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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
LDB1	8861	broad.mit.edu	37	10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000425280.1	-	11	1393	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	LDB1_ENST00000361198.5_Missense_Mutation_p.G315R|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1			21		Colorectal(252;0.122)			TCCTCGTCCCCGAACTCCCCG	0.632000																								0							SO:0001583	missense			ENST00000425280.1	1	1	hg19	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	21.900000	4.210721	0.792400	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.27890	1.64;1.64	5.490000	5.490000	0.811920	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85777	2.775	0.807220	D	1.000000	D	0.54772	0.968	B	0.37144	0.242	T	0.58120	-0.7692	10	0.87932	D	0	-3.4047	19.337900	0.943260	0.0:1.0:0.0:0.0	.	351	Q86U70	LDB1_HUMAN	R	315;351	ENSP00000354616:G315R;ENSP00000392466:G351R	ENSP00000354616:G315R	G	-	1	0	LDB1	103858025	1	0.714170	1	0.803570	9.960000e-01	0.888480	7.776000	0.855600	2.742000	0.940160	0.455000	0.322230	GGG		TCGA-IB-AAUM-01A-11D-A377-08	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	9	216	0	41	1	8.434276e-01	8	75	0	41	2		0	0	0	0	0	2	1	0.994381	9	215	0	41	2		0	0	0	0	41	2	-2.947337	1	1	0	0		1	0	1	1	1.992979	0	0.080000	2.040000	0.071832	0.980000	0.490000	1.000000	1.000000	0.889537	0.980000	1	0.710000	1.000000
DSCAML1	57453	broad.mit.edu	37	11	117307881	117307881	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	p.C1619C(1)		110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			TTTCATTGCCGCAGCCCGCAC	0.632000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000321322.6	0	1	hg19	CCDS8384.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	0	0	6	400	0	59	0	1.955125e-03	0	4	0	59	2		0	0	0	0	0	2	1	0.964437	6	397	0	58	2		0	0	0	0	59	2	-2.172429	0	1	121412	5	37	1	0	1	1	1.991255	0	0.080000	2.040000	0.071457	0.380000	0.160000	0.730000	0.350000	0.411276	0.380000	0	0.250000	0.550000
GRIK4	2900	broad.mit.edu	37	11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4			69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			TCCAACATCTCGGACACTCTC	0.612000																								0							SO:0001583	missense			ENST00000527524.2	1	1	hg19	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	14.400000	2.523560	0.448660	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13657	2.57;2.57	5.030000	5.030000	0.673930	.	0.297347	0.40385	N	0.001116	T	0.17195	0.0413	M	0.62723	1.935	0.517670	D	0.999930	B;P	0.39376	0.239;0.67	B;B	0.31869	0.078;0.137	T	0.04360	-1.0957	10	0.72032	D	0.01	.	18.362300	0.903790	0.0:1.0:0.0:0.0	.	410;410	A6H8K8;Q16099	.;GRIK4_HUMAN	L	410	ENSP00000435648:S410L;ENSP00000404063:S410L	ENSP00000404063:S410L	S	+	2	0	GRIK4	120274515	1	0.714170	9.070000e-01	0.357230	1.800000e-02	0.096640	7.480000	0.811090	2.323000	0.785720	0.462000	0.415740	TCG		TCGA-IB-AAUM-01A-11D-A377-08	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	1	0	0	7	139	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	0.981434	7	139	0	29	2		0	0	0	0	29	2	-3.017763	1	1	121412	1	27	1	0	1	1	1.991255	0	0.080000	2.040000	0.071457	0.990000	0.530000	1.000000	1.000000	0.926943	0.990000	1	0.790000	1.000000
CDON	50937	broad.mit.edu	37	11	125871630	125871630	+	Silent	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000531738.1_Silent_p.S91S|CDON_ENST00000263577.7_Silent_p.S714S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated			61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TGTGCCTAGAGGAATCTGTAA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000392693.3	1	1	hg19	CCDS58192.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	1	0	0	17	343	0	81	0	1.441973e-02	0	4	0	81	2		0	0	0	0	0	2	1	0.999966	17	341	0	78	2		0	0	0	0	81	2	-2.725401	1	1	0	0		1	0	1	1	1.991255	0	0.080000	2.040000	0.071457	0.990000	0.700000	1.000000	1.000000	0.964896	0.990000	1	0.910000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.807220	D	1.000000	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.371900	0.904090	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1	0.714170	1	0.803570	9.980000e-01	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-IB-AAUM-01A-11D-A377-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	19	308	0	86	0	1.649818e-01	1	11	0	86	2	1	9.999007e-01	21	477	1	346	7	1	0.999992	19	308	0	85	2	1	1	462	7563	0	86	2	-5.925615	1	1	121404	2	44	1	1	2	3	2.001720	0	0.080000	2.040000	0.088387	0.990000	0.930000	1.000000	1.000000	0.995854	0.990000	1	0.990000	1.000000
NUP107	57122	broad.mit.edu	37	12	69082833	69082833	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000229179.4	+	2	432	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000539906.1_5'UTR|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa		NUP107/LGR5(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		AAGAGTTTTACGTATCCTTTG	0.378000																								0							SO:0001630	splice_region_variant			ENST00000229179.4	0	1	hg19	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	11.250000	1.583042	0.282680	.	.	ENSG00000111581	ENST00000229179	.	.	.	5.450000	1.620000	0.237400	.	0.364773	0.29515	N	0.011933	T	0.28764	0.0713	N	0.19112	0.55	0.807220	D	1.000000	B	0.33288	0.406	B	0.26614	0.071	T	0.03875	-1.0996	8	.	.	.	-14.2674	7.303500	0.264340	0.4774:0.4454:0.0772:0.0	.	34	P57740	NU107_HUMAN	F	34	.	.	L	+	1	0	NUP107	67369100	1	0.714170	9.980000e-01	0.565050	8.450000e-01	0.480190	0.680000	0.253060	0.084000	0.170770	-0.541000	0.042450	CTT		TCGA-IB-AAUM-01A-11D-A377-08	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	0	0	0	9	170	0	33	0	1.437079e-01	0	12	0	33	2		0	0	0	0	0	2	1	0.994443	9	169	0	33	2		0	0	0	0	33	2	-4.353979	1	1	121412	7	37	1	1	2	3	2.001720	0	0.080000	2.040000	0.088387	0.990000	0.660000	1.000000	1.000000	0.967084	0.990000	1	0.950000	1.000000
