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	Missense_Mutation	5	152	5	152	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(586-588)Ggc>Tgc		collagen, type IX, alpha 2							145.0	123.0	131.0					1																	40776809		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40776809C>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.586G>T	1.37:g.40776809C>A	ENSP00000361834:p.Gly196Cys		Somatic					p.G196C	NM_001852.3	NP_001843.1	WXS	Illumina GAIIx	Phase_I	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	682	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	196			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.586G>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.6|24.6	4.544455|4.544455	0.86022|0.86022	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.99369|.	-5.78|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.049453|0.049453	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89529|0.89529	0.6741|0.6741	H|H	0.99104|0.99104	4.43|4.43	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93363|0.93363	0.6728|0.6728	10|6	0.87932|.	D|.	0|.	.|.	15.2358|15.2358	0.73430|0.73430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	196|.	Q14055|.	CO9A2_HUMAN|.	C|V	196|184	ENSP00000361834:G196C|.	ENSP00000361834:G196C|.	G|G	-|-	1|2	0|0	COL9A2|COL9A2	40549396|40549396	0.825000|0.825000	0.29262|0.29262	0.570000|0.570000	0.28473|0.28473	0.175000|0.175000	0.22909|0.22909	1.972000|1.972000	0.40540|0.40540	2.660000|2.660000	0.90430|0.90430	0.558000|0.558000	0.71614|0.71614	GGC|GGG		0.617	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		14	58	14	58	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46527681	46527681	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000420542.1_Silent_p.E228E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGTGACACTGCTCTTCAAATA	0.358																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(682-684)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							222.0	207.0	212.0					1																	46527681		2203	4300	6503	SO:0001819	synonymous_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46527681C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.684G>A	1.37:g.46527681C>T			Somatic				PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000420542.1_Silent_p.E228E	p.E228E	NM_003629.3	NP_003620.3	WXS	Illumina GAIIx	Phase_I	Q92569	P55G_HUMAN			6	1373	-	Acute lymphoblastic leukemia(166;0.155)		228					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	c.684G>A	CCDS529.1																																																																																				0.358	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		17	123	17	123	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(955-957)tgT>tgA		SCL/TAL1 interrupting locus							75.0	75.0	75.0					1																	47755173		2203	4300	6503	SO:0001587	stop_gained	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47755173A>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.957T>A	1.37:g.47755173A>T	ENSP00000353544:p.Cys319*		Somatic				STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*	p.C319*	NM_001282936.1	NP_001269865.1	WXS	Illumina GAIIx	Phase_I	Q15468	STIL_HUMAN			10	1320	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	319					Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	c.957T>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	37	6.222840	0.97390	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.69	0.378	0.16204	.	0.336296	0.37393	N	0.002113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5671	2.3682	0.04324	0.5144:0.1603:0.2216:0.1037	.	.	.	.	X	319;319;319;319;319;272	.	ENSP00000243182:C319X	C	-	3	2	STIL	47527760	0.039000	0.19947	0.991000	0.47740	0.996000	0.88848	0.228000	0.17814	0.433000	0.26313	0.477000	0.44152	TGT		0.353	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	32	9	32	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157559034	157559034	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498																																						ENST00000271532.1																			1	Substitution - coding silent(1)	p.G89G(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(265-267)ggC>ggT		Fc receptor-like 4							77.0	81.0	79.0					1																	157559034		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559034G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.267C>T	1.37:g.157559034G>A			Somatic				FCRL4_ENST00000448509.2_5'UTR	p.G89G	NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	Q96PJ5	FCRL4_HUMAN			3	402	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	89			Ig-like C2-type 1.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.267C>T	CCDS1166.1																																																																																				0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	81	5	81	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4342-4344)aaG>aaT		intersectin 2							197.0	183.0	187.0					2																	24432816		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432816C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4344G>T	2.37:g.24432816C>A	ENSP00000347244:p.Lys1448Asn		Somatic				ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	p.K1448N	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	Q9NZM3	ITSN2_HUMAN			35	4787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1448			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4344G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750865	0.49257	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.50001	0.76;0.76;0.76	4.26	3.36	0.38483	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.36665	U	0.002472	T	0.61173	0.2326	M	0.83012	2.62	0.48571	D	0.999671	D;D	0.64830	0.994;0.99	P;P	0.55749	0.783;0.612	T	0.67413	-0.5677	10	0.87932	D	0	.	