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
SACS	26278	broad.mit.edu	37	13	23909470	23909470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:23909470G>A	ENST00000382298.3	-	10	9133	c.8545C>T	c.(8545-8547)Cca>Tca	p.P2849S	SACS_ENST00000402364.1_Missense_Mutation_p.P2099S|SACS_ENST00000382292.3_Missense_Mutation_p.P2849S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2849					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACCACGTGGGAAAAGAGTA	0.408000													7	57					0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189870	62189870	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62189870T>A	ENST00000534397.1	+	3	319	c.128T>A	c.(127-129)aTt>aAt	p.I43N	SCGB1A1_ENST00000278282.2_Missense_Mutation_p.I78N|CTD-2531D15.4_ENST00000528983.1_RNA			P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	78					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						GAAAGCATCATTAAGCTCATG	0.527000													16	77					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502572	90502572	+	Missense_Mutation	SNP	C	C	T	rs145805743		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:90502572C>T	ENST00000325643.5	+	4	3236	c.3170C>T	c.(3169-3171)tCg>tTg	p.S1057L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGGGCAAGTTCGGGAAGTGTT	0.597000													24	86					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52034594C>T	ENST00000346477.3	-	2	315	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000													19	86					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82387949	82387949	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82387949A>C	ENST00000333891.8	-	25	15708	c.15371T>G	c.(15370-15372)cTc>cGc	p.L5124R		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5047					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTTTTCTGAGATCCACTTT	0.378000													32	162					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066240	73066240	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:73066240G>A	ENST00000429829.1	-	0	6348					NR_001564.2																						GAGGTATGTGGAGAGGACCCT	0.468000													12	20					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566873	142566873	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142566873G>A	ENST00000392957.2	+	16	3217	c.2430G>A	c.(2428-2430)aaG>aaA	p.K810K	EPHB6_ENST00000442129.1_Silent_p.K810K|EPHB6_ENST00000411471.2_Silent_p.K533K	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	810	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGTGTGCAAGGTGGCCCGTC	0.642000													20	96					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411555	23411555	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:23411555C>T	ENST00000379361.4	+	3	2780	c.1920C>T	c.(1918-1920)gtC>gtT	p.V640V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	640					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGATGAGGTCGATGTAGTGG	0.398000													17	34					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058942	113058942	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:113058942G>A	ENST00000369684.4	+	3	1069	c.584G>A	c.(583-585)gGt>gAt	p.G195D	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Missense_Mutation_p.G103D|WNT2B_ENST00000369686.4_Missense_Mutation_p.G176D	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	195					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCCACTACGGTGTCCGTTTT	0.577000													25	95					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378601	156378601	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156378601T>C	ENST00000274532.2	-	3	657	c.601A>G	c.(601-603)Acc>Gcc	p.T201A	TIMD4_ENST00000407087.3_Missense_Mutation_p.T201A	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	201	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGCTTGGGGTTAGTGAAAGG	0.542000													13	108					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632602	143632602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143632602C>T	ENST00000408955.2	+	1	344	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TAAAGCCATCCCATTCCAGAG	0.517000													35	202					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423747	107423747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:107423747C>T	ENST00000340010.5	-	9	1206	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.G306E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	341					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGCAATCTCCTACGGTGTT	0.423000													22	60					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855836	17855836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:17855836G>A	ENST00000378814.5	-	6	325	c.326C>T	c.(325-327)tCc>tTc	p.S109F	KIF13A_ENST00000259711.6_Missense_Mutation_p.S109F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S109F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S109F|KIF13A_ENST00000378843.2_Missense_Mutation_p.S109F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	109	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGGAAAAGGATTTTCCCGA	0.463000													3	10					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89732029	89732029	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:89732029G>A	ENST00000343435.5	-	7	1404	c.868_splice	c.e7+1	p.R290_splice	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Splice_Site_p.R290_splice	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	290						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAATACTCACGAGATCCATTG	0.358000													10	36					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110259097	110259097	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:110259097C>T	ENST00000309415.6	+	10	2498	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	833	SH3 4.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GTGGTGGTCTCGTACCCACCC	0.587000													5	20					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365848	7365848	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7365848G>T	ENST00000311403.4	-	4	2792	c.2453C>A	c.(2452-2454)gCc>gAc	p.A818D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A818D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTCTTGGGGGGCTTCCTCCTT	0.652000													11	35					1.33987e-11	1.36064e-11	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22216496	22216496	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:22216496G>A	ENST00000374695.3	-	6	631	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	184	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCGGAACTGGAATCCCTGGG	0.622000													18	72					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870900	135870900	+	Missense_Mutation	SNP	G	G	A	rs147779185		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:135870900G>A	ENST00000309993.2	-	2	1555	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	MSL2_ENST00000434835.2_Missense_Mutation_p.R201C	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	275					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTAAGCTGCGGAGTACTTCC	0.438000													9	77					0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8889953	8889953	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:8889953T>G	ENST00000333050.6	-	2	531	c.498A>C	c.