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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TERF1	7013	broad.mit.edu	37	8	73951377	73951377	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:73951377A>G	ENST00000276602.6	+	8	1029	c.1006A>G	c.(1006-1008)Aga>Gga	p.R336G	TERF1_ENST00000276603.5_Missense_Mutation_p.R356G	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	356	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGAAAGCAGAAGAGCCACTGA	0.289000													11	13					0	0	0.010729	0	0
MAEA	10296	broad.mit.edu	37	4	1305800	1305800	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr4:1305800G>A	ENST00000303400.4	+	2	166	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	MAEA_ENST00000514708.1_Missense_Mutation_p.A35T|MAEA_ENST00000510794.1_Missense_Mutation_p.A34T|MAEA_ENST00000452175.2_Missense_Mutation_p.A24T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.A35T|MAEA_ENST00000264750.6_Missense_Mutation_p.A35T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	35	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ACGCTTTCGCGCCGCTCAGAA	0.642000													23	0					0	0	0.021523	0	0
TELO2	9894	broad.mit.edu	37	16	1545620	1545620	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:1545620C>T	ENST00000262319.6	+	3	888	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	203						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGACTCTCTCCAAGGTGAGG	0.657000													12	15					0	0	0.010729	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613352	175613352	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:175613352T>C	ENST00000348749.5	-	8	1275	c.1198A>G	c.(1198-1200)Aag>Gag	p.K400E	CHRNA1_ENST00000409542.1_Missense_Mutation_p.K318E|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.K425E|CHRNA1_ENST00000409219.1_Intron	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	425					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCGATGTACTTGATGCCCTCG	0.488000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	180					0	0	0.004672	0	0
TBX15	6913	broad.mit.edu	37	1	119441651	119441651	+	Splice_Site	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:119441651C>A	ENST00000369429.3	-	7	1033	c.1024_splice	c.e7+1	p.G342_splice	TBX15_ENST00000207157.3_Splice_Site_p.G236_splice			Q96SF7	TBX15_HUMAN	T-box 15	342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGGCTTTACCTTGCTGCTTC	0.532000													22	170					2.48779e-11	3.09352e-11	0.005443	1	0
DDX21	9188	broad.mit.edu	37	10	70728878	70728878	+	Splice_Site	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr10:70728878G>T	ENST00000354185.4	+	7	1334		c.e7+1			NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21							nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACTGTGGAGGTAAATTATTT	0.308000													9	40					2.52707e-12	3.19797e-12	0.006214	1	0
MROH7	374977	broad.mit.edu	37	1	55167778	55167778	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:55167778C>T	ENST00000414150.2	+	20	3579	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	MROH7_ENST00000454855.2_Missense_Mutation_p.R619C|MROH7_ENST00000421030.2_Missense_Mutation_p.R1101C|MROH7_ENST00000409996.1_Missense_Mutation_p.R669C					maestro heat-like repeat family member 7																		AGAGGTCGTGCGCTCCTCCTG	0.617000													34	14					0	0	0.009718	0	0
AKAP6	9472	broad.mit.edu	37	14	33291463	33291463	+	Missense_Mutation	SNP	A	A	T	rs111260630		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:33291463A>T	ENST00000280979.4	+	13	4614	c.4444A>T	c.(4444-4446)Atg>Ttg	p.M1482L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1482					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAATTACCAATGATAATGAA	0.363000													5	155					0	0	0.014758	0	0
ZNF831	128611	broad.mit.edu	37	20	57768130	57768130	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr20:57768130G>T	ENST00000371030.2	+	1	2056	c.2056G>T	c.(2056-2058)Gca>Tca	p.A686S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	686						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACATATCCGCAGGGGCAAC	0.617000													5	12					8.12818e-05	9.22484e-05	0.001984	1	0
CEP97	79598	broad.mit.edu	37	3	101476955	101476955	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:101476955C>A	ENST00000341893.3	+	9	2257	c.1505C>A	c.(1504-1506)aCa>aAa	p.T502K	CEP97_ENST00000327230.4_Missense_Mutation_p.T502K|CEP97_ENST00000494050.1_Missense_Mutation_p.T443K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	502	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CACAGTCTTACATTTTTTCCT	0.363000													5	143					0.014758	0.0162338	0.014758	1	0
IGHV3-48	28424	broad.mit.edu	37	14	106993916	106993916	+	RNA	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:106993916C>T	ENST00000390624.2	-	0	327																											ATCGGCCCTTCACAGAGTCTG	0.502000													29	601					0	0	0.007835	0	0
DDX27	55661	broad.mit.edu	37	20	47838010	47838010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr20:47838010C>T	ENST00000371764.4	+	2	217	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	70	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTGGGCAGACGACAAAAAGC	0.532000													10	30					0	0	0.010729	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307916	92307916	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:92307916G>C	ENST00000276609.3	+	4	701	c.462G>C	c.(460-462)ttG>ttC	p.L154F	SLC26A7_ENST00000523719.1_Missense_Mutation_p.L154F|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L154F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	154						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTTCCTTCTTGGGAGGTGTGA	0.463000													33	74					0	0	0.009535	0	0
DNAH10	196385	broad.mit.edu	37	12	124408974	124408974	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr12:124408974C>A	ENST00000409039.3	+	66	11432	c.11407C>A	c.(11407-11409)Cag>Aag	p.Q3803K	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3803					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTGTCTGGCAGGAGGTGAG	0.468000													8	5					7.48243e-07	8.91656e-07	0.006214	1	0
AHNAK	79026	broad.mit.edu	37	11	62287885	62287885	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:62287885C>T	ENST00000378024.4	-	5	14278	c.14004G>A	c.(14002-14004)gaG>gaA	p.E4668E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4668					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCTGGGCCCTCTCCTTTGA	0.502000													8	510					0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62287882	62287882	+	Silent	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:62287882G>A	ENST00000378024.4	-	5	14281	c.14007C>T	c.(14005-14007)ggC>ggT	p.G4669G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4669					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACATCTGGGCCCTCTCCTT	0.507000													8	510					0	0	0.006122	0	0