9.4607	0.38783	0.0:0.833:0.0:0.167	.	1421;1448	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	N	1421;1448;1421	ENSP00000354561:K1421N;ENSP00000347244:K1448N;ENSP00000370250:K1421N	ENSP00000347244:K1448N	K	-	3	2	ITSN2	24286320	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.984000	0.40658	2.102000	0.63906	0.455000	0.32223	AAG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	192	4	192	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCACAAGCAGAGTGCTGAAG	0.408		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1024-1026)aGa>aAa		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						119.0	114.0	116.0					3																	41268787		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41268787G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1025G>A	3.37:g.41268787G>A	ENSP00000344456:p.Arg342Lys		Somatic				CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K	p.R342K	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	1305	+			342					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1025G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883962	0.97062	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.76574	2.34	0.80722	D	1	P;D	0.63046	0.685;0.992	P;D	0.65443	0.716;0.935	T	0.21518	-1.0243	10	0.33940	T	0.23	-5.126	19.382	0.94540	0.0:0.0:1.0:0.0	.	270;342	B4DSW9;P35222	.;CTNB1_HUMAN	K	342;342;342;335;342	ENSP00000385604:R342K;ENSP00000379486:R342K;ENSP00000344456:R342K;ENSP00000411226:R335K;ENSP00000379488:R342K	ENSP00000344456:R342K	R	+	2	0	CTNNB1	41243791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	AGA		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	70	9	70	---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2575-2577)Gct>Act		Scm-like with four mbt domains 1							123.0	111.0	115.0					3																	52939178		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939178C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2575G>A	3.37:g.52939178C>T	ENSP00000378235:p.Ala859Thr		Somatic				SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	p.A859T	NM_016329.3	NP_057413.2	WXS	Illumina GAIIx	Phase_I	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	21	2957	-			859			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2575G>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853024	0.91355	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.16	6.16	0.99307	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.51725	-0.8669	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	816;859	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	T	859;859;816;859	ENSP00000378235:A859T;ENSP00000350789:A859T;ENSP00000296295:A816T;ENSP00000378233:A859T	ENSP00000296295:A816T	A	-	1	0	SFMBT1	52914218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCT		0.453	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		11	52	11	52	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(61-63)Cac>Aac		G protein-coupled receptor 87							73.0	71.0	71.0					3																	151012973		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012973G>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.61C>A	3.37:g.151012973G>T	ENSP00000260843:p.His21Asn		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.H21N	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	525	-			21					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.61C>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215422	0.22373	.	.	ENSG00000138271	ENST00000260843	T	0.60672	0.17	5.31	3.48	0.39840	.	1.536280	0.03392	N	0.202011	T	0.42404	0.1201	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23691	-1.0181	10	0.27785	T	0.31	-0.7584	7.8688	0.29554	0.1565:0.1353:0.7083:0.0	.	21	Q9BY21	GPR87_HUMAN	N	21	ENSP00000260843:H21N	ENSP00000260843:H21N	H	-	1	0	GPR87	152495663	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.344000	0.19962	1.362000	0.46000	0.655000	0.94253	CAC		0.488	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			15	64	15	64	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(241-243)cCg>cTg		fibroblast growth factor receptor-like 1							35.0	32.0	33.0					4																	1016153		2195	4294	6489	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1016153C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.242C>T	4.37:g.1016153C>T	ENSP00000381498:p.Pro81Leu		Somatic				FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L	p.P81L			WXS	Illumina GAIIx	Phase_I	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	822	+			81			Ig-like C2-type 1.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.242C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	10.98	1.504717	0.26949	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.62	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141281	0.50627	D	0.000113	T	0.53932	0.1827	L	0.58583	1.82	0.43673	D	0.996108	P	0.42871	0.792	B	0.37047	0.24	T	0.56805	-0.7918	10	0.38643	T	0.18	-25.4316	10.3474	0.43913	0.3115:0.6885:0.0:0.0	.	