(496-498)gaA>gaC	p.E166D	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	166						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTCCTTGGTTTCTGTCAGGG	0.572000													31	108					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:240969562C>T	ENST00000366565.1	-	15	1528	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	RGS7_ENST00000366564.1_Missense_Mutation_p.E383K|RGS7_ENST00000407727.1_Missense_Mutation_p.E383K|RGS7_ENST00000446183.2_Missense_Mutation_p.E299K|RGS7_ENST00000366563.1_Missense_Mutation_p.E383K|RGS7_ENST00000331110.7_Missense_Mutation_p.E357K|RGS7_ENST00000366562.4_Missense_Mutation_p.E383K|RGS7_ENST00000401882.1_Missense_Mutation_p.E330K|RGS7_ENST00000348120.2_Missense_Mutation_p.E330K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	383	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCATATTTCCTGAACTCTT	0.473000													13	111					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170405	121170405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:121170405C>T	ENST00000297848.3	+	3	395	c.125C>T	c.(124-126)tCt>tTt	p.S42F	COL14A1_ENST00000537875.1_Missense_Mutation_p.S42F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S42F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S42F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	42	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343000													16	44					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720364	101720364	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:101720364G>A	ENST00000251127.6	-	39	4433	c.4352C>T	c.(4351-4353)tCc>tTc	p.S1451F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1451						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S1451F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAACAAGGAGAAATTCTC	0.318000													6	35					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576997	71576997	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71576997C>T	ENST00000409544.1	+	2	1543	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	ZNF638_ENST00000355812.3_Missense_Mutation_p.L305F|ZNF638_ENST00000377802.2_Missense_Mutation_p.L305F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.L305F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	305					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACAGTCAGTCCTTGAACCCAT	0.443000													16	145					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99508279	99508279	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:99508279G>A	ENST00000376460.1	-	34	3784	c.3704C>T	c.(3703-3705)cCa>cTa	p.P1235L	DOCK9_ENST00000448493.2_Missense_Mutation_p.P1247L|DOCK9_ENST00000339416.2_Missense_Mutation_p.P1236L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1236					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGTATATGGAGAAGCTAA	0.363000													4	35					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362910	40362910	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:40362910G>C	ENST00000221347.6	-	32	15167	c.15160C>G	c.(15160-15162)Cgg>Ggg	p.R5054G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5054	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGGTTCCGGAGCTGCCCG	0.657000													15	103					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511689	36511689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:36511689G>A	ENST00000526995.1	-	7	1514	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	TRAF6_ENST00000348124.5_Missense_Mutation_p.P423L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	423	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GAAGGGCCAAGGGAGGTGGCT	0.483000													8	56					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103237482	103237482	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:103237482C>T	ENST00000553106.1	-	11	1613	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	PAH_ENST00000307000.2_Missense_Mutation_p.E376K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	381					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCTGGAACTCCGTGACAGTG	0.502000													4	62					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993791	140993791	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:140993791C>T	ENST00000285879.4	+	4	887	c.601C>T	c.(601-603)Cct>Tct	p.P201S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	201							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCCAGATTCCTGTGAGCCG	0.502000										HNSCC(15;0.026)			18	116					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918807	16918807	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:16918807C>T	ENST00000524140.2	+	18	4565	c.4147C>T	c.(4147-4149)Ccc>Tcc	p.P1383S	NWD1_ENST00000379808.3_Missense_Mutation_p.P1383S|NWD1_ENST00000552788.1_Missense_Mutation_p.P1383S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1341S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1177S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1248S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1383							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGCGTTTCCCTTGGAGAC	0.587000													22	130					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733045	152733045	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152733045C>T	ENST00000368773.1	+	2	1039	c.981C>T	c.(979-981)atC>atT	p.I327I	KPRP_ENST00000606109.1_Silent_p.I327I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	327	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCGAATCGAGATTTCCT	0.627000													21	62					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649726	7649726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7649726C>T	ENST00000359156.4	-	5	984	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CD163_ENST00000396620.3_Missense_Mutation_p.G261E|CD163_ENST00000432237.2_Missense_Mutation_p.G261E|CD163_ENST00000541972.1_Missense_Mutation_p.G249E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	261					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGATCTGCTCCCTCTGTAAC	0.448000													33	132					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96273426	96273426	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:96273426T>G	ENST00000344280.3	-	12	1695	c.1138A>C	c.