TEP1	7011	broad.mit.edu	37	14	20859155	20859155	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:20859155A>C	ENST00000262715.5	-	14	2238	c.2198T>G	c.(2197-2199)gTg>gGg	p.V733G	TEP1_ENST00000556935.1_Missense_Mutation_p.V625G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	733					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCCTTAAGCACTGCAGTCTT	0.537000													6	188					0	0	0.001984	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962541	41962541	+	RNA	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr9:41962541T>C	ENST00000454645.1	-	0	963					NR_003670.1																						GTTCTTTATATACCATATGCA	0.328000													8	15					0	0	0.008291	0	0
H1FX	8971	broad.mit.edu	37	3	129034608	129034608	+	Silent	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:129034608G>T	ENST00000333762.4	-	1	512	c.138C>A	c.(136-138)ggC>ggA	p.G46G	H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	46	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						GGCTGTACTTGCCCGGCTGGT	0.612000													3	3					0.00909568	0.0100828	0.009096	1	0
FNDC1	84624	broad.mit.edu	37	6	159653451	159653451	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr6:159653451C>A	ENST00000297267.9	+	11	2107	c.1907C>A	c.(1906-1908)cCt>cAt	p.P636H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P573H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	636						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTTCCCTGCCTGCCAGCTTG	0.706000													20	26					2.4375e-19	3.55676e-19	0.007291	1	0
POTEC	388468	broad.mit.edu	37	18	14542714	14542714	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr18:14542714G>C	ENST00000358970.5	-	1	431	c.432C>G	c.(430-432)caC>caG	p.H144Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	144										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGCAGCTCTGTGGAGCTTGT	0.587000													3	120					0	0	0.004672	0	0
AOC3	8639	broad.mit.edu	37	17	41004563	41004563	+	Silent	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:41004563G>T	ENST00000308423.2	+	1	1363	c.1203G>T	c.(1201-1203)ggG>ggT	p.G401G		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	401					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.G401G(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGACCCGTGGGGTGGACTGCC	0.567000													30	88					3.99451e-17	5.49245e-17	0.009535	1	0
CD8B	926	broad.mit.edu	37	2	87073892	87073892	+	Silent	SNP	T	T	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:87073892T>A	ENST00000390655.6	-	4	556	c.498A>T	c.(496-498)ccA>ccT	p.P166P	CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Silent_p.P166P|CD8B_ENST00000331469.2_Silent_p.P166P|CD8B_ENST00000431506.2_Intron	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	166					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGCTACAAAGTGGGCCTGGAA	0.522000													4	6					0	0	0.001168	0	0
PADI2	11240	broad.mit.edu	37	1	17420155	17420155	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:17420155C>A	ENST00000375486.4	-	5	499	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Missense_Mutation_p.G146C	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	146					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCCCCTGGCCCTCGGGGCCC	0.592000													11	77					1.08611e-07	1.30515e-07	0.010729	1	0
FSCB	84075	broad.mit.edu	37	14	44974835	44974835	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:44974835C>G	ENST00000340446.4	-	1	1647	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	452						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGTAGGAGCCTCTTCTGCAG	0.502000													21	22					0	0	0.010504	0	0
NLRP8	126205	broad.mit.edu	37	19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATATCCAGCGCCTGATAGC	0.463000													4	207					0	0	0.001168	0	0
MRPL37	51253	broad.mit.edu	37	1	54683911	54683911	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:54683911G>T	ENST00000360840.5	+	7	1338	c.1261G>T	c.(1261-1263)Ggt>Tgt	p.G421C	MRPL37_ENST00000336230.6_Missense_Mutation_p.G290C|MRPL37_ENST00000605337.1_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	421					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ATATTTGCATGGTGCTGCGTG	0.542000													30	208					6.90743e-12	8.66458e-12	0.017118	1	0
COL3A1	1281	broad.mit.edu	37	2	189851866	189851866	+	Splice_Site	SNP	G	G	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:189851866G>C	ENST00000304636.3	+	5	698		c.e5+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGACCAGCTGTACGTACAAA	0.398000													47	53					0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	123953741	123953741	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:123953741A>G	ENST00000360013.3	+	3	335	c.208A>G	c.(208-210)Aga>Gga	p.R70G	KALRN_ENST00000240874.3_Missense_Mutation_p.R70G|KALRN_ENST00000460856.1_Missense_Mutation_p.R70G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	70	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGACAGAATAAGACAGGAAGA	0.567000													13	7					0	0	0.004990	0	0
FDX1	2230	broad.mit.edu	37	11	110327752	110327752	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:110327752G>A	ENST00000260270.2	+	3	659	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	141	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GCTCGATCTGGCATATGGACT	0.393000													7	396					0	0	0.001984	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969029	47969029	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:47969029G>A	ENST00000289672.2	-	7	882	c.832C>T	c.(832-834)Cct>Tct	p.P278S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	278					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGGCCACAGGAGGATGCTGA	0.562000													42	68					0	0	0.007835	0	0
CARD11	84433	broad.mit.edu	37	7	2954949	2954949	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:2954949T>C	ENST00000396946.4	-	21	3164	c.2761A>G	c.(2761-2763)Atc>Gtc	p.I921V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	921					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCGAGATGATGCGGACCCGC	0.617000			Mis		DLBCL								11	15					0	0	0.010729	0	0
RTN1	6252	broad.mit.edu	37	14	60074109	60074109	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:60074109C>A	ENST00000267484.5	-	4	2202	c.1867G>T	c.(1867-1869)Gtc>Ttc	p.V623F	RTN1_ENST00000342503.4_Missense_Mutation_p.V55F|RTN1_ENST00000395090.1_Missense_Mutation_p.V40F|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	623	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAGGCCACGACGCTCACCACG	0.562000													25	17					3.28513e-13	4.23219e-13	0.021523	1	0
SCIN	85477	broad.mit.edu	37	7	12684300	12684300	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:12684300C>T	ENST00000297029.5	+	13	1952	c.1851C>T	c.(1849-1851)taC>taT	p.Y617Y	SCIN_ENST00000445618.2_Silent_p.Y370Y|SCIN_ENST00000519209.1_Silent_p.Y370Y	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	617	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTCGGCTTTACGGCTGCTCTA	0.488000													7	15					0	0	0.003080	0	0