HERC2	8924	broad.mit.edu	37	15	28518096	28518096	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:28518096G>C	ENST00000261609.7	-	8	963	c.855C>G	c.(853-855)gaC>gaG	p.D285E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CCAAGTGCTGGTCCTGCAGGG	0.612000																								0							SO:0001583	missense			ENST00000261609.7	0	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	27.900000	4.875355	0.916640	.	.	ENSG00000128731	ENST00000261609	T	0.56611	0.45	5.230000	4.300000	0.512180	.	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.75615	2.305	0.807220	D	1.000000	D	0.58970	0.984	D	0.68192	0.956	T	0.73902	-0.3836	10	0.54805	T	0.06	.	14.424100	0.672020	0.0718:0.0:0.9282:0.0	.	285	O95714	HERC2_HUMAN	E	285	ENSP00000261609:D285E	ENSP00000261609:D285E	D	-	3	2	HERC2	26191691	1	0.714170	1	0.803570	9.970000e-01	0.918780	3.274000	0.516310	1.424000	0.472170	0.644000	0.839320	GAC		TCGA-IB-AAUM-01A-11D-A377-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	0	12	221	1	37	1	3.598134e-02	4	9	1	37	3		0	0	0	0	0	2	0	0.119264	12	217	1	37	19		0	0	0	1	37	2	-2.117427	0	0	121412	7	23	1	0	1	1	1.978553	0	0.080000	2.040000	0.068449	0.990000	0.680000	1.000000	1.000000	0.965227	0.990000	1	0.920000	1.000000
KLHL25	64410	broad.mit.edu	37	15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25			25					TGGGGGCACTCGGCCTTGATC	0.612000																								0							SO:0001583	missense			ENST00000337975.5	1	1	hg19	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	11.800000	1.745761	0.309550	0.0	1.16E-4	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.78003	-1.14;-1.14	5.710000	5.710000	0.891250	Kelch-type beta propeller (1);	0.056938	0.64402	D	0.000002	T	0.73877	0.3643	L	0.39147	1.195	0.448520	D	0.997868	B	0.28470	0.213	B	0.29862	0.108	T	0.71991	-0.4425	10	0.59425	D	0.04	.	18.831400	0.921410	0.0:1.0:0.0:0.0	.	477	Q9H0H3	ENC2_HUMAN	K	477;446;477	ENSP00000336800:E477K;ENSP00000444739:E477K	ENSP00000336800:E477K	E	-	1	0	KLHL25	84112617	9.900000e-01	0.363640	9.930000e-01	0.491080	2.570000e-01	0.261270	3.248000	0.514300	2.700000	0.922000	0.462000	0.415740	GAG		TCGA-IB-AAUM-01A-11D-A377-08	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	1	0	0	23	479	0	93	0	8.073680e-02	1	9	0	93	2		0	0	0	0	0	2	1	0.999999	23	471	0	88	2		0	0	0	0	93	2	-2.907014	1	1	0	0		1	0	1	1	1.983979	0	0.080000	2.040000	0.069579	0.990000	0.730000	1.000000	1.000000	0.967363	0.990000	1	0.910000	1.000000
MAN2A2	4122	broad.mit.edu	37	15	91454724	91454724	+	Missense_Mutation	SNP	G	G	A	rs146632780	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:91454724G>A	ENST00000559717.1	+	14	2512	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	MAN2A2_ENST00000360468.3_Missense_Mutation_p.V685M|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2			47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)		GCCCCTGGCCGTGCAGATCAG	0.647000																								0							SO:0001583	missense			ENST00000559717.1	0	1	hg19	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.640000	2.595953	0.463180	0.00182	0.0	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.79247	-1.25;-1.25	5.490000	5.490000	0.811920	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.112697	0.64402	D	0.000012	D	0.83899	0.5354	M	0.81942	2.565	0.807220	D	1.000000	P;P;P	0.41848	0.577;0.763;0.763	B;P;P	0.48901	0.278;0.594;0.594	D	0.83927	0.0304	10	0.41790	T	0.15	-8.4381	15.856600	0.789830	0.0:0.0:0.8639:0.1361	.	193;313;685	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	M	685;193	ENSP00000353655:V685M;ENSP00000388221:V193M	ENSP00000353655:V685M	V	+	1	0	MAN2A2	89255728	1	0.714170	9.590000e-01	0.398830	3.900000e-02	0.134160	4.364000	0.594790	2.622000	0.888050	0.549000	0.686330	GTG		TCGA-IB-AAUM-01A-11D-A377-08	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	0	0	4	235	0	39	0	2.412919e-01	0	45	0	39	2		0	0	0	0	0	2	1	0.885054	4	229	0	38	2		0	0	0	0	39	2	-2.946643	1	1	121412	20	45	1	0	1	1	1.983979	0	0.080000	2.040000	0.069579	0.440000	0.150000	0.930000	1.000000	0.481573	0.440000	0	0.270000	0.680000
ADCY9	115	broad.mit.edu	37	16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9			47					GTGAACTTTGCCGGCCACTCC	0.522000																								0							SO:0001583	missense			ENST00000294016.3	0	1	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	20.600000	4.018606	0.752750	.	.	ENSG00000162104	ENST00000294016	D	0.86562	-2.14	5.390000	5.390000	0.778230	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.78049	2.395	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.94090	0.7352	10	0.72032	D	0.01	.	19.201700	0.937130	0.0:1.0:0.0:0.0	.	527	O60503	ADCY9_HUMAN	D	527	ENSP00000294016:G527D	ENSP00000294016:G527D	G	-	2	0	ADCY9	4103865	1	0.714170	9.950000e-01	0.509660	9.920000e-01	0.810270	7.818000	0.864160	2.552000	0.860800	0.555000	0.697020	GGC		TCGA-IB-AAUM-01A-11D-A377-08	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	0	0	0	5	539	0	129	0	2.249191e-02	0	20	0	129	2		0	0	0	0	0	2	1	0.934392	5	528	0	128	2		0	0	0	0	129	2	-2.130388	0	1	0	0		1	1	2	3	2.010337	0	0.080000	2.040000	0.090190	0.280000	0.090000	1.000000	0.230000	0.413484	0.280000	0	0.170000	1.000000
ITFG1	81533	broad.mit.edu	37	16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1			19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)			GGGACATTGTGAGGGTATGGA	0.373000																								0							SO:0001583	missense			ENST00000320640.6	1	1	hg19	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	17.780000	3.474395	0.637370	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.590000	5.590000	0.848120	.	0.050252	0.85682	D	0.000000	T	0.52948	0.1766	L	0.44542	1.39	0.807220	D	1.000000	P;B	0.35612	0.512;0.225	B;B	0.37047	0.24;0.158	T	0.46247	-0.9205	9	0.16420	T	0.52	-18.2506	19.599200	0.955520	0.0:0.0:1.0:0.0	.	436;549	F5GXC5;Q8TB96	.;TIP_HUMAN	Y	549;209;294;436	.	ENSP00000319918:H549Y	H	-	1	0	ITFG1	45753178	1	0.714170	9.970000e-01	0.539660	9.950000e-01	0.863560	7.229000	0.780880	2.640000	0.895330	0.467000	0.429560	CAC		TCGA-IB-AAUM-01A-11D-A377-08	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	1	0	0	24	429	0	101	1	9.939297e-01	10	135	0	101	2		0	0	0	0	0	2	1	1.000000	24	428	0	101	2		0	0	0	0	101	2	-3.316108	1	1	0	0		1	1	2	3	1.998329	0	0.080000	2.040000	0.087664	0.990000	0.890000	1.000000	1.000000	0.993929	0.990000	1	0.990000	1.000000