(1138-1140)Aaa>Caa	p.K380Q	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	380										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTACGTTTTATCCTGTATA	0.373000													3	46					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650938	61650938	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:61650938C>T	ENST00000397985.2	+	5	806	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	SERPINB8_ENST00000353706.2_Missense_Mutation_p.L184F|SERPINB8_ENST00000542677.1_Missense_Mutation_p.L2F|SERPINB8_ENST00000397988.3_Missense_Mutation_p.L184F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	184					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AAGGGGAATGCTCTTTAAAAC	0.363000													26	77					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133355132	133355132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:133355132G>A	ENST00000372394.1	+	11	1199	c.718G>A	c.(718-720)Gat>Aat	p.D240N	ASS1_ENST00000352480.5_Missense_Mutation_p.D240N|ASS1_ENST00000493984.2_Intron|ASS1_ENST00000372393.3_Missense_Mutation_p.D240N			P00966	ASSY_HUMAN	argininosuccinate synthase 1	240					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAACGTCAAGGATGGCACCAC	0.647000													20	90					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501592	134501592	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:134501592G>A	ENST00000372195.1	-	10	1662	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Silent_p.L474L|RAPGEF1_ENST00000372189.3_Silent_p.L456L			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	456					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCTTCTCGGGGAGAGCAGGTG	0.647000													5	24					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865862	18865862	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18865862C>T	ENST00000447925.2	-	6	891	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E73K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E210K|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	210	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACAACAGGTTCATTTTGTGCT	0.388000													16	85					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71094430	71094430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:71094430G>A	ENST00000396396.1	+	8	1485	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	419					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAAATTGTCCGAGATCACTGG	0.537000													36	97					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27168487	27168487	+	Missense_Mutation	SNP	C	C	T	rs145238225		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:27168487C>T	ENST00000305364.4	-	1	349	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TRIM35_ENST00000521253.1_Missense_Mutation_p.G89D	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	89					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAGCGCGCGCCCTCGGCCTC	0.677000													6	22					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911042	150911042	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:150911042C>T	ENST00000329903.4	+	5	550	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	173					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTACTACCTGGTGTGGCT	0.552000													64	102					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514095	79514095	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79514095G>A	ENST00000537152.1	-	5	2085	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	C17orf70_ENST00000425898.2_Silent_p.P320P|C17orf70_ENST00000327787.8_Silent_p.P671P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	671					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCTCGGGTGGGGCCGAGTG	0.687000													11	28					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142640628	142640628	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:142640628C>T	ENST00000296545.7	+	3	855	c.12_splice	c.e3+1	p.S4_splice	IL15_ENST00000529613.1_Splice_Site_p.S4_splice|IL15_ENST00000514653.1_5'UTR|IL15_ENST00000320650.4_Splice_Site_p.S4_splice|IL15_ENST00000477265.1_5'UTR			P40933	IL15_HUMAN	interleukin 15	4					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					ATGAGAATTTCGGTAAGAAAA	0.393000													10	30					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:28202874C>T	ENST00000354638.3	-	16	1799	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	OCA2_ENST00000353809.5_Silent_p.K524K|OCA2_ENST00000382996.2_Silent_p.K548K	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism				4	43					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119324127	119324127	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:119324127T>G	ENST00000338891.7	-	9	2468	c.2025A>C	c.(2023-2025)aaA>aaC	p.K675N	FAM184A_ENST00000368475.4_Missense_Mutation_p.K555N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K675N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K555N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	675										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTCTCGATCTTTCAACTGCA	0.353000													20	65					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6089631	6089631	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:6089631G>A	ENST00000199389.6	-	3	469	c.323C>T	c.(322-324)aCt>aTt	p.T108I	EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	108					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTCACTACAAGTGAAAGAAGA	0.353000													15	57					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186263	5186263	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:5186263G>A	ENST00000274181.7	+	5	1000	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E288K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	288					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGAAATGAAGAACTGAA	0.473000													6	67					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785596	129785596	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:129785596G>A	ENST00000358825.5	-	17	2728	c.2497C>T	c.(2497-2499)Ccc>Tcc	p.P833S	PRDM10_ENST00000304538.6_Missense_Mutation_p.P743S|PRDM10_ENST00000423662.2_Missense_Mutation_p.P747S|PRDM10_ENST00000526082.1_Missense_Mutation_p.P747S|PRDM10_ENST00000528746.1_Missense_Mutation_p.P803S|PRDM10_ENST00000360871.3_Missense_Mutation_p.P829S	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	833					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCAGACGGGAGGGGTGGCG	0.602000													25	121					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089292	43089292	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:43089292G>A	ENST00000401850.1	-	2	1155	c.666C>T	c.