UPF1	5976	broad.mit.edu	37	19	18956882	18956882	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:18956882G>A	ENST00000262803.5	+	2	597	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	UPF1_ENST00000599848.1_Missense_Mutation_p.E109K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	109	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGGAAGATGAAGAAGACAC	0.592000													20	29					0	0	0.016522	0	0
ZNF629	23361	broad.mit.edu	37	16	30793474	30793474	+	Silent	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:30793474G>A	ENST00000262525.4	-	3	2382	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCTCAGAGCTGAGGCCAAAGC	0.557000													17	17					0	0	0.004990	0	0
DUSP22	56940	broad.mit.edu	37	6	348907	348907	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr6:348907G>T	ENST00000604971.1	+	4	1378	c.265G>T	c.(265-267)Gca>Tca	p.A89S	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.A89S|DUSP22_ENST00000605315.1_Missense_Mutation_p.A89S|DUSP22_ENST00000419235.2_Missense_Mutation_p.A192S			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGTTTTCCGGCACTGGCTCC	0.572000													6	15					3.59834e-05	4.18343e-05	0.001168	1	0
WDR48	57599	broad.mit.edu	37	3	39129712	39129712	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:39129712G>A	ENST00000302313.5	+	15	1596	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	WDR48_ENST00000544962.1_Missense_Mutation_p.R248H|WDR48_ENST00000396258.3_Missense_Mutation_p.R441H|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	523					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTGGAGGTCGCACACTGTTC	0.463000													4	112					0	0	0.014758	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240228	134240228	+	Missense_Mutation	SNP	C	C	T	rs141818395		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:134240228C>T	ENST00000535456.2	+	12	1338	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P384S|GLB1L2_ENST00000339772.7_Missense_Mutation_p.P384S	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	384					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P384S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCCAAGATGCCGTATGAGCC	0.592000													4	196					0	0	0.014758	0	0
BLK	640	broad.mit.edu	37	8	11412989	11412989	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:11412989G>T	ENST00000259089.4	+	8	1360	c.768G>T	c.(766-768)tgG>tgT	p.W256C	BLK_ENST00000529894.1_Missense_Mutation_p.W185C	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	256	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCGAAGTCTGGATGGGTGAGT	0.602000													33	13					7.05121e-23	1.03951e-22	0.010771	1	0
UNG	7374	broad.mit.edu	37	12	109536197	109536197	+	Silent	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr12:109536197G>T	ENST00000336865.2	+	1	275	c.66G>T	c.(64-66)ccG>ccT	p.P22P	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	0					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGAAGGGGCCGCTGCAGCTCT	0.687000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				20	22					8.04996e-18	1.12857e-17	0.012319	1	0
AHNAK	79026	broad.mit.edu	37	11	62292643	62292643	+	Silent	SNP	A	A	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:62292643A>T	ENST00000378024.4	-	5	9520	c.9246T>A	c.(9244-9246)ccT>ccA	p.P3082P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3082					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTTCATCTCAGGCATTTTGA	0.468000													7	348					0	0	0.006214	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68165702	68165702	+	Silent	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:68165702T>C	ENST00000262215.3	-	18	3071	c.2682A>G	c.(2680-2682)acA>acG	p.T894T	ARFGEF1_ENST00000520381.1_Silent_p.T348T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	894					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TACTTGATTTTGTAGGGATTG	0.328000													11	29					0	0	0.008291	0	0
TSKS	60385	broad.mit.edu	37	19	50245223	50245223	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:50245223C>T	ENST00000246801.3	-	9	1498	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	TSKS_ENST00000358830.3_Silent_p.L272L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	472							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTAGTGAGGTCAGTGCTCGGT	0.607000													67	64					0	0	0.014410	0	0
IRX5	10265	broad.mit.edu	37	16	54966629	54966629	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:54966629C>G	ENST00000394636.4	+	2	806	c.469C>G	c.(469-471)Ctc>Gtc	p.L157V	IRX5_ENST00000558597.1_Missense_Mutation_p.L91V|IRX5_ENST00000320990.5_Missense_Mutation_p.L157V|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	157					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CAAGATGACCCTCACCCAGGT	0.617000													93	121					0	0	0.014410	0	0
PTPRD	5789	broad.mit.edu	37	9	8486233	8486233	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr9:8486233G>A	ENST00000381196.4	-	25	3127	c.2584C>T	c.(2584-2586)Cgc>Tgc	p.R862C	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R862C|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R862C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R849C|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.R840C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	862	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATATCCTTGCGGCCAAATTTT	0.463000										TSP Lung(15;0.13)			4	142					0	0	0.014758	0	0
TM2D2	83877	broad.mit.edu	37	8	38853916	38853916	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:38853916C>T	ENST00000456397.2	-	1	136	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	15						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCCGCCTGGCCGCACAGAAGT	0.602000													6	22					0	0	0.001168	0	0
NQO1	1728	broad.mit.edu	37	16	69744936	69744936	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:69744936C>T	ENST00000320623.5	-	6	1279	c.768G>A	c.(766-768)gtG>gtA	p.V256V	NQO1_ENST00000561500.1_Intron|NQO1_ENST00000439109.2_Silent_p.V184V|NQO1_ENST00000379046.2_Silent_p.V218V|NQO1_ENST00000379047.3_Silent_p.V222V|NQO1_ENST00000564043.1_Silent_p.V235V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	256					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	AGTGATGGCCCACAGAAAGGC	0.423000													15	182					0	0	0.004990	0	0
CDH16	1014	broad.mit.edu	37	16	66945908	66945908	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:66945908G>T	ENST00000299752.4	-	13	1877	c.1684C>A	c.(1684-1686)Ccc>Acc	p.P562T	CDH16_ENST00000565796.1_Missense_Mutation_p.P562T|CDH16_ENST00000568632.1_Missense_Mutation_p.P465T|CDH16_ENST00000394055.3_Missense_Mutation_p.P562T|CDH16_ENST00000570262.1_Missense_Mutation_p.P482T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCCAACTTGGGGGGTGGCATC	0.662000													28	46					8.4185e-14	1.11467e-13	0.012213	1	0