81	Q8N441	FGRL1_HUMAN	L	81;51;81;81;81;81	ENSP00000381498:P81L;ENSP00000425025:P81L;ENSP00000423091:P81L;ENSP00000424037:P81L;ENSP00000264748:P81L	ENSP00000264748:P81L	P	+	2	0	FGFRL1	1006153	0.537000	0.26386	0.999000	0.59377	0.205000	0.24178	0.937000	0.28951	2.109000	0.64355	0.457000	0.33378	CCG		0.687	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		7	22	7	22	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.602																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1327-1329)Gac>Aac									106.0	100.0	102.0					5																	140589806		2203	4298	6501	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589806G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1327G>A	5.37:g.140589806G>A	ENSP00000239450:p.Asp443Asn		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	p.D443N	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1516	+			443			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1327G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388069	0.61956	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.67698	-0.28;-0.28	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85805	0.5782	M	0.93283	3.4	0.46701	D	0.999166	D	0.89917	1.0	D	0.97110	1.0	D	0.90355	0.4369	9	0.87932	D	0	.	15.759	0.78063	0.0:0.0:1.0:0.0	.	443	Q9Y5F1	PCDBC_HUMAN	N	106;443;63	ENSP00000440199:D106N;ENSP00000239450:D443N	ENSP00000239450:D443N	D	+	1	0	PCDHB12	140569990	1.000000	0.71417	0.746000	0.31095	0.044000	0.14063	7.939000	0.87685	1.859000	0.53934	0.485000	0.47835	GAC		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		15	123	15	123	---	---	---	---
LHFPL5	222662	broad.mit.edu	37	6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000373853.1	+	1	403	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000360215.1_Missense_Mutation_p.E9K			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(25-27)Gag>Aag		lipoma HMGIC fusion partner-like 5							92.0	83.0	86.0					6																	35773472		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773472G>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.25G>A	6.37:g.35773472G>A	ENSP00000362960:p.Glu9Lys		Somatic				LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	p.E9K	NM_182548.3	NP_872354.1	WXS	Illumina GAIIx	Phase_I	Q8TAF8	TMHS_HUMAN			1	402	+			9					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.25G>A	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396687	0.96009	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.79845	-1.31;-1.31	5.54	4.68	0.58851	.	0.046647	0.85682	D	0.000000	D	0.86867	0.6036	M	0.81682	2.555	0.53005	D	0.999966	D	0.63880	0.993	D	0.70935	0.971	D	0.89043	0.3450	10	0.72032	D	0.01	-20.6434	14.2282	0.65873	0.0715:0.0:0.9285:0.0	.	9	Q8TAF8	TMHS_HUMAN	K	9	ENSP00000362960:E9K;ENSP00000353346:E9K	ENSP00000353346:E9K	E	+	1	0	LHFPL5	35881450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.775000	0.98995	1.340000	0.45581	0.542000	0.68232	GAG		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		13	75	13	75	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39877613	39877613	+	Silent	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000340692.5	-	9	1071	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373186.4_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000308559.7_Silent_p.G356G			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1066-1068)ggG>ggT		molybdenum cofactor synthesis 1							114.0	102.0	106.0					6																	39877613		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877613C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1068G>T	6.37:g.39877613C>A			Somatic				MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G	p.G356G	NM_005943.5	NP_005934.2	WXS	Illumina GAIIx	Phase_I	Q9NZB8	MOCS1_HUMAN			8	1205	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		356			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1068G>T																																																																																					0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		30	108	30	108	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2832109	2832109	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000520002.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602557.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8605-8607)gcC>gcT		CUB and Sushi multiple domains 1							39.0	42.0	41.0					8																	2832109		1979	4144	6123	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832109G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8607C>T	8.37:g.2832109G>A			Somatic				CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602557.1_Silent_p.A2869A	p.A2869A			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9162	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2869			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8607C>T		.	.	.	.	.	.	.	.	.	.	G	6.196	0.404332	0.11754	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.81	-11.0	0.00169	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	.	6.7324	0.23390	0.3017:0.0826:0.509:0.1067	.	.	.	.	C	2286	.	.	R	-	1	0	CSMD1	2819516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-1.899000	0.01098	-1.202000	0.01658	CGT		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	15	3	15	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T	rs374072601		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(229-231)gGc>gTc		zinc finger protein 623							75.0	79.0	78.0					8																	144732272		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732272G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.230G>T	8.37:g.144732272G>T	ENSP00000445979:p.Gly77Val		Somatic				ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	p.G77V	NM_014789.3	NP_055604	WXS	Illumina GAIIx	Phase_I	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	319	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		77					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.230G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.017	0.983932	0.18889	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.05855	3.38;3.38;3.4	3.5	1.7	0.24286	.	.	.	.	.	