(664-666)gcC>gcT	p.A222A	A4GALT_ENST00000249005.2_Silent_p.A222A|A4GALT_ENST00000381278.3_Silent_p.A222A			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	222					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCGCTCGAAGGCCAGGAACG	0.632000													4	32					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78181624	78181624	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:78181624C>T	ENST00000264914.4	-	5	1461	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	ARSB_ENST00000565165.1_Missense_Mutation_p.G309S|ARSB_ENST00000396151.3_Missense_Mutation_p.G309S|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	309					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAGTTATTACCCCCTGCCAAA	0.502000													9	159					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190113	58190113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58190113C>T	ENST00000318203.5	+	5	1839	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	381					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCCACAAAACCAACCTGCGG	0.468000													34	148					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905072	55905072	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55905072C>T	ENST00000301529.1	-	1	122	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGCCCAGGTTCCCTGCCATGG	0.493000													15	139					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013381	143013381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143013381C>T	ENST00000343257.2	+	1	163	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	26					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P26T(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTATATGCCCTTTGAACA	0.637000													20	183					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31439085	31439085	+	Splice_Site	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:31439085C>G	ENST00000225823.2	-	2	1581	c.708_splice	c.e2-1	p.V237_splice	ASIC2_ENST00000359872.6_Splice_Site_p.V186_splice|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	186					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TTTGTAAACACCTGAAGGAGA	0.522000													3	21					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76430278	76430278	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76430278C>T	ENST00000389840.5	-	75	12163	c.12039G>A	c.(12037-12039)aaG>aaA	p.K4013K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.K4014K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCCATCTCCTTGGTGCACA	0.602000													26	71					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31486981	31486981	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:31486981C>T	ENST00000333137.7	+	10	1190	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SMTN_ENST00000358743.1_Silent_p.F324F|SMTN_ENST00000347557.2_Silent_p.F324F	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	324					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCCTCATTCCAGCGGGCTG	0.602000													6	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074184	9074184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9074184G>A	ENST00000397910.4	-	3	13465	c.13262C>T	c.(13261-13263)cCa>cTa	p.P4421L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4423	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAAAATCTGGAGTCACAGC	0.498000													35	145					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699182	60699182	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:60699182C>T	ENST00000005286.4	+	6	1194	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	TMEM132A_ENST00000453848.2_Silent_p.F346F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	346						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTCTGAGTTCCTATGGGTGG	0.582000													38	139					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356656	22356656	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:22356656C>T	ENST00000390437.2	+	0	419																											CCCAGTGATTCAGCCACCTAC	0.517000													60	200					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907868	12907868	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12907868C>T	ENST00000317869.6	-	2	500	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCGTTTCCTCGGTTCACTTT	0.483000													4	167					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56345508	56345508	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56345508G>C	ENST00000331886.5	+	18	1982	c.1528G>C	c.(1528-1530)Gaa>Caa	p.E510Q	DGKA_ENST00000394147.1_Missense_Mutation_p.E510Q|DGKA_ENST00000551156.1_Missense_Mutation_p.E510Q|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	510					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCAACAAACTGAAGAAAAAAG	0.458000													3	57					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429121	135429121	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:135429121C>T	ENST00000394143.1	+	6	3547	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	GPR112_ENST00000370652.1_Missense_Mutation_p.R1086C|GPR112_ENST00000287534.4_Missense_Mutation_p.R1023C|GPR112_ENST00000394141.1_Missense_Mutation_p.R881C|GPR112_ENST00000412101.1_Missense_Mutation_p.R881C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1086					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGACTTGATTCGTACCACTTC	0.463000													79	123					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263110	42263110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:42263110C>T	ENST00000361204.4	+	2	530	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	122	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACCTCAGTTCCCACCACACC	0.582000													8	124					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													3	59					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687706	158687706	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158687706G>A	ENST00000368146.1	-	1	247	c.248C>T	c.(247-249)tCc>tTc	p.S83F	OR6K3_ENST00000368145.1_Missense_Mutation_p.S67F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S83F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCCAGAAAGGAAAATATACT	0.408000													47	200					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22779166	22779166	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22779166C>T	ENST00000600260.1	+	0	108					NR_033899.1																						CCTCCCTTCCCGCCCTGCCAT	0.602000													5	4					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96371777	96371777	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:96371777G>A	ENST00000261208.3	-	18	1967	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	HAL_ENST00000541929.1_Silent_p.S325S|HAL_ENST00000538703.1_Silent_p.S533S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	533					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATCCTCCCATGGAGACGTGGT	0.592000													16	90					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111418398	111418398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:111418398C>T	ENST00000428084.1	-	36	3885	c.3613G>A	c.