PIGQ	9091	broad.mit.edu	37	16	633162	633162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q			13		Hepatocellular(780;0.00335)			CCTGAACACGGCAGGCCCTGC	0.642000																								0							SO:0001583	missense			ENST00000026218.5	0	1	hg19	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.540000	1.379045	0.249440	.	.	ENSG00000007541	ENST00000026218	T	0.25912	1.77	3.180000	-0.830000	0.107920	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.193000	N	0.999972	B;B	0.18013	0.025;0.001	B;B	0.15870	0.014;0.001	T	0.34725	-0.9817	8	.	.	.	0.0578	3.077300	0.062510	0.4718:0.0:0.3279:0.2004	.	174;604	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	D	604	ENSP00000026218:G604D	.	G	+	2	0	PIGQ	573163	0	0.058580	1.020000e-01	0.211980	2.800000e-02	0.117280	-0.042000	0.120630	-0.023000	0.139630	-0.481000	0.048170	GGC		TCGA-IB-AAUM-01A-11D-A377-08	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	0	0	0	5	657	0	138	0	4.413348e-01	0	173	0	138	2		0	0	0	0	0	2	1	0.934447	5	644	0	138	2		0	0	0	0	138	2	-1.963791	0	1	0	0		1	1	2	3	2.010337	0	0.080000	2.040000	0.090190	0.230000	0.080000	1.000000	0.180000	0.375018	0.230000	0	0.140000	1.000000
TP53I13	90313	broad.mit.edu	37	17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13			4					CCCTGTGCCCATCCCTGGCTG	0.577000																								0							SO:0001583	missense			ENST00000301057.7	1	1	hg19	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	A	12.340000	1.907199	0.336280	.	.	ENSG00000167543	ENST00000301057	.	.	.	4.620000	4.620000	0.575010	.	0.078468	0.51477	D	0.000094	T	0.71264	0.3319	M	0.72118	2.19	0.400650	D	0.975940	D	0.71674	0.998	D	0.68943	0.961	T	0.74127	-0.3765	9	0.52906	T	0.07	-16.3851	10.723600	0.460550	1.0:0.0:0.0:0.0	.	74	Q8NBR0	P5I13_HUMAN	L	74	.	ENSP00000301057:H74L	H	+	2	0	TP53I13	24922772	9.850000e-01	0.353260	1	0.803570	9.150000e-01	0.545460	2.593000	0.461800	1.844000	0.535880	0.374000	0.227000	CAT		TCGA-IB-AAUM-01A-11D-A377-08	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	0	0	1	9	278	0	70	1	7.623299e-01	10	76	0	70	2		0	0	0	0	0	2	1	0.993648	9	270	0	69	2		0	0	0	0	70	2	-10.282210	1	1	0	0		1	1	2	3	2.004719	0	0.080000	2.040000	0.089109	0.880000	0.410000	1.000000	1.000000	0.831743	0.880000	1	0.610000	1.000000
RHOT1	55288	broad.mit.edu	37	17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000333942.6	+	11	1080	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000358365.3_Missense_Mutation_p.D281N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1			28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)			TGATGACCTGGATTTGACACC	0.363000																								0							SO:0001583	missense			ENST00000333942.6	0	1	hg19	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	19.010000	3.743488	0.694180	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42131	0.98;0.98;0.98	5.970000	5.970000	0.969550	EF hand associated, type-2 (1);	0.088643	0.85682	D	0.000000	T	0.22166	0.0534	N	0.01352	-0.895	0.807220	D	1.000000	B;B;B;B	0.24317	0.101;0.0;0.0;0.0	B;B;B;B	0.24394	0.053;0.002;0.006;0.002	T	0.18745	-1.0327	10	0.38643	T	0.18	-6.5042	20.413500	0.990230	0.0:0.0:1.0:0.0	.	281;281;281;281	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	281	ENSP00000351132:D281N;ENSP00000378184:D281N;ENSP00000334724:D281N	ENSP00000334724:D281N	D	+	1	0	RHOT1	27545211	1	0.714170	1	0.803570	9.970000e-01	0.918780	9.869000	0.998100	2.835000	0.976880	0.591000	0.815410	GAT		TCGA-IB-AAUM-01A-11D-A377-08	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	0	0	0	21	1713	0	477	0	4.385822e-02	1	25	0	477	2		0	0	0	0	0	2	1	0.999996	22	1664	0	475	2		0	0	0	0	477	2	-3.017764	1	1	0	0		1	1	2	3	2.004719	0	0.080000	2.040000	0.089109	0.320000	0.190000	1.000000	0.310000	0.440418	0.320000	0	0.250000	1.000000
DVL2	1856	broad.mit.edu	37	17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DVL2_ENST00000575458.1_Missense_Mutation_p.R37H|PHF23_ENST00000570753.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2			25					GAGGGTGATGCGCTCGGCGGG	0.602000																								0							SO:0001583	missense			ENST00000005340.5	0	1	hg19	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	27.300000	4.821401	0.908730	.	.	ENSG00000004975	ENST00000005340	T	0.43294	0.95	4.510000	4.510000	0.551910	DIX (3);	0.287347	0.32640	N	0.005840	T	0.51652	0.1687	L	0.53249	1.67	0.361700	D	0.848736	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.60789	0.879;0.703;0.879	T	0.61787	-0.6991	10	0.56958	D	0.05	-13.7627	8.550400	0.334490	0.0:0.8922:0.0:0.1078	.	37;37;37	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	H	37	ENSP00000005340:R37H	ENSP00000005340:R37H	R	-	2	0	DVL2	7078196	1	0.714170	1	0.803570	9.920000e-01	0.810270	3.334000	0.520970	2.055000	0.611980	0.484000	0.476210	CGC		TCGA-IB-AAUM-01A-11D-A377-08	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	0	0	0	6	809	0	147	0	2.621717e-02	0	28	0	147	2		0	0	0	0	0	2	1	0.963820	6	801	0	142	2		0	0	0	0	147	2	-1.929403	0	1	0	0		1	1	2	3	1.998392	0	0.080000	2.040000	0.087664	0.210000	0.080000	1.000000	0.180000	0.337202	0.210000	0	0.130000	0.500000