FAM169B	283777	broad.mit.edu	37	15	98995157	98995157	+	Silent	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr15:98995157G>A	ENST00000558256.1	-	5	516	c.267C>T	c.(265-267)caC>caT	p.H89H	FAM169B_ENST00000332908.4_Silent_p.H89H	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	89										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCAAGCCTCGGTGCCAGTGTT	0.572000													25	21					0	0	0.004656	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573335	106573335	+	RNA	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:106573335C>T	ENST00000390601.2	-	0	368																											ATCGGCCCTTCACAGAGTCTG	0.522000													15	689					0	0	0.004656	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623577	74623577	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:74623577G>T	ENST00000156626.7	-	3	1119	c.920C>A	c.(919-921)tCc>tAc	p.S307Y	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	307					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GAAGTGTCTGGAGTCCAGGAA	0.527000													40	145					5.20837e-25	7.83997e-25	0.008740	1	0
SPEG	10290	broad.mit.edu	37	2	220353792	220353792	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:220353792C>A	ENST00000312358.7	+	35	8298	c.8166C>A	c.(8164-8166)caC>caA	p.H2722Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2722	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGTGTGGCACCCTGTGAGCT	0.637000													21	33					4.96729e-08	6.01968e-08	0.008871	1	0
NOTCH2	4853	broad.mit.edu	37	1	120458798	120458798	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:120458798T>C	ENST00000256646.2	-	34	6766	c.6547A>G	c.(6547-6549)Atg>Gtg	p.M2183V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2183					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCAACATAGGGTTGGGT	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				38	177					0	0	0.009718	0	0
KLHL1	57626	broad.mit.edu	37	13	70681530	70681530	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr13:70681530G>C	ENST00000377844.4	-	1	1061	c.302C>G	c.(301-303)aCg>aGg	p.T101R	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	101					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTGCAGCCTCGTGGCAACTGG	0.597000													11	33					0	0	0.010729	0	0
SLC39A14	23516	broad.mit.edu	37	8	22273418	22273418	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:22273418G>A	ENST00000381237.1	+	6	1006	c.887G>A	c.(886-888)gGc>gAc	p.G296D	SLC39A14_ENST00000240095.6_Missense_Mutation_p.G296D|SLC39A14_ENST00000289952.5_Missense_Mutation_p.G296D|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G296D	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	296						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAGCTGGACGGCAAGGCGCCC	0.602000													4	142					0	0	0.014758	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545863	112545863	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:112545863C>T	ENST00000341068.3	-	39	5519	c.4747G>A	c.(4747-4749)Gct>Act	p.A1583T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1583					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAGAGAAGAGCGGCAATGGAA	0.423000													7	69					0	0	0.013537	0	0
PRG3	10394	broad.mit.edu	37	11	57146264	57146264	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:57146264C>T	ENST00000287143.2	-	4	506	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	133	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.G133*(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						AGGTTGCCTCCGTAGCATCTG	0.493000													13	13					0	0	0.004007	0	0
RABGGTB	5876	broad.mit.edu	37	1	76253196	76253196	+	Silent	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:76253196G>A	ENST00000319942.3	+	2	89	c.18G>A	c.(16-18)aaG>aaA	p.K6K	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Silent_p.K6K	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	6					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CTCCACAGAAGGATGTTATTA	0.378000													33	185					0	0	0.017118	0	0
CHGB	1114	broad.mit.edu	37	20	5903537	5903537	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr20:5903537C>A	ENST00000378961.4	+	4	951	c.747C>A	c.(745-747)caC>caA	p.H249Q		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	249						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGAGAATCACCCCCAGGAGT	0.572000													41	31					1.61863e-15	2.18362e-15	0.014410	1	0
ZNF567	163081	broad.mit.edu	37	19	37210890	37210890	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:37210890A>G	ENST00000585696.1	+	3	2401	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V	ZNF567_ENST00000392163.2_Missense_Mutation_p.I391V|ZNF567_ENST00000360729.4_Missense_Mutation_p.I391V|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.I422V|ZNF567_ENST00000588311.1_Missense_Mutation_p.I391V			Q8N184	ZN567_HUMAN	zinc finger protein 567	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGCCCTATATTTGTAATGA	0.403000													4	81					0	0	0.013537	0	0
HAS3	3038	broad.mit.edu	37	16	69143594	69143594	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:69143594A>C	ENST00000306560.1	+	2	452	c.296A>C	c.(295-297)gAc>gCc	p.D99A	HAS3_ENST00000569188.1_Missense_Mutation_p.D99A|HAS3_ENST00000219322.3_Missense_Mutation_p.D99A	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	99					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGACCCTGACTACTTGCGC	0.677000													12	15					0	0	0.010729	0	0
MYO5A	4644	broad.mit.edu	37	15	52609419	52609419	+	Splice_Site	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr15:52609419C>A	ENST00000399231.3	-	39	5403	c.5159_splice	c.e39-1	p.R1720_splice	MYO5A_ENST00000399233.2_Splice_Site_p.R1717_splice|MYO5A_ENST00000358212.6_Splice_Site_p.R1745_splice|MYO5A_ENST00000553916.1_Splice_Site_p.R1718_splice|MYO5A_ENST00000356338.6_Splice_Site_p.R1693_splice	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1720	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGACATTGTACCTATGAAAAA	0.373000													35	0					1.96642e-18	2.81198e-18	0.006999	1	0
TBX15	6913	broad.mit.edu	37	1	119441650	119441650	+	Splice_Site	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:119441650C>A	ENST00000369429.3	-	7	1034		c.e7+1		TBX15_ENST00000207157.3_Splice_Site			Q96SF7	TBX15_HUMAN	T-box 15							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGGGCTTTACCTTGCTGCTT	0.527000													20	172					1.66031e-10	2.02926e-10	0.021523	1	0
CCDC7	221016	broad.mit.edu	37	10	32860802	32860802	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr10:32860802G>A	ENST00000362006.5	+	17	1978	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	CCDC7_ENST00000277657.6_Missense_Mutation_p.G479R|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375030.2_5'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	479										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TGCCCAAAGCGGAAGACTGAT	0.284000													11	25					0	0	0.010729	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100801842	100801842	+	Splice_Site	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr15:100801842C>A	ENST00000268070.4	-	6	979		c.e6-1			NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACAACTTAGCCTAAAAAAAGT	0.512000													22	11					5.35356e-11	6.59964e-11	0.016522	1	0