(3613-3615)Gag>Aag	p.E1205K	DOCK4_ENST00000494651.2_Missense_Mutation_p.E79K|DOCK4_ENST00000437633.1_Missense_Mutation_p.E1196K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1196	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACATCTCCTCCTTGTTCAGT	0.388000													21	84					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:35910596C>T	ENST00000397367.2	-	3	313	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323000													12	35					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385729	21385729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21385729C>T	ENST00000382932.2	-	2	440	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.E125K	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	125					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGATGTATTCGAGGAGAACA	0.607000													13	41					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156931484	156931484	+	Silent	SNP	G	G	A	rs36029227	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156931484G>A	ENST00000368194.3	-	14	2263	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	ARHGEF11_ENST00000361409.2_Silent_p.F368F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	368	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTTCTCCAGGAAAATATTCC	0.418000													11	88					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967197	106967197	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:106967197C>T	ENST00000390622.2	-	0	506																											GTTGATTATTCCCATCCACTC	0.547000													26	110					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224482088	224482088	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:224482088G>A	ENST00000281701.6	-	12	1465	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	NVL_ENST00000469075.1_Silent_p.A311A|NVL_ENST00000482491.1_Silent_p.A126A|NVL_ENST00000340871.4_Silent_p.A213A|NVL_ENST00000391875.2_Silent_p.A296A|NVL_ENST00000361463.3_Silent_p.A296A	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	402						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTAGGACCCGGGCTGTAGCAG	0.463000													17	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465769	179465769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179465769C>T	ENST00000589042.1	-	288	56086	c.55862G>A	c.(55861-55863)tGg>tAg	p.W18621*	TTN_ENST00000342175.6_Nonsense_Mutation_p.W9748*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9556*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9681*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16980*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W16053*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16980	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAGGGTCCCATGCAAGGCA	0.493000													7	118					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36215909	36215909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36215909C>T	ENST00000222270.7	+	10	3449	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L	WBP7_ENST00000420124.1_Missense_Mutation_p.P1150L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					GCCCCTGGCCCCTTTGCTTCT	0.592000													11	50					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967335	41967335	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:41967335C>T	ENST00000298919.7	+	10	2362	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	PDZRN4_ENST00000539469.2_Silent_p.I660I|PDZRN4_ENST00000402685.2_Silent_p.I918I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	918							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCTTAAAGATCAAGGAAGAGC	0.517000													4	71					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363414	22363414	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22363414C>T	ENST00000397121.2	-	3	1422	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATCCTTCACATTTG	0.393000													10	80					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104081839	104081839	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:104081839G>A	ENST00000265148.3	-	21	2318	c.2229C>T	c.(2227-2229)gtC>gtT	p.V743V	CENPE_ENST00000380026.3_Silent_p.V718V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	743					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAAGCAAAATGACTTCTTCCC	0.318000													11	52					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077107	19077107	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:19077107G>A	ENST00000329773.2	-	2	930	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	281					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAGAGCCCACGAAGAAGTAAA	0.498000													8	69					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039095	11039095	+	RNA	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:11039095T>C	ENST00000470054.1	-	0	1108									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCCTTTTCTCCTTGTAGCC	0.403000													6	357					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246231	110246231	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:110246231G>A	ENST00000418703.2	-	2	523	c.429C>T	c.(427-429)ccC>ccT	p.P143P	TRPV4_ENST00000261740.2_Silent_p.P143P|TRPV4_ENST00000392719.2_Silent_p.P143P|TRPV4_ENST00000536838.1_Silent_p.P109P|TRPV4_ENST00000346520.2_Silent_p.P143P|TRPV4_ENST00000537083.1_Silent_p.P143P|TRPV4_ENST00000541794.1_Silent_p.P143P|TRPV4_ENST00000544971.1_Silent_p.P143P	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	143					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAGGATGGGGGGCGGCTGAG	0.637000													11	60					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952563	44952563	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:44952563G>A	ENST00000296125.4	+	12	1788	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	574					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAGTCTAAGGAAATCATGGC	0.468000													20	66					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747642	141747642	+	Silent	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:141747642A>T	ENST00000475668.2	+	22	2610	c.2556A>T	c.(2554-2556)ggA>ggT	p.G852G	MGAM_ENST00000549489.2_Silent_p.G852G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	852	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCAAAAGGAGAACTTTTCT	0.453000													7	29					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157183325	157183325	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:157183325C>T	ENST00000339562.4	-	6	1628	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	NR4A2_ENST00000409108.2_Silent_p.E422E|NR4A2_ENST00000426264.1_Silent_p.E359E|NR4A2_ENST00000429376.1_Silent_p.E359E|NR4A2_ENST00000409572.1_Silent_p.E422E|NR4A2_ENST00000539077.1_Silent_p.E433E	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	422	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAGGGATCTTCTCTGCCCAGC	0.493000													28	191					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451302	70451302	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:70451302T>C	ENST00000373644.4	+	12	6351	c.6142T>C	c.