SMAD4	4089	broad.mit.edu	37	18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000342988.3	+	12	2063	c.1525T>G	c.(1525-1527)Tgg>Ggg	p.W509G	SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TGTGAAAGGCTGGGGACCGGA	0.473000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	17.730000	3.460910	0.635130	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.99113	-5.44;-5.44	6.080000	6.080000	0.989890	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.95539	3.685	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.98200	1.0467	10	0.87932	D	0	.	15.625500	0.768510	0.0:0.0:0.0:1.0	.	509	Q13485	SMAD4_HUMAN	G	509	ENSP00000341551:W509G;ENSP00000381452:W509G	ENSP00000341551:W509G	W	+	1	0	SMAD4	46858701	1	0.714170	1	0.803570	9.960000e-01	0.888480	7.819000	0.866210	2.330000	0.791610	0.533000	0.621200	TGG		TCGA-IB-AAUM-01A-11D-A377-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	20	253	0	56	1	9.830782e-01	15	71	0	56	2	1	1	58	1111	0	898	2	1	0.999995	20	248	0	56	2		0	0	0	0	56	2	-19.999990	1	1	0	0		1	0	0	0	1.895056	1	0.080000	2.040000	0.022109	0.490000	0.400000	1.000000	0.510000	0.520576	0.490000	0	0.450000	0.520000
TSHZ1	10194	broad.mit.edu	37	18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000580243.1	+	2	1559	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Y359C			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			GGCGCCAGCTACACCTGGCAG	0.612000																								0							SO:0001583	missense			ENST00000580243.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.700000	1.424041	0.256390	.	.	ENSG00000179981	ENST00000322038	T	0.20463	2.07	5.120000	5.120000	0.697940	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.74647	2.275	0.452160	D	0.998227	D	0.89917	1.0	D	0.85130	0.997	T	0.49570	-0.8926	10	0.87932	D	0	-30.001	14.940200	0.709890	1.0:0.0:0.0:0.0	.	404	Q6ZSZ6	TSH1_HUMAN	C	359	ENSP00000323584:Y359C	ENSP00000323584:Y359C	Y	+	2	0	TSHZ1	71127561	1	0.714170	1	0.803570	9.010000e-01	0.528970	8.794000	0.918670	2.371000	0.807100	0.561000	0.740990	TAC		TCGA-IB-AAUM-01A-11D-A377-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	0	4	197	0	39	0	4.421781e-02	0	13	0	39	2		0	0	0	0	0	2	1	0.890045	4	196	0	39	2		0	0	0	0	39	2	-6.245539	1	1	0	0		1	0	0	0	1.895056	1	0.080000	2.040000	0.022109	0.350000	0.130000	0.510000	0.400000	0.354990	0.350000	0	0.230000	0.470000
KRI1	65095	broad.mit.edu	37	19	10671101	10671101	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000361821.5_Silent_p.N231N|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)			26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		ACTCAGGGTCGTTCCAGTATT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000312962.6	1	1	hg19	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	9.792000	1.178289	0.217870	.	.	ENSG00000129347	ENST00000543682	.	.	.	5.360000	3.240000	0.371750	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	-58.2916	7.286200	0.263400	0.3358:0.0:0.6642:0.0	.	.	.	.	M	173	.	.	T	-	2	0	KRI1	10532101	1.440000e-01	0.226410	9.930000e-01	0.491080	9.250000e-01	0.559040	0.275000	0.186980	0.652000	0.308060	0.563000	0.778840	ACG		TCGA-IB-AAUM-01A-11D-A377-08	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	0	0	0	39	492	1	98	1	6.788818e-01	7	55	1	98	4		0	0	0	0	0	2	1	0.998288	37	481	1	96	18		0	0	0	1	98	2	-9.896644	1	1	121412	3	35	1	1	2	3	2.007831	0	0.080000	2.040000	0.089830	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	0.990000	1.000000
ZNF781	163115	broad.mit.edu	37	19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000590008.1	-	5	1734	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.L294F|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781			24					GGACAGGAGACAAAAACCTTC	0.383000																								0							SO:0001583	missense			ENST00000590008.1	1	1	hg19	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	8.075000	0.771033	0.160510	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.06142	3.34	2.070000	-4.150000	0.038810	.	.	.	.	.	T	0.03305	0.0096	L	0.35341	1.055	0.093100	N	1.000000	B	0.14805	0.011	B	0.13407	0.009	T	0.48305	-0.9047	9	0.02654	T	1	-0.7011	4.050700	0.097930	0.4516:0.3457:0.0:0.2027	.	294	Q8N8C0	ZN781_HUMAN	F	294	ENSP00000351391:L294F	ENSP00000351391:L294F	L	-	3	2	ZNF781	42852008	0	0.058580	0	0.037020	0	0.004340	-1.780000	0.017750	-1.890000	0.011110	-1.760000	0.006710	TTG		TCGA-IB-AAUM-01A-11D-A377-08	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	0	0	0	25	422	0	145	0	0	0	1	0	145	2	0	0	1	0	0	0	2	1	1.000000	25	419	0	143	2		0	0	0	0	145	2	-20.000000	1	1	121410	1	34	1	1	2	3	2.007831	0	0.080000	2.040000	0.089830	0.990000	0.960000	1.000000	1.000000	0.997019	0.990000	1	0.990000	1.000000
IZUMO1	284359	broad.mit.edu	37	19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1			17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)			TCTGTGATGCGTTTCAGATCC	0.507000																								0							SO:0001583	missense			ENST00000332955.2	1	1	hg19	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	20.200000	3.951427	0.737870	.	.	ENSG00000182264	ENST00000332955	T	0.25749	1.78	5.100000	2.880000	0.335530	.	0.237333	0.30101	N	0.010409	T	0.42720	0.1215	L	0.59436	1.845	0.393810	D	0.966252	D	0.89917	1.0	D	0.97110	1.0	T	0.33727	-0.9857	10	0.87932	D	0	-9.5316	8.523600	0.332910	0.0:0.1681:0.6575:0.1744	.	96	Q8IYV9	IZUM1_HUMAN	C	96	ENSP00000327786:R96C	ENSP00000327786:R96C	R	-	1	0	IZUMO1	53940307	9.940000e-01	0.377170	9.960000e-01	0.522420	9.940000e-01	0.842990	2.965000	0.492000	0.624000	0.302860	0.491000	0.489740	CGC		TCGA-IB-AAUM-01A-11D-A377-08	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	1	0	0	13	284	0	51	0	6.774520e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.999564	13	284	0	50	2		0	0	0	0	51	2	-3.221883	1	1	0	0		1	1	2	3	2.016145	0	0.080000	2.040000	0.091627	0.990000	0.650000	1.000000	1.000000	0.956904	0.990000	1	0.880000	1.000000