PKD1L1	168507	broad.mit.edu	37	7	47945470	47945470	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:47945470G>T	ENST00000289672.2	-	10	1542	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCATGCTGTGCCAAGCCTGG	0.418000													4	89					0.00909568	0.0100828	0.009096	1	0
CLCNKA	1187	broad.mit.edu	37	1	16358322	16358322	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:16358322C>T	ENST00000375692.1	+	17	1868	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	CLCNKA_ENST00000439316.2_Silent_p.P537P|CLCNKA_ENST00000331433.4_Silent_p.P580P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.P580P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	580	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCGAGTATCCCCTGGTGGAGA	0.602000													14	2					0	0	0.016723	0	0
NAA11	84779	broad.mit.edu	37	4	80246396	80246396	+	Silent	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr4:80246396A>G	ENST00000286794.4	-	1	808	c.636T>C	c.(634-636)tcT>tcC	p.S212S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	212						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCTCTCCACAGACTCCTTAG	0.527000													22	1					0	0	0.012319	0	0
RYR1	6261	broad.mit.edu	37	19	39058536	39058536	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:39058536G>C	ENST00000355481.4	+	92	13754	c.13623G>C	c.(13621-13623)gaG>gaC	p.E4541D	RYR1_ENST00000359596.3_Missense_Mutation_p.E4546D|RYR1_ENST00000360985.3_Missense_Mutation_p.E4541D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4546					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAACTGGAGGTGCAGAGGG	0.607000													24	42					0	0	0.004656	0	0
FLG2	388698	broad.mit.edu	37	1	152325391	152325391	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:152325391A>C	ENST00000388718.5	-	3	4943	c.4871T>G	c.(4870-4872)aTa>aGa	p.I1624R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1624							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTATCTCCTATCTGTCCATG	0.507000													17	570					0	0	0.014323	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814171	106814171	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:106814171C>A	ENST00000407775.2	+	8	2111	c.1861C>A	c.(1861-1863)Ctt>Att	p.L621I	ZFPM2_ENST00000517361.1_Missense_Mutation_p.L489I|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L489I|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L352I|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	621					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAATCCACTTCTTCAAACATC	0.448000													25	75					1.64293e-13	2.15541e-13	0.018920	1	0
LILRB2	10288	broad.mit.edu	37	19	54782759	54782759	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:54782759C>T	ENST00000391748.1	-	6	990	c.863G>A	c.(862-864)cGc>cAc	p.R288H	LILRB2_ENST00000434421.1_Missense_Mutation_p.R172H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R288H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R288H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R288H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	288	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCGTAGGAGCGGCTCACAGG	0.657000													12	18					0	0	0.003163	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340032	42340032	+	Silent	SNP	G	G	T	rs55900479		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:42340032G>T	ENST00000262418.6	-	3	233	c.78C>A	c.(76-78)atC>atA	p.I26I	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	26					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGACTCGGGGATGTCTGGGT	0.607000													16	7					2.54575e-18	3.60438e-18	0.010504	1	0
ZNF423	23090	broad.mit.edu	37	16	49823452	49823452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:49823452C>A	ENST00000561648.1	-	2	75	c.22G>T	c.(22-24)Gag>Tag	p.E8*	ZNF423_ENST00000262383.2_Nonsense_Mutation_p.E8*|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	8					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCTCCCCCTCTTCAACTGAA	0.572000													29	30					8.16721e-17	1.1123e-16	0.010818	1	0
SHANK1	50944	broad.mit.edu	37	19	51165647	51165647	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:51165647G>A	ENST00000293441.1	-	23	6079	c.6061C>T	c.(6061-6063)Ccc>Tcc	p.P2021S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P2012S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P2029S|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1408S|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2021					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCAGGATGGGCAGGGACGAG	0.711000													9	7					0	0	0.008291	0	0
DNAJC7	7266	broad.mit.edu	37	17	40134023	40134023	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:40134023G>A	ENST00000457167.4	-	12	1470	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	DNAJC7_ENST00000316603.7_Missense_Mutation_p.R356W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R356W	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	412	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CCACTATGCCGATCTAAAGTG	0.403000													18	45					0	0	0.006122	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361582	20361582	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:20361582C>T	ENST00000423676.3	-	3	310	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.G83R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	83	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TCCTCGGGCCCCCATCTTCCT	0.547000													29	192					0	0	0.012213	0	0
USH1C	10083	broad.mit.edu	37	11	17517186	17517186	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:17517186G>T	ENST00000005226.7	-	26	2584	c.2585C>A	c.(2584-2586)cCg>cAg	p.P862Q	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTTCGGACCGGTTGGGGGCT	0.587000													72	65					3.86735e-44	5.94657e-44	0.014410	1	0
CEP290	80184	broad.mit.edu	37	12	88457805	88457805	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr12:88457805G>T	ENST00000552810.1	-	45	6566	c.6223C>A	c.(6223-6225)Ctg>Atg	p.L2075M	CEP290_ENST00000547691.2_Missense_Mutation_p.L1135M|CEP290_ENST00000397838.3_Missense_Mutation_p.L1135M|CEP290_ENST00000309041.7_Missense_Mutation_p.L2077M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2075					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGAAATTTCAGTTCAATATTT	0.333000													3	14					6.4e-05	7.38065e-05	0.004672	1	0