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	0.999997	B	0.23650	0.089	B	0.24269	0.052	T	0.41124	-0.9526	9	0.56958	D	0.05	-4.0954	5.3291	0.15922	0.3633:0.0:0.6367:0.0	.	77	O75123	ZN623_HUMAN	V	37;37;37;77;77	ENSP00000435232:G37V;ENSP00000411139:G37V;ENSP00000445979:G77V	ENSP00000330358:G37V	G	+	2	0	ZNF623	144803415	0.001000	0.12720	0.001000	0.08648	0.219000	0.24729	1.029000	0.30140	0.496000	0.27904	0.655000	0.94253	GGC		0.547	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		33	73	33	73	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000299275.6	+	11	1528	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1522-1524)Cag>Tag		pleckstrin homology domain containing, family A member 5							105.0	101.0	102.0					12																	19436440		2203	4300	6503	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436440C>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1522C>T	12.37:g.19436440C>T	ENSP00000299275:p.Gln508*		Somatic				PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*	p.Q508*	NM_001143821.2	NP_001137293.2	WXS	Illumina GAIIx	Phase_I	Q9HAU0	PKHA5_HUMAN			11	1526	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		508					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.1522C>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	41	8.892666	0.98992	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6809	17.0912	0.86622	0.0:1.0:0.0:0.0	.	.	.	.	X	508;508;508;515;508;514;508;266;508;400;400;400	.	ENSP00000299275:Q508X	Q	+	1	0	PLEKHA5	19327707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.804000	0.75186	2.321000	0.78463	0.655000	0.94253	CAG		0.478	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		26	93	26	93	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608023	28608023	+	Splice_Site	SNP	C	C	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000241453.7	-	15	2024		c.e15+1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.e15+1		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						215.0	187.0	196.0					13																	28608023		2203	4300	6503	SO:0001630	splice_region_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608023C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1942+1G>C	13.37:g.28608023C>G			Somatic				FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	2024	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)						A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	37		CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658039	0.47467	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27506023	1.000000	0.71417	0.992000	0.48379	0.221000	0.24807	7.016000	0.76393	2.705000	0.92388	0.655000	0.94253	.		0.433	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	31	101	31	101	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2005-2007)Atg>Gtg		protein kinase D1							118.0	116.0	117.0					14																	30068924		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068924T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2005A>G	14.37:g.30068924T>C	ENSP00000333568:p.Met669Val		Somatic				PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	p.M669V	NM_002742.2	NP_002733.2	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2234	-	Hepatocellular(127;0.0604)		669			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2005A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251636	0.80135	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	N	0.12182	0.205	0.80722	D	1	P	0.51933	0.949	P	0.52031	0.688	T	0.81322	-0.0985	10	0.72032	D	0.01	-26.3729	16.4237	0.83790	0.0:0.0:0.0:1.0	.	669	Q15139	KPCD1_HUMAN	V	669;677	ENSP00000333568:M669V;ENSP00000390535:M677V	ENSP00000333568:M669V	M	-	1	0	PRKD1	29138675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	ATG		0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	76	5	76	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000603300.1	-	14	1844	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000389039.6_Missense_Mutation_p.I548V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1642-1644)Atc>Gtc		dual oxidase 2							157.0	138.0	144.0					15																	45399594		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399594T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1642A>G	15.37:g.45399594T>C	ENSP00000475084:p.Ile548Val		Somatic				DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V	p.I548V			WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	2027	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	548			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1642A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	9.828	1.187676	0.21870	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.48	3.12	0.35913	.	0.144343	0.64402	D	0.000007	T	0.25082	0.0609	N	0.14661	0.345	0.20821	N	0.999845	B;B	0.15719	0.001;0.014	B;B	0.25759	0.012;0.063	T	0.20605	-1.0270	9	0.62326	D	0.03	-6.0227	6.5886	0.22634	0.1415:0.0755:0.0:0.783	.	548;110	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	V	548	.	ENSP00000373691:I548V	I	-	1	0	DUOX2	43186886	1.000000	0.71417	0.166000	0.22797	0.021000	0.10359	4.322000	0.59215	0.354000	0.24105	0.523000	0.50628	ATC		0.522	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		34	100	34	100	---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1123-1125)Cct>Tct		thyroid hormone receptor interactor 4							120.0	111.0	114.0					15																	64706363		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64706363C>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1123C>T	15.37:g.64706363C>T	ENSP00000261884:p.Pro375Ser		Somatic					p.P375S	NM_016213.4	NP_057297.2	WXS	Illumina GAIIx	Phase_I	Q15650	TRIP4_HUMAN			8	1183	+			375					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.1123C>T	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520682	0.27211	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.53	5.53	0.82687	.	0.424990	0.27941	N	0.017238	T	0.39860	0.1094	N	0.20986	0.625	0.43803	D	0.996353	B	0.15719	0.014	B	0.10450	0.005	T	0.24657	-1.0154	9	0.09084	T	0.74	-1.037	11.9854	0.53145	0.0:0.9179:0.0:0.0821	.	375	Q15650	TRIP4_HUMAN	S	375	.	ENSP00000261884:P375S	P	+	1	0	TRIP4	62493416	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.850000	0.39328	2.588000	0.87417	0.655000	0.94253	CCT		0.448	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		8	67	8	67	---	---	---	---