ZNF544	27300	broad.mit.edu	37	19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000596652.1	+	6	2243	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.S670*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544			18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			AAAGCCTTTTCAGGGAGCTCT	0.453000																								0							SO:0001587	stop_gained			ENST00000596652.1	0	1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	37.000000	6.545208	0.976540	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	.	.	.	2.940000	-1.630000	0.083450	.	.	.	.	.	.	.	.	.	.	.	0.188730	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.056500	0.306080	0.1591:0.4408:0.4:0.0	.	.	.	.	X	670;642;222	.	ENSP00000269829:S670X	S	+	2	0	ZNF544	63465793	0	0.058580	0	0.037020	3.920000e-01	0.305060	-2.916000	0.006960	-0.330000	0.085140	0.563000	0.778840	TCA		TCGA-IB-AAUM-01A-11D-A377-08	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	0	0	0	10	692	0	237	1	4.828061e-02	2	20	0	237	2		0	0	0	0	0	2	1	0.996745	9	686	0	237	2		0	0	0	0	237	2	-3.078061	1	1	0	0		1	1	2	3	2.012541	0	0.080000	2.040000	0.090909	0.410000	0.190000	1.000000	0.350000	0.513031	0.410000	0	0.280000	1.000000
AMPD1	270	broad.mit.edu	37	1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000520113.2	-	13	1908	c.1893A>T	c.(1891-1893)ttA>ttT	p.L631F	AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F|AMPD1_ENST00000369538.3_Missense_Mutation_p.L627F			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	p.L598F(2)|p.L631F(1)		45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Adenosine monophosphate(DB00131)	TCACCTTTTTTAAATTTAGGC	0.418000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000520113.2	1	1	hg19	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	18.120000	3.552218	0.653110	2.27E-4	0.0	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.88046	-2.33;-2.33;-2.33	5.990000	3.680000	0.422160	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	H	0.95224	3.64	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92592	0.6084	10	0.87932	D	0	-11.4622	6.261100	0.209010	0.0:0.2024:0.1353:0.6624	.	627;598	Q5TF02;P23109	.;AMPD1_HUMAN	F	631;627;598	ENSP00000430075:L631F;ENSP00000358551:L627F;ENSP00000316520:L598F	ENSP00000316520:L598F	L	-	3	2	AMPD1	115018902	1	0.714170	1	0.803570	7.700000e-01	0.436240	0.599000	0.240890	1.100000	0.415170	0.533000	0.621200	TTA		TCGA-IB-AAUM-01A-11D-A377-08	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4	0	0	0	10	310	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.997000	10	310	0	69	2		0	0	0	0	69	2	-10.785210	1	1	121412	19	46	1	0	1	1	1.983845	0	0.080000	2.040000	0.069579	0.770000	0.400000	1.000000	1.000000	0.776424	0.770000	0	0.560000	1.000000
FLG	2312	broad.mit.edu	37	1	152282688	152282688	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GGTGACGTGACCCTGAGTGCC	0.592000									Ichthyosis															0							SO:0001819	synonymous_variant	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	60	1268	0	365		0	0	0	0	365	2		0	0	0	0	0	2	1	1.000000	58	1241	0	364	2		0	0	0	0	365	2	-6.047627	1	1	0	0		1	1	3	4	2.186804	1	0.080000	2.040000	0.148148	0.990000	0.940000	1.000000	1.000000	0.996667	0.990000	1	0.990000	1.000000
SNRPE	6635	broad.mit.edu	37	1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'Flank	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E			5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)		CTTCAGATACTTACAAAATGT	0.403000													Ovarian(83;324 1318 17952 32395 39614)											0							SO:0001583	missense			ENST00000414487.2	1	1	hg19	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	T	24.200000	4.501065	0.851760	.	.	ENSG00000182004	ENST00000414487	T	0.59772	0.24	5.250000	1.230000	0.212490	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.64402	D	0.000001	T	0.68044	0.2958	.	.	.	0.807220	D	1.000000	D	0.63880	0.993	D	0.64506	0.926	T	0.66917	-0.5802	9	0.87932	D	0	.	6.643600	0.229230	0.0:0.5457:0.0:0.4543	.	25	P62304	RUXE_HUMAN	I	25	ENSP00000400591:L25I	ENSP00000400591:L25I	L	+	1	2	SNRPE	202097965	1	0.714170	1	0.803570	9.900000e-01	0.784780	1.606000	0.368260	0.394000	0.252300	0.402000	0.269720	TTA		TCGA-IB-AAUM-01A-11D-A377-08	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	0	0	0	14	358	0	80	1	9.946299e-01	22	201	0	80	2		0	0	0	0	0	2	1	0.999758	13	357	0	80	2		0	0	0	0	80	2	-3.725384	1	1	0	0		1	1	4	5	2.190197	1	0.080000	2.040000	0.162418	0.990000	0.620000	1.000000	1.000000	0.940842	0.990000	1	0.830000	1.000000
LPHN2	23266	broad.mit.edu	37	1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N			O95490	LPHN2_HUMAN	latrophilin 2			119					GGCAATTGTTGACACAGTGGA	0.358000																								0							SO:0001583	missense			ENST00000370728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.100000	3.761933	0.697630	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.620000	5.620000	0.858410	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.60455	1.87	0.807220	D	1.000000	P;D;D	0.71674	0.837;0.998;0.969	P;D;P	0.65987	0.535;0.94;0.709	T	0.00394	-1.1767	10	0.45353	T	0.12	.	19.654800	0.958320	0.0:0.0:1.0:0.0	.	598;598;598	O95490-3;O95490-4;O95490-2	.;.;.	N	536;611;611;611;611;598;598;598;598;598;611;598;611;611	ENSP00000359756:D536N;ENSP00000359763:D611N;ENSP00000359765:D611N;ENSP00000359762:D611N;ENSP00000359760:D611N;ENSP00000359758:D598N;ENSP00000353006:D598N;ENSP00000359750:D598N;ENSP00000359748:D598N;ENSP00000322270:D598N;ENSP00000359752:D611N;ENSP00000378344:D598N;ENSP00000271029:D611N;ENSP00000337306:D611N	ENSP00000271029:D611N	D	+	1	0	LPHN2	82194158	1	0.714170	1	0.803570	9.740000e-01	0.676020	9.476000	0.978230	2.648000	0.898790	0.467000	0.429560	GAC		TCGA-IB-AAUM-01A-11D-A377-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	0	20	321	0	105	0	4.704669e-01	0	26	0	105	2		0	0	0	0	0	2	1	0.999995	20	315	0	105	2		0	0	0	0	105	2	-3.222668	1	1	0	0		1	0	1	1	1.974596	0	0.080000	2.040000	0.067315	0.990000	0.880000	1.000000	1.000000	0.993056	0.990000	1	0.990000	1.000000