(6142-6144)Ttt>Ctt	p.F2048L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2048					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCCCTTGTCTTTTACCAGCA	0.468000													17	54					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222291222	222291222	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:222291222A>G	ENST00000281821.2	-	16	2849	c.2808T>C	c.(2806-2808)ggT>ggC	p.G936G	EPHA4_ENST00000392071.4_Silent_p.G885G|EPHA4_ENST00000409854.1_Silent_p.G936G|EPHA4_ENST00000409938.1_Silent_p.G936G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	936	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTGTGGTATAACCAGCAGCTG	0.438000													14	59					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733376	21733376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:21733376G>A	ENST00000261195.2	-	2	457	c.203C>T	c.(202-204)cCa>cTa	p.P68L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	68					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCAAAATATGGACCTATCAG	0.413000													26	133					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083219	66083219	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:66083219G>A	ENST00000311330.3	-	1	1296	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	427	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGCCAGGTGGGCTCCGGGTA	0.657000													19	181					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397421	69397421	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:69397421G>A	ENST00000303714.4	+	14	1411	c.1089_splice	c.e14+1	p.E363_splice	ANTXR1_ENST00000409349.3_Splice_Site_p.E363_splice	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	363	Asp/Glu-rich (highly acidic).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGAGAGTGAGGTAAGTGACC	0.572000									Familial Infantile Hemangioma				9	47					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495589	27495589	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:27495589G>A	ENST00000356183.4	-	25	3959	c.3944C>T	c.(3943-3945)tCc>tTc	p.S1315F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1315F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1315						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGTCCAACGGAATGAGATGT	0.493000													23	72					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113580	55113580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:55113580G>A	ENST00000370862.3	+	2	703	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	123					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGGTTTTTTGGACAGTCCCT	0.428000													55	258					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105927123	105927123	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:105927123C>T	ENST00000331320.7	+	10	989	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	MTA1_ENST00000406191.1_Missense_Mutation_p.H259Y|MTA1_ENST00000405646.1_Missense_Mutation_p.H242Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	259	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGATACTCTCCACAAGAACAT	0.627000													7	27					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99363184	99363184	+	Silent	SNP	C	C	T	rs56262026	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:99363184C>T	ENST00000408927.3	+	15	1853	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	RAP1GDS1_ENST00000453712.2_Silent_p.V580V|RAP1GDS1_ENST00000408900.3_Silent_p.V531V|RAP1GDS1_ENST00000380158.4_Silent_p.V532V|RAP1GDS1_ENST00000264572.7_Silent_p.V489V|RAP1GDS1_ENST00000339360.5_Silent_p.V581V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	580							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTAGATGTCGTATCCAAAC	0.423000			T	NUP98	T-ALL								12	34					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447646	24447646	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:24447646G>A	ENST00000270800.1	-	7	1412	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	458						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTGCTTCTTGGGATTCCTCCA	0.527000													15	75					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72026036	72026036	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:72026036G>T	ENST00000277942.5	-	2	126	c.119C>A	c.(118-120)tCc>tAc	p.S40Y		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	40						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CGCCACAGGGGAGGTGTGCTG	0.572000													8	25					0.0477658	0.0479197	1	1	0
OBP2B	29989	broad.mit.edu	37	9	136083586	136083586	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:136083586C>T	ENST00000372034.3	-	3	252	c.211G>A	c.(211-213)Gag>Aag	p.E71K	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	71					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CACCTATCCTCCCTCCTGGAA	0.627000													8	50					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542984	14542984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:14542984C>T	ENST00000358970.5	-	1	161	c.162G>A	c.(160-162)atG>atA	p.M54I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	54										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATCTTCATAAAGGAGT	0.592000													36	326					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280408	32280408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32280408C>T	ENST00000360482.2	-	2	656	c.527G>A	c.(526-528)gGg>gAg	p.G176E	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G176E|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G176E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	176					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCTGTCACACCCTGGAGAACT	0.607000													28	88					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262420	158262420	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158262420C>T	ENST00000368170.3	+	4	924	c.645C>T	c.(643-645)agC>agT	p.S215S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	215	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTCGCCCCAGCCTTGGGTCTG	0.527000													17	60					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	175094055	175094055	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:175094055G>T	ENST00000284719.3	-	3	472	c.226C>A	c.(226-228)Caa>Aaa	p.Q76K	OLA1_ENST00000344357.5_5'UTR|OLA1_ENST00000409546.1_Missense_Mutation_p.Q96K|OLA1_ENST00000428402.2_Missense_Mutation_p.Q76K	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	76	G.				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTGTGGTATTGACAAAGAAAG	0.373000													3	57					1	1	1	1	0