SLIT3	6586	broad.mit.edu	37	5	168151488	168151488	+	Splice_Site	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr5:168151488A>G	ENST00000519560.1	-	21	2691	c.2270_splice	c.e21-1	p.Y758_splice	SLIT3_ENST00000404867.3_Splice_Site_p.Y758_splice|SLIT3_ENST00000332966.8_Splice_Site_p.Y758_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	758					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGGTACCTGAAAGAG	0.512000													2	0					0	0	0.004672	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047570	42047570	+	Missense_Mutation	SNP	G	G	A	rs141506685	byFrequency	TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:42047570G>A	ENST00000372584.1	-	3	3913	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R967C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R967C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R967C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	967	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R967C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTTTGGGGCGCATGTCAGAT	0.612000													4	183					0	0	0.014758	0	0
KIAA0430	9665	broad.mit.edu	37	16	15690621	15690621	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr16:15690621C>T	ENST00000396368.3	-	27	5364	c.5158G>A	c.(5158-5160)Gcc>Acc	p.A1720T	KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1717T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1720T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1717T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A1555T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A1408T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1719						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCTTTTTGGCCGGGCTTTCC	0.522000													4	211					0	0	0.014758	0	0
FOXO3	2309	broad.mit.edu	37	6	108985148	108985148	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr6:108985148A>T	ENST00000406360.1	+	2	1455	c.1112A>T	c.(1111-1113)gAt>gTt	p.D371V	FOXO3_ENST00000343882.6_Missense_Mutation_p.D371V|FOXO3_ENST00000540898.1_Missense_Mutation_p.D151V	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	371				D -> E (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGGCTGACTGATATGGCAGGC	0.577000													7	31					0	0	0.003163	0	0
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373000													7	690					0	0	0.003080	0	0
WWP1	11059	broad.mit.edu	37	8	87423913	87423913	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr8:87423913G>A	ENST00000517970.1	+	9	1178	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	WWP1_ENST00000341922.2_Missense_Mutation_p.E161K|WWP1_ENST00000349423.2_Missense_Mutation_p.E73K|WWP1_ENST00000265428.4_Missense_Mutation_p.E291K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	291					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GACTTCCTCAGAAAACAATGA	0.398000													10	79					0	0	0.006214	0	0
ZNF550	162972	broad.mit.edu	37	19	58058537	58058537	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:58058537T>C	ENST00000325134.5	-	3	1135	c.979A>G	c.(979-981)Ata>Gta	p.I327V	ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.I359V|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.I318V|ZNF549_ENST00000594943.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTGCTGTATGAGTTCTGAG	0.502000													18	49					0	0	0.006122	0	0
ATF2	1386	broad.mit.edu	37	2	175962264	175962264	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:175962264T>C	ENST00000264110.2	-	11	1184	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	ATF2_ENST00000426833.3_Missense_Mutation_p.K278E|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.K296E|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000538946.1_Missense_Mutation_p.K278E|ATF2_ENST00000345739.5_Missense_Mutation_p.K238E|ATF2_ENST00000409635.1_Missense_Mutation_p.K238E|ATF2_ENST00000409437.1_Missense_Mutation_p.K180E|ATF2_ENST00000409499.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	296					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCATGACCTTTGACAGTATCA	0.428000													8	118					0	0	0.004482	0	0
LSAMP	4045	broad.mit.edu	37	3	115529219	115529219	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:115529219G>A	ENST00000490035.1	-	7	1461	c.962C>T	c.(961-963)gCc>gTc	p.A321V	LSAMP_ENST00000539563.1_Missense_Mutation_p.A341V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	321					cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.A321V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGTGGTACGGCCAGACTGAT	0.423000													16	21					0	0	0.006122	0	0
ZNF256	10172	broad.mit.edu	37	19	58452773	58452773	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:58452773C>T	ENST00000282308.3	-	3	1599	c.1403G>A	c.(1402-1404)tGt>tAt	p.C468Y	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	468					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGATTTTCCACATTCACTGCA	0.403000													28	188					0	0	0.005443	0	0
MYH9	4627	broad.mit.edu	37	22	36691012	36691012	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr22:36691012T>A	ENST00000216181.5	-	27	3826	c.3596A>T	c.(3595-3597)gAg>gTg	p.E1199V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1199					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCCAGCTCCTCCACGGCCTG	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				16	34					0	0	0.016522	0	0
LIPE	3991	broad.mit.edu	37	19	42909604	42909604	+	Silent	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:42909604G>T	ENST00000244289.4	-	8	2751	c.2475C>A	c.(2473-2475)tcC>tcA	p.S825S	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	825					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGAGCCATGAGGAGGCACCCA	0.617000													28	31					4.87955e-14	6.52127e-14	0.005443	1	0
ZNF32	7580	broad.mit.edu	37	10	44139741	44139741	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr10:44139741C>A	ENST00000395797.1	-	3	767	c.579G>T	c.(577-579)caG>caT	p.Q193H	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Q193H	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTTTTCCACACTGATCACATC	0.478000													30	61					5.60225e-13	7.15287e-13	0.009535	1	0
STXBP5L	9515	broad.mit.edu	37	3	120876382	120876382	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:120876382G>A	ENST00000273666.6	+	9	1056	c.785G>A	c.(784-786)gGc>gAc	p.G262D	STXBP5L_ENST00000492541.1_Missense_Mutation_p.G262D|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G262D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G262D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G262D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	262					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CATCATGAGGGCAAACAGTTC	0.378000													4	167					0	0	0.009096	0	0
ATG2A	23130	broad.mit.edu	37	11	64670071	64670071	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:64670071T>A	ENST00000421419.2	-	27	3808	c.3694A>T	c.(3694-3696)Aac>Tac	p.N1232Y	ATG2A_ENST00000377264.3_Missense_Mutation_p.N1232Y			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1232							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGAGCAGGTTGACCAGCAGG	0.662000													7	5					0	0	0.003080	0	0