JAM2	58494	broad.mit.edu	37	21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L|JAM2_ENST00000312957.5_Missense_Mutation_p.R95L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2			19					TTCAATATCCGGATCAAAAAT	0.378000																								0							SO:0001583	missense			ENST00000480456.1	1	1	hg19	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	19.310000	3.802133	0.706820	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.560000	5.560000	0.838230	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122923	0.52532	D	0.000074	T	0.69115	0.3075	L	0.47716	1.5	0.360130	D	0.838181	D;D;D;D;D	0.64830	0.983;0.994;0.994;0.992;0.987	P;D;D;P;P	0.65233	0.866;0.933;0.933;0.9;0.9	T	0.73078	-0.4096	10	0.44086	T	0.13	.	10.280800	0.435390	0.0869:0.0:0.9131:0.0	.	59;95;95;95;95	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	L	95;95;95;95;95;59	ENSP00000420419:R95L;ENSP00000383376:R95L;ENSP00000318416:R95L;ENSP00000392611:R59L	ENSP00000318416:R95L	R	+	2	0	JAM2	25987981	9.780000e-01	0.343610	1	0.803570	8.700000e-01	0.499360	4.018000	0.571740	2.890000	0.991280	0.655000	0.942530	CGG		TCGA-IB-AAUM-01A-11D-A377-08	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1	1	0	0	9	230	0	66	0	4.709052e-01	0	39	0	66	2		0	0	0	0	0	2	1	0.994256	9	228	0	66	2		0	0	0	0	66	2	-2.725326	1	1	0	0		1	0	1	1	1.980546	0	0.080000	2.040000	0.068826	0.920000	0.460000	1.000000	1.000000	0.863201	0.920000	1	0.660000	1.000000
HMGXB4	10042	broad.mit.edu	37	22	35660888	35660888	+	Silent	SNP	G	G	A	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4			19					CCCACAAATCGAAAAAAATGA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000216106.5	1	1	hg19	CCDS33641.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	0	0	0	16	411	0	133	1	1.197135e-01	2	13	0	133	2		0	0	0	0	0	2	1	0.999926	16	403	0	133	2		0	0	0	0	133	2	-3.073026	1	1	121412	3	37	1	0	1	1	1.992321	0	0.080000	2.040000	0.071832	0.920000	0.550000	1.000000	1.000000	0.883516	0.920000	1	0.720000	1.000000
ZAP70	7535	broad.mit.edu	37	2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					CACACTCCCAGCCCACCCATC	0.706000																								0							SO:0001583	missense			ENST00000264972.5	0	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	10.980000	1.504992	0.269490	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72615	-0.67;-0.67	5.360000	4.470000	0.543850	.	0.582850	0.15303	N	0.269546	T	0.55130	0.1901	N	0.21448	0.665	0.342490	D	0.678521	B;B	0.13145	0.007;0.003	B;B	0.17433	0.018;0.002	T	0.58222	-0.7674	10	0.23891	T	0.37	.	10.219200	0.431880	0.0926:0.0:0.9074:0.0	.	146;272	P43403-3;P43403	.;ZAP70_HUMAN	T	272;146	ENSP00000264972:A272T;ENSP00000411141:A146T	ENSP00000264972:A272T	A	+	1	0	ZAP70	97716215	9.520000e-01	0.324450	9.970000e-01	0.539660	4.870000e-01	0.333710	2.503000	0.454070	1.384000	0.464240	0.655000	0.942530	GCC		TCGA-IB-AAUM-01A-11D-A377-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0	9	113	0	19	0	1.916094e-01	0	10	0	19	2		0	0	0	0	0	2	1	0.994152	9	110	0	19	2		0	0	0	0	19	2	-13.692320	1	1	0	0		1	1	2	3	2.005760	0	0.080000	2.040000	0.089109	0.990000	0.920000	1.000000	1.000000	0.994581	0.990000	1	0.990000	1.000000
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80			51					TCTGGGCAGCGCATCCCCAGT	0.473000																								0							SO:0001583	missense			ENST00000206423.3	0	1	hg19	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	20.500000	4.003686	0.749320	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.52754	0.65;0.65;0.81	5.830000	4.870000	0.633300	.	0.099290	0.64402	D	0.000001	T	0.56978	0.2022	L	0.27053	0.805	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.61038	-0.7143	10	0.87932	D	0	-11.0485	16.814200	0.857290	0.0:0.0:0.8076:0.1924	.	923;912	Q76M96-2;Q76M96	.;CCD80_HUMAN	C	912;912;513;190	ENSP00000206423:R912C;ENSP00000411814:R912C;ENSP00000418188:R190C	ENSP00000206423:R912C	R	-	1	0	CCDC80	113807073	1	0.714170	1	0.803570	9.980000e-01	0.957120	5.439000	0.665560	2.753000	0.944830	0.585000	0.799380	CGC		TCGA-IB-AAUM-01A-11D-A377-08	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	0	0	0	5	281	1	81	0	5.793511e-02	0	414	1	81	17		0	0	0	0	0	2	0	0.042690	5	278	1	81	13		0	0	0	1	81	2	-2.608490	1	1	121412	1	36	1	0	1	1	1.987942	0	0.080000	2.040000	0.070707	0.450000	0.170000	0.900000	0.420000	0.490193	0.450000	0	0.290000	0.680000
CNTN6	27255	broad.mit.edu	37	3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D			Q9UQ52	CNTN6_HUMAN	contactin 6	p.G678D(1)		90		all_cancers(2;0.000164)|all_epithelial(2;0.107)			GTTGTTGCCGGCAACAGCATT	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000446702.2	0	1	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.440000	2.535149	0.450730	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56776	0.44;0.44;0.44	4.840000	3.890000	0.449020	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107766	0.41823	D	0.000811	T	0.50017	0.1591	L	0.29908	0.895	0.193000	N	0.999973	D	0.54772	0.968	P	0.54629	0.757	T	0.36432	-0.9748	10	0.42905	T	0.14	.	10.048500	0.422010	0.0:0.1484:0.6981:0.1535	.	678	Q9UQ52	CNTN6_HUMAN	D	678;606;678	ENSP00000407822:G678D;ENSP00000442791:G606D;ENSP00000341882:G678D	ENSP00000341882:G678D	G	+	2	0	CNTN6	1390695	9.380000e-01	0.318260	9.990000e-01	0.593770	9.850000e-01	0.738300	2.160000	0.423480	2.379000	0.811260	0.655000	0.942530	GGC		TCGA-IB-AAUM-01A-11D-A377-08	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	0	0	0	5	385	0	94		0	0	0	0	94	2		0	0	0	0	0	2	0	0.017065	5	377	1	94	15		0	0	0	0	94	2	-2.718292	1	1	121412	1	28	1	0	1	1	1.992217	0	0.080000	2.040000	0.071832	0.340000	0.120000	0.680000	0.310000	0.366685	0.340000	0	0.210000	0.500000