CEACAM7	1087	broad.mit.edu	37	19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(592-594)aAc>aGc		carcinoembryonic antigen-related cell adhesion molecule 7							172.0	161.0	165.0					19																	42187829		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187829T>C	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.593A>G	19.37:g.42187829T>C	ENSP00000006724:p.Asn198Ser		Somatic				CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000602225.1_Intron	p.N198S	NM_006890.3	NP_008821.1	WXS	Illumina GAIIx	Phase_I	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	794	-			198			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.593A>G	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548666	0.27652	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.11821	2.74;2.74	2.83	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35393	0.0930	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.10941	-1.0608	9	0.87932	D	0	.	7.4806	0.27402	0.0:0.0:0.0:1.0	.	198	Q14002	CEAM7_HUMAN	S	198;177;198	ENSP00000006724:N198S;ENSP00000385932:N198S	ENSP00000006724:N198S	N	-	2	0	CEACAM7	46879669	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	1.864000	0.39469	1.060000	0.40578	0.260000	0.18958	AAC		0.527	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		15	144	15	144	---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(118-120)tAc>tGc		divergent-paired related homeobox							138.0	119.0	125.0					19																	54137875		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137875A>G		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.119A>G	19.37:g.54137875A>G	ENSP00000365838:p.Tyr40Cys		Somatic					p.Y40C	NM_001012728.1	NP_001012746.1	WXS	Illumina GAIIx	Phase_I	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	170	+	Ovarian(34;0.19)		40						Missense_Mutation	SNP	ENST00000376650.1	37	c.119A>G	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548586	0.65311	.	.	ENSG00000204595	ENST00000376650	D	0.97430	-4.38	1.73	1.73	0.24493	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.98645	0.9546	H	0.96805	3.885	0.26875	N	0.96767	D	0.89917	1.0	D	0.91635	0.999	D	0.93294	0.6671	9	0.87932	D	0	.	5.5468	0.17069	1.0:0.0:0.0:0.0	.	40	A6NFQ7	DPRX_HUMAN	C	40	ENSP00000365838:Y40C	ENSP00000365838:Y40C	Y	+	2	0	DPRX	58829687	0.929000	0.31497	0.905000	0.35620	0.958000	0.62258	1.487000	0.35540	1.054000	0.40438	0.454000	0.30748	TAC		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		15	90	15	90	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)gCc>gTc		minichromosome maintenance complex component 5							225.0	229.0	228.0					22																	35811928		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35811928C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1310C>T	22.37:g.35811928C>T	ENSP00000216122:p.Ala437Val		Somatic				MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	p.A437V	NM_006739.3	NP_006730.2	WXS	Illumina GAIIx	Phase_I	P33992	MCM5_HUMAN			10	1464	+			437			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1310C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313649	0.95655	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.30981	1.51;1.51	5.66	4.64	0.57946	.	0.050691	0.85682	N	0.000000	T	0.71031	0.3292	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	D	0.83580	0.0117	10	0.87932	D	0	-12.5408	14.7639	0.69623	0.0:0.9305:0.0:0.0695	.	437;437;394;437	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	V	437;394;346	ENSP00000216122:A437V;ENSP00000371441:A394V	ENSP00000216122:A437V	A	+	2	0	MCM5	34141928	1.000000	0.71417	0.879000	0.34478	0.990000	0.78478	4.799000	0.62517	1.396000	0.46663	-0.150000	0.13652	GCC		0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	380	5	380	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000406316.2	-	10	3430	c.1954delC	c.(1954-1956)caafs	p.Q652fs	NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000404971.1_Frame_Shift_Del_p.Q692fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507																																						ENST00000404971.1																			6	Substitution - Missense(6)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)	lung(6)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2074-2076)caafs		neurexin 1							224.0	236.0	232.0					2																	50765580		2197	4300	6497	SO:0001589	frameshift_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765580delG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1954delC	2.37:g.50765580delG	ENSP00000384311:p.Gln652fs		Somatic				NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs	p.Q692fs	NM_001135659.1	NP_001129131.1	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3413	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	652			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Del	DEL	ENST00000406316.2	37	c.2074delC	CCDS54360.1																																																																																				0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			32	338	32	338	---	---	---	---