RPTOR	57521	broad.mit.edu	37	17	78858847	78858847	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:78858847G>T	ENST00000306801.3	+	17	2244	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	628					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CACGTTCGTGGGCAACTCTGC	0.667000													6	4					3.59834e-05	4.18343e-05	0.001168	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623576	74623576	+	Silent	SNP	G	G	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:74623576G>T	ENST00000156626.7	-	3	1120	c.921C>A	c.(919-921)tcC>tcA	p.S307S	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	307					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGAAGTGTCTGGAGTCCAGGA	0.527000													39	143					7.53189e-24	1.12194e-23	0.007835	1	0
UNC13D	201294	broad.mit.edu	37	17	73830750	73830750	+	Silent	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:73830750C>A	ENST00000207549.4	-	22	2419	c.2040G>T	c.(2038-2040)cgG>cgT	p.R680R	UNC13D_ENST00000412096.2_Silent_p.R680R	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	680					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCGCGGGCCCGGGCCTTTA	0.637000									Familial Hemophagocytic Lymphohistiocytosis				3	7					0.00024832	0.000279604	0.009096	1	0
AKAP6	9472	broad.mit.edu	37	14	33291422	33291422	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:33291422A>G	ENST00000280979.4	+	13	4573	c.4403A>G	c.(4402-4404)tAt>tGt	p.Y1468C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1468					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTACATTTTATGATTACTCA	0.378000													4	145					0	0	0.014758	0	0
PNPLA1	285848	broad.mit.edu	37	6	36260881	36260881	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr6:36260881T>C	ENST00000394571.2	+	3	482	c.482T>C	c.(481-483)aTc>aCc	p.I161T	PNPLA1_ENST00000312917.5_Missense_Mutation_p.I66T|PNPLA1_ENST00000388715.3_Missense_Mutation_p.I66T	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	161	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TGTGGCCTCATCCCCCCGACT	0.652000													4	105					0	0	0.014758	0	0
FSCB	84075	broad.mit.edu	37	14	44974834	44974834	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:44974834C>A	ENST00000340446.4	-	1	1648	c.1357G>T	c.(1357-1359)Gct>Tct	p.A453S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	453						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGTAGGAGCCTCTTCTGCA	0.502000													22	22					1.87028e-06	2.21033e-06	0.012319	1	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	34					0	0	0.001168	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968257	102968257	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:102968257A>T	ENST00000233954.1	+	11	1818	c.1547A>T	c.(1546-1548)cAc>cTc	p.H516L		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	516	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGGAGGACCACATTGCCAAT	0.512000													15	56					0	0	0.012319	0	0
TP73	7161	broad.mit.edu	37	1	3599745	3599745	+	Splice_Site	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:3599745G>A	ENST00000378295.4	+	3	341		c.e3+1		TP73_ENST00000604479.1_Splice_Site|TP73_ENST00000604074.1_Splice_Site|TP73_ENST00000346387.4_Splice_Site|TP73_ENST00000603362.1_Splice_Site|TP73_ENST00000357733.3_Splice_Site|TP73_ENST00000354437.4_Splice_Site	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73						cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ATCTGTCATGGTGAGTGGGGG	0.592000													10	13					0	0	0.013537	0	0
RYR2	6262	broad.mit.edu	37	1	237823355	237823355	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:237823355A>G	ENST00000366574.2	+	55	8596	c.8279A>G	c.(8278-8280)tAt>tGt	p.Y2760C	RYR2_ENST00000360064.6_Missense_Mutation_p.Y2758C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y2744C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2760	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAAGCCATATAAGCTATTG	0.254000													10	7					0	0	0.008291	0	0
MTMR12	54545	broad.mit.edu	37	5	32229893	32229893	+	Silent	SNP	C	C	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr5:32229893C>T	ENST00000382142.3	-	16	2405	c.2235G>A	c.(2233-2235)ggG>ggA	p.G745G	MTMR12_ENST00000280285.5_Silent_p.G691G|MTMR12_ENST00000264934.5_Silent_p.G635G	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	745						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCACACATCCCCTAGGTCCA	0.512000													51	27					0	0	0.014410	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909141	92909141	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:92909141G>A	ENST00000532405.1	+	6	789	c.563G>A	c.(562-564)tGc>tAc	p.C188Y	SLC24A4_ENST00000531433.1_Missense_Mutation_p.C188Y|SLC24A4_ENST00000351924.5_Missense_Mutation_p.C171Y|SLC24A4_ENST00000393265.2_Missense_Mutation_p.C124Y|SLC24A4_ENST00000298877.1_Missense_Mutation_p.C171Y			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	188						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATTGGAGTGTGCGGACTGTTT	0.577000													68	70					0	0	0.014410	0	0
NFYC	4802	broad.mit.edu	37	1	41236477	41236478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:41236477_41236478insC	ENST00000372652.1	+	10	1565_1566	c.1297_1298insC	c.(1297-1299)cccfs	p.P433fs	NFYC_ENST00000372654.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000456393.2_Frame_Shift_Ins_p.P328fs|NFYC_ENST00000372651.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000308733.5_Frame_Shift_Ins_p.P452fs|NFYC_ENST00000425457.2_Frame_Shift_Ins_p.P348fs|NFYC_ENST00000447388.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000440226.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000372653.1_Frame_Shift_Ins_p.P295fs|NFYC_ENST00000427410.2_Frame_Shift_Ins_p.P291fs			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	452					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CGACGGGCAGGCCCCCCAGGTG	0.639													8	220	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99553646	99553646	+	RNA	DEL	A	A	-	rs78048414		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:99553646delA	ENST00000425113.1	+	0	370					NR_033940.1																						agagaaaaggaaaaaaaaagt	0.353													6	6	---	---	---	---					
CAMSAP2	23271	broad.mit.edu	37	1	200822548	200822549	+	Frame_Shift_Ins	INS	-	-	A	rs11553541		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr1:200822548_200822549insA	ENST00000358823.2	+	13	4018_4019	c.3748_3749insA	c.(3748-3750)aaafs	p.K1250fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Ins_p.K1234fs|CAMSAP2_ENST00000236925.4_Frame_Shift_Ins_p.K1261fs	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1261						cytoplasm|microtubule	protein binding										AGTAGTAAAACAAAAAAAACAG	0.366													7	117	---	---	---	---					
FAM161A	84140	broad.mit.edu	37	2	62067325	62067326	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:62067325_62067326insT	ENST00000404929.1	-	3	824_825	c.813_814insA	c.(811-816)aaaagafs	p.R272fs	FAM161A_ENST00000405894.3_Frame_Shift_Ins_p.R272fs	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	272					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCTTCTTGTTTTTTGAGCG	0.376													7	245	---	---	---	---					