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					TTCCGAAGACCGTCCTGGATG	0.602000																								0							SO:0001583	missense			ENST00000340369.3	1	1	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.886000	-0.456684	0.045400	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05580	3.42;3.74	4.720000	0.745000	0.183590	.	7.244150	0.01698	U	0.027049	T	0.06050	0.0157	L	0.47716	1.5	0.093100	N	1.000000	B;B	0.24882	0.113;0.062	B;B	0.13407	0.004;0.009	T	0.37709	-0.9694	10	0.09084	T	0.74	.	3.123000	0.063970	0.1423:0.557:0.1381:0.1626	.	1092;1092	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	1092	ENSP00000379550:G1092S;ENSP00000343140:G1092S	ENSP00000343140:G1092S	G	-	1	0	XIRP1	39202667	0	0.058580	0	0.037020	1.110000e-01	0.196430	0.016000	0.133770	0.030000	0.153790	0.650000	0.862430	GGT		TCGA-IB-AAUM-01A-11D-A377-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	0	0	0	14	332	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.999749	14	328	0	71	2		0	0	0	0	73	2	-2.985372	1	1	121412	1	28	1	0	1	1	1.992217	0	0.080000	2.040000	0.071832	0.990000	0.570000	1.000000	1.000000	0.911982	0.990000	1	0.760000	1.000000
PI16	221476	broad.mit.edu	37	6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	p.V284I(2)		30					TCCACCTTGCGTAACAACTGA	0.567000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000373674.3	1	1	hg19	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	10.020000	1.235618	0.226260	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.06933	3.24	5.800000	-7.550000	0.013270	.	1.505140	0.04117	N	0.315674	T	0.00875	0.0029	N	0.08118	0	0.093100	N	0.999999	B	0.30211	0.273	B	0.17722	0.019	T	0.41052	-0.9530	10	0.66056	D	0.02	.	1.694900	0.028590	0.1826:0.2985:0.3241:0.1948	.	284	Q6UXB8	PI16_HUMAN	I	284;136	ENSP00000362778:V284I	ENSP00000362778:V284I	V	+	1	0	PI16	37038946	0	0.058580	0	0.037020	8.000000e-03	0.064300	-0.569000	0.059020	-1.245000	0.025130	-0.127000	0.149210	GTA		TCGA-IB-AAUM-01A-11D-A377-08	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	1	0	0	24	286	0	85	0	2.198886e-01	0	11	0	85	2		0	0	0	0	0	2	1	1.000000	24	285	0	83	2		0	0	0	0	85	2	-3.318783	1	1	121412	5	46	1	0	1	1	1.986508	0	0.080000	2.040000	0.070331	0.990000	0.990000	1.000000	1.000000	0.999701	0.990000	1	0.990000	1.000000
RPP40	10799	broad.mit.edu	37	6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000380051.2	-	1	58	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000464646.1_5'Flank|RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit			14	Ovarian(93;0.11)	all_hematologic(90;0.0895)			CCGAAGCCGGCGCAGCGTGGC	0.697000											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000380051.2	1	1	hg19	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	15.950000	2.984604	0.539340	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.51071	0.81;0.72	4.530000	4.530000	0.556030	.	0.509013	0.19657	N	0.109065	T	0.41026	0.1141	L	0.37630	1.12	0.807220	D	1.000000	D;P	0.53885	0.963;0.938	P;B	0.52454	0.699;0.422	T	0.36016	-0.9765	10	0.52906	T	0.07	-11.2996	16.002400	0.803060	0.0:1.0:0.0:0.0	.	5;5	O75818-2;O75818	.;RPP40_HUMAN	P	5	ENSP00000369391:R5P;ENSP00000317998:R5P	ENSP00000317998:R5P	R	-	2	0	RPP40	4949222	8.460000e-01	0.295900	8.900000e-02	0.207740	9.000000e-03	0.068530	1.435000	0.349690	2.338000	0.795400	0.557000	0.710580	CGC		TCGA-IB-AAUM-01A-11D-A377-08	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	1	0	0	16	214	0	31	1	1.397310e-01	3	6	0	31	2		0	0	0	0	0	2	1	0.999934	16	210	0	29	2		0	0	0	0	31	2	-3.221823	1	1	0	0		1	0	1	1	1.979522	0	0.080000	2.040000	0.068826	0.990000	0.940000	1.000000	1.000000	0.996132	0.990000	1	0.990000	1.000000
KEL	3792	broad.mit.edu	37	7	142641797	142641797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:142641797G>A	ENST00000355265.2	-	12	1820	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase			60	Melanoma(164;0.059)				AGTGATGAGGGCATCCCGGAT	0.617000																								0							SO:0001583	missense			ENST00000355265.2	0	1	hg19	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.470000	1.648408	0.293360	.	.	ENSG00000197993	ENST00000355265	T	0.78924	-1.22	4.870000	3.990000	0.463010	Peptidase M13 (1);	0.518330	0.17628	N	0.167488	T	0.75162	0.3812	M	0.76328	2.33	0.296590	N	0.843357	P	0.38617	0.64	B	0.38616	0.277	T	0.71137	-0.4680	10	0.34782	T	0.22	-7.2386	8.948600	0.357730	0.1008:0.0:0.8992:0.0	.	449	P23276	KELL_HUMAN	V	449	ENSP00000347409:A449V	ENSP00000347409:A449V	A	-	2	0	KEL	142351919	7.210000e-01	0.280070	7.000000e-01	0.303050	4.200000e-02	0.138120	3.694000	0.547420	1.297000	0.447610	-0.373000	0.071310	GCC		TCGA-IB-AAUM-01A-11D-A377-08	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	0	0	0	4	196	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.883926	4	190	0	45	2		0	0	0	0	45	2	-3.218095	1	1	0	0		1	1	2	3	2.014320	0	0.080000	2.040000	0.091268	0.640000	0.200000	1.000000	1.000000	0.668295	0.640000	0	0.360000	1.000000
PDE1C	5137	broad.mit.edu	37	7	31793127	31793127	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:31793127G>A	ENST00000396191.1	-	18	2456	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	PDE1C_ENST00000396193.1_Silent_p.Y727Y|PDE1C_ENST00000321453.7_Silent_p.Y667Y	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa			81			GBM - Glioblastoma multiforme(11;0.216)	Caffeine(DB00201)	AGCTAGATGCGTAAGCAGGGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000396191.1	0	1	hg19	CCDS55099.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1	0	0	0	5	375	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	0.936628	5	372	0	132	2		0	0	0	0	132	2	-2.550590	1	1	116166	15	44	1	1	2	3	2.002752	0	0.080000	2.040000	0.088387	0.400000	0.140000	1.000000	0.320000	0.489206	0.400000	0	0.240000	1.000000
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	p.T145T(1)		46		Lung NSC(55;0.0846)|all_lung(88;0.183)			GCCTACCAACTGAAAGTGCAG	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000359626.5	0	1	hg19	CCDS5538.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	0	0	0	6	609	0	148	0	2.134904e-02	0	19	0	148	2		0	0	0	0	0	2	1	0.962914	6	597	0	148	2		0	0	0	0	148	2	-1.819237	0	1	121412	80	43	1	1	2	3	2.004904	0	0.080000	2.040000	0.089109	0.290000	0.110000	1.000000	0.250000	0.410555	0.290000	0	0.180000	1.000000