CT62	196993	broad.mit.edu	37	15	71403623	71403623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:71403623C>T	ENST00000449977.2	-	4	784	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	THSD4_ENST00000355327.3_Intron|RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	93										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTTGACATTCCGTCTGGAAAC	0.493000													13	51					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5925962	5925962	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5925962G>A	ENST00000380094.5	-	4	1200	c.657C>T	c.(655-657)gaC>gaT	p.D219D	ANKRD16_ENST00000191063.8_Silent_p.D219D|ANKRD16_ENST00000380092.4_Silent_p.D219D	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	219										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCCTAGCGACGTCGATGTGCC	0.463000													5	56					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011587	176011587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:176011587G>A	ENST00000510636.1	+	19	2579	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	CDHR2_ENST00000506348.1_Missense_Mutation_p.E769K|CDHR2_ENST00000261944.5_Missense_Mutation_p.E769K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	769	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGGATTACGAGACACAGCC	0.602000													9	86					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680278	114680278	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114680278A>G	ENST00000393296.1	-	3	987	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	SYT6_ENST00000369547.1_Missense_Mutation_p.Y219H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	304	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCCTCATAGGGCACAGGG	0.567000													3	55					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132239014	132239014	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:132239014A>G	ENST00000261674.4	+	9	1565	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E475G	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	475					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGAAGTTCGAGACCAGTGTT	0.512000													16	49					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183696314	183696314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:183696314C>T	ENST00000334444.6	-	9	1513	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	ABCC5_ENST00000265586.6_Missense_Mutation_p.G425S|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	425	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGATCGAAGCCCAGGGTCATA	0.512000													14	56					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418559	122418559	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:122418559T>C	ENST00000474629.2	+	6	1424	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGCAGGCAGATACTTCCACAA	0.443000													23	134					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698702	187698702	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:187698702G>A	ENST00000295131.2	-	6	838	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	267					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGGGAAAGATGGCAGCAGCTA	0.358000													8	95					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399080	57399080	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:57399080C>T	ENST00000543257.1	-	11	1890	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	C8B_ENST00000535057.1_Missense_Mutation_p.E432K|C8B_ENST00000371237.4_Missense_Mutation_p.E494K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	494	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGAACTCCTCCAGTGCCTGC	0.527000													7	63					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147133	72147133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:72147133G>A	ENST00000305425.4	-	4	1566	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P434S|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	432	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCATAAAAGGAAGTTCCAGT	0.398000													5	54					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94218045	94218045	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94218045C>T	ENST00000415788.2	-	11	1449		c.e11-1		SGCE_ENST00000265735.7_Splice_Site|SGCE_ENST00000428696.2_Splice_Site|SGCE_ENST00000445866.2_Splice_Site|SGCE_ENST00000437425.2_Splice_Site|SGCE_ENST00000447873.1_Splice_Site			O43556	SGCE_HUMAN	sarcoglycan, epsilon						cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGCAAGTTCCTAGAAATGAT	0.333000													19	101					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653121	18653121	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:18653121G>A	ENST00000308799.4	+	3	976	c.757G>A	c.(757-759)Gat>Aat	p.D253N	FBXW10_ENST00000395667.1_Missense_Mutation_p.D253N|FBXW10_ENST00000395665.4_Missense_Mutation_p.D253N|FBXW10_ENST00000301938.4_Missense_Mutation_p.D253N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	253										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCCAGGGTACGATCCCTGCAA	0.483000													11	169					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340703	151340703	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:151340703G>A	ENST00000435071.1	-	5	723	c.261C>T	c.(259-261)tcC>tcT	p.S87S	SELENBP1_ENST00000368868.5_Silent_p.S151S|SELENBP1_ENST00000447402.3_Silent_p.S89S|SELENBP1_ENST00000426705.2_Silent_p.S193S|SELENBP1_ENST00000473693.1_5'UTR			Q13228	SBP1_HUMAN	selenium binding protein 1	151					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGTCTCCCAGGGAGCTGATCA	0.552000													57	214					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943421	49943421	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:49943421G>A	ENST00000257981.6	+	9	1926	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	556					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.E556K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGACACCACCGAGGTGCGGCC	0.592000													3	14					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:102955354G>A	ENST00000311734.2	+	3	458	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000393393.3_Missense_Mutation_p.G40E			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	40	Ig-like C2-type 1.				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						CCTAGACAAGGAAAACCTAGT	0.383000													6	86					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304404	115304404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:115304404G>A	ENST00000371906.4	+	3	1061	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	291					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAATAGCTGCGAAGTTATAGC	0.488000													35	70					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727918	7727918	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:7727918C>T	ENST00000454689.1	-	0	23				RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA|RP11-35J10.4_ENST00000527443.