CD207	50489	broad.mit.edu	37	2	71060984	71060984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr2:71060984delG	ENST00000410009.3	-	3	403	c.358delC	c.(358-360)gtfs	p.R120fs		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	120					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AACTGAGAACGCACATAACCC	0.463													37	51	---	---	---	---					
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(133-138)ccccccfs	p.PP45fs	TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	45	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614													8	177	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33881300	33881301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr5:33881300_33881301insG	ENST00000504830.1	-	2	747_748	c.412_413insC	c.(412-414)ctgfs	p.L138fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L138I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGATGGCAGAGGGGGGCAGAG	0.540										HNSCC(64;0.19)			8	268	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5401258	5401259	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:5401258_5401259insGG	ENST00000399537.4	-	14	4975_4976	c.4627_4628insCC	c.(4627-4629)caafs	p.Q1543fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.Q1543fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCTCTCTTGCGGGGGGGCGAC	0.693													2	4	---	---	---	---					
TRGV2	6974	broad.mit.edu	37	7	38403092	38403095	+	RNA	DEL	TCTG	TCTG	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr7:38403092_38403095delTCTG	ENST00000426402.2	-	0	24_27																											TGACTGAGGATCTGTCTAAGAGGA	0.569													7	5	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27185544	27185545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr9:27185544_27185545insC	ENST00000380036.4	+	9	1686_1687	c.1244_1245insC	c.(1243-1245)cccfs	p.P415fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	415	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CACCGGATCCTCCCCCCTGACT	0.436													8	436	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62287479	62287488	+	Frame_Shift_Del	DEL	GGCTCACATC	GGCTCACATC	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:62287479_62287488delGGCTCACATC	ENST00000378024.4	-	5	14675_14684	c.14401_14410delGATGTGAGCC	c.(14401-14412)tgfs	p.DVSL4801fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4801					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTTGGGCAGGCTCACATCCACATCTGGA	0.524													17	351	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62287863	62287872	+	Frame_Shift_Del	DEL	GGTTCACATC	GGTTCACATC	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:62287863_62287872delGGTTCACATC	ENST00000378024.4	-	5	14291_14300	c.14017_14026delGATGTGAACC	c.(14017-14028)tgfs	p.DVNL4673fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4673					nervous system development	nucleus	protein binding	p.V4674L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTTGGGCAGGTTCACATCCACATCTGGG	0.505													13	590	---	---	---	---					
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr11:88258517_88258518insG	ENST00000418177.2	-	9	3052_3053	c.2685_2686insC	c.(2683-2688)ccaaggfs	p.R896fs	GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000393297.1_Splice_Site			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATACTCCCTTTGGGGGTGAAAC	0.485													7	1088	---	---	---	---					
MFSD5	84975	broad.mit.edu	37	12	53647283	53647284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr12:53647283_53647284insG	ENST00000534842.1	+	2	1132_1133	c.985_986insG	c.(985-987)gggfs	p.G329fs	MFSD5_ENST00000329548.4_Frame_Shift_Ins_p.G222fs	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	222					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCGAAACTGGGGGGAGAAC	0.653													8	145	---	---	---	---					
ALDH2	217	broad.mit.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-858)cggfs	p.R286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma								8	76	---	---	---	---					
CTD-2251F13.1	0	broad.mit.edu	37	14	30677426	30677429	+	RNA	DEL	GGAG	GGAG	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr14:30677426_30677429delGGAG	ENST00000508469.2	-	0	69																											TAGCAATAAAggagggagggaggg	0.466													5	4	---	---	---	---					
HMG20A	10363	broad.mit.edu	37	15	77759512	77759513	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr15:77759512_77759513insC	ENST00000381714.3	+	5	741_742	c.313_314insC	c.(313-315)cccfs	p.P105fs	HMG20A_ENST00000336216.4_Frame_Shift_Ins_p.P105fs	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	105					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCACCCAAATCCCCCCTTACA	0.431													8	390	---	---	---	---					
TBC1D27	96597	broad.mit.edu	37	17	16828665	16828666	+	RNA	INS	-	-	T			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:16828665_16828666insT	ENST00000261651.2	-	0	3348_3349																											AGGTCCCAGTGTTTTTTTGTGA	0.614													2	4	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056613	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs61731354	byFrequency	TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr17:56056605_56056613delTGCTGCTGC	ENST00000584396.1	-	5	1099_1107	c.1011_1019delGCAGCAGCA	c.(1009-1020)caa>ca	p.QQQQ341del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQQQ350del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	350	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgctgctgct	0.464													11	179	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8182044	8182052	+	Splice_Site	DEL	CCCACCTAC	CCCACCTAC	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chr19:8182044_8182052delCCCACCTAC	ENST00000600128.1	-	28	4001		c.e28+1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAAGTTGTGCCCACCTACCTGCACATGC	0.612													23	51	---	---	---	---					
ASMT	438	broad.mit.edu	37	X	1742081	1742081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chrX:1742081delC	ENST00000381241.3	+	2	318	c.119delC	c.(118-120)gcfs	p.A40fs	ASMT_ENST00000381233.3_Frame_Shift_Del_p.A40fs|ASMT_ENST00000381229.4_Frame_Shift_Del_p.A40fs	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	40					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCGCCGAGGCCCCAGGGCCC	0.647													24	75	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	4	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153940634	153940635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z058-01A-01W-0747-08	TCGA-17-Z058-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b0b1fca-efce-49d6-9f7b-a2c34bb343e9	78fe38ad-721a-4836-9736-62314d69b2dc	g.chrX:153940634_153940635insG	ENST00000369575.3	-	4	966_967	c.935_936insC	c.(934-936)caafs	p.Q312fs	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Frame_Shift_Ins_p.Q313fs	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	312										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTGGCTTAGGGGGGCGGGG	0.495													8	221	---	---	---	---					