AZGP1	563	broad.mit.edu	37	7	99565782	99565782	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000292401.4	-	3	745	c.609G>A	c.(607-609)cgG>cgA	p.R203R	AZGP1_ENST00000411734.1_Silent_p.R200R|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding			16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				GAGTACCTTGCCGGTCCAGGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000292401.4	0	1	hg19	CCDS5680.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	0	0	0	5	279	0	83	0	9.996924e-01	1	1173	0	83	2		0	0	0	0	0	2	1	0.937504	5	278	0	81	2		0	0	0	0	83	2	-2.624971	1	1	121412	3	35	1	1	2	3	2.004904	0	0.080000	2.040000	0.089109	0.530000	0.190000	1.000000	1.000000	0.596286	0.530000	0	0.320000	1.000000
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		GTGGGTCATGCGCGTCTCGGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000377838.3	0	1	hg19	CCDS47924.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	0	0	5	383	0	89	0	2.643777e-03	0	5	0	89	2		0	0	0	0	0	2	1	0.937076	6	380	0	88	2		0	0	0	0	89	2	-2.073560	0	1	121082	2	34	1	1	2	3	1.999017	0	0.080000	2.040000	0.087664	0.380000	0.130000	1.000000	0.320000	0.475467	0.380000	0	0.230000	0.930000
RB1CC1	9821	broad.mit.edu	37	8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1			60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)			CTCAAGCAAACGAGCTCGATC	0.358000													GBM(180;1701 2102 13475 42023 52570)											0							SO:0001583	missense			ENST00000025008.5	1	1	hg19	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	27.400000	4.831119	0.910360	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15487	2.42;2.42;2.42	5.610000	5.610000	0.854770	.	0.053357	0.85682	D	0.000000	T	0.30823	0.0777	L	0.32530	0.975	0.441040	D	0.996878	D;D	0.76494	0.999;0.998	P;P	0.61592	0.891;0.781	T	0.01460	-1.1349	10	0.72032	D	0.01	-13.615	18.620100	0.913180	0.0:1.0:0.0:0.0	.	1377;1377	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	1377	ENSP00000025008:R1377H;ENSP00000396067:R1377H;ENSP00000445960:R1377H	ENSP00000025008:R1377H	R	-	2	0	RB1CC1	53717671	9.980000e-01	0.408360	9.940000e-01	0.499520	9.980000e-01	0.957120	3.761000	0.552420	2.632000	0.892090	0.655000	0.942530	CGT		TCGA-IB-AAUM-01A-11D-A377-08	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	0	16	344	0	121	1	5.132124e-01	2	35	0	121	2		0	0	0	0	0	2	1	0.999933	16	341	0	119	2		0	0	0	0	121	2	-16.928200	1	1	121404	6	37	1	1	2	3	1.999017	0	0.080000	2.040000	0.087664	0.990000	0.680000	1.000000	1.000000	0.962232	0.990000	1	0.900000	1.000000
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	GCCCAGGACGCGCCTGGGGAA	0.542000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.800000	4.048690	0.758460	.	.	ENSG00000182674	ENST00000523207	T	0.78481	-1.18	5.710000	4.840000	0.625910	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.90703	0.7083	H	0.95950	3.745	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.91904	0.5534	9	0.87932	D	0	.	9.681300	0.400720	0.1398:0.7897:0.0:0.0705	.	60	Q92953	KCNB2_HUMAN	C	60	ENSP00000430846:R60C	ENSP00000430846:R60C	R	+	1	0	KCNB2	73642701	9.960000e-01	0.388240	6.350000e-01	0.293380	9.850000e-01	0.738300	3.471000	0.531070	1.432000	0.473750	0.655000	0.942530	CGC		TCGA-IB-AAUM-01A-11D-A377-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	0	21	376	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.999997	21	369	0	104	2		0	0	0	0	104	2	-3.077950	1	1	0	0		1	1	2	3	1.999017	0	0.080000	2.040000	0.087664	0.990000	0.870000	1.000000	1.000000	0.992103	0.990000	1	0.990000	1.000000
MPDZ	8777	broad.mit.edu	37	9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein			61					ACCCATTTCGGCAAAGGCTGA	0.493000																								0							SO:0001583	missense			ENST00000319217.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.050000	1.244722	0.227960	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.45276	2.88;2.83;2.83;2.71;2.73;2.74;2.78;2.88;2.88;0.9	5.900000	3.990000	0.463010	.	0.701509	0.12341	N	0.477536	T	0.33614	0.0869	L	0.29908	0.895	0.255140	N	0.987437	B;B;B;B;B	0.28055	0.126;0.019;0.199;0.126;0.199	B;B;B;B;B	0.33620	0.055;0.028;0.167;0.08;0.117	T	0.27806	-1.0063	10	0.28530	T	0.3	.	10.109300	0.425520	0.0648:0.0:0.6902:0.245	.	1273;165;1273;1186;1306	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	V	1306;1306;1306;242;165;1273;1273;1306;1186;1320;128	ENSP00000320006:A1306V;ENSP00000439807:A1306V;ENSP00000370410:A1306V;ENSP00000444230:A242V;ENSP00000444717:A165V;ENSP00000444151:A1273V;ENSP00000415208:A1273V;ENSP00000370403:A1306V;ENSP00000446358:A1320V;ENSP00000389705:A128V	ENSP00000320006:A1306V	A	-	2	0	MPDZ	13130072	9.940000e-01	0.377170	2.390000e-01	0.241220	7.080000e-01	0.408520	1.599000	0.367510	0.765000	0.332210	0.552000	0.689910	GCC		TCGA-IB-AAUM-01A-11D-A377-08	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	0	0	0	6	602	0	133	0	8.995884e-03	0	12	0	133	2		0	0	0	0	0	2	1	0.963649	6	594	0	130	2		0	0	0	0	133	2	-1.966308	0	1	0	0		1	0	1	1	1.992647	0	0.080000	2.040000	0.071832	0.250000	0.100000	0.490000	0.240000	0.278327	0.250000	0	0.170000	0.380000
DOLK	22845	broad.mit.edu	37	9	131708515	131708515	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase			11					AGAGCAGTGGCCGGTCAAAGA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000372586.3	0	1	hg19	CCDS6915.1																																																																																				TCGA-IB-AAUM-01A-11D-A377-08	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	0	0	0	8	720	0	126	0	6.586118e-02	0	33	0	126	2		0	0	0	0	0	2	1	0.988665	7	709	0	118	2		0	0	0	0	126	2	-2.239572	0	1	121412	1	30	1	0	1	1	1.992647	0	0.080000	2.040000	0.071832	0.280000	0.130000	0.500000	0.270000	0.300092	0.280000	0	0.190000	0.390000