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GTAGTAAAATCAGCTTGTTCC	0.358000													4	5					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944168	39944168	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:39944168C>T	ENST00000281961.2	+	4	727	c.671C>T	c.(670-672)tCc>tTc	p.S224F	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		TGCACCATTTCCCTCTGTACT	0.413000													16	139					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142488820	142488820	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:142488820G>A	ENST00000430863.1	-	0	1221					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCGTATGCCAGGAGGATGGTG	0.637000													8	17					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	G	A	rs144866823		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43679591G>A	ENST00000404580.1	-	4	828	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG5_ENST00000599812.1_Missense_Mutation_p.S340L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.S247L|PSG5_ENST00000342951.6_Missense_Mutation_p.S247L|PSG5_ENST00000407356.1_Missense_Mutation_p.S247L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000													34	257					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121867834	121867834	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:121867834G>A	ENST00000392464.2	+	7	1130	c.1060_splice	c.e7-1	p.R354_splice	KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	8					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCTCCGACAGGAATGTCTTCT	0.463000													4	29					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107299020	107299020	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:107299020G>A	ENST00000374781.2	-	1	117	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTGCTTTCAGGAAATCAAAAG	0.348000													8	37					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179364291	179364291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:179364291C>T	ENST00000367618.3	+	11	1450	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	AXDND1_ENST00000457238.2_Missense_Mutation_p.H355Y|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	355										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAAAAAGCCCACAAGGATTT	0.353000													35	192					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141175	143141175	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143141175C>T	ENST00000332690.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	210					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGTCTTTTTCATTTGCATGA	0.453000													36	153					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7175566	7175566	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:7175566C>T	ENST00000217961.4	+	4	554	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	112					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGGAGGACTTCCCACCGATGA	0.473000									Ichthyosis				17	40					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026497	79026497	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:79026497G>A	ENST00000446378.2	+	2	1940	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	637	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGAATGAGGAATTTGAGGC	0.463000													9	50					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29634018	29634018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29634018C>T	ENST00000376894.4	+	3	644	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	MOG_ENST00000376898.3_Missense_Mutation_p.L176F|MOG_ENST00000483013.1_Missense_Mutation_p.L60F|MOG_ENST00000396704.3_Missense_Mutation_p.L176F|MOG_ENST00000431798.2_Missense_Mutation_p.L176F|MOG_ENST00000416766.2_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.L176F|MOG_ENST00000376888.2_Missense_Mutation_p.L60F|MOG_ENST00000376917.3_Missense_Mutation_p.L176F|MOG_ENST00000376891.4_Missense_Mutation_p.L176F|MOG_ENST00000490427.1_Missense_Mutation_p.L60F|MOG_ENST00000494692.1_Missense_Mutation_p.L176F|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	176					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCTCATCTTCCTCTGCCTGCA	0.542000													45	216					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15532109	15532109	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:15532109G>A	ENST00000578237.1	-	11	2370	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Silent_p.I505I|TRIM16_ENST00000416464.2_Silent_p.I375I|TRIM16_ENST00000577886.1_Silent_p.I289I|RP11-385D13.1_ENST00000455584.2_Intron					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		AGAAGGAAAGGATCCCTCCCG	0.522000													10	93					0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21807538	21807538	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:21807538T>C	ENST00000396076.1	-	2	400	c.68A>G	c.(67-69)aAg>aGg	p.K23R	LDHB_ENST00000350669.1_Missense_Mutation_p.K23R	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	23					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TACAGTGATCTTATTGTTTGG	0.413000													39	144					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508285	38508285	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38508285G>A	ENST00000332509.3	-	17	2487	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	PLA2G6_ENST00000335539.3_Silent_p.I714I|PLA2G6_ENST00000402064.1_Silent_p.I714I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	768					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CATCCAGCATGATGTCCGTCC	0.622000													12	53					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325207	31325207	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:31325207C>T	ENST00000269197.5	+	12	5395	c.5395C>T	c.(5395-5397)Ccg>Tcg	p.P1799S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGTTGAAATTCCGCCCAGCTC	0.498000													25	93					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27462274	27462274	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:27462274G>A	ENST00000358918.3	-	3	539	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	APP_ENST00000448388.2_Missense_Mutation_p.P79S|APP_ENST00000346798.3_Missense_Mutation_p.P114S|APP_ENST00000440126.3_Missense_Mutation_p.P109S|APP_ENST00000439274.2_Missense_Mutation_p.P58S|APP_ENST00000359726.3_Missense_Mutation_p.P114S|APP_ENST00000357903.3_Missense_Mutation_p.P114S|APP_ENST00000354192.3_Missense_Mutation_p.P58S|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.P114S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	114					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAGCGGTAGGGAATCACAAAG	0.572000													19	121					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064844	63064844	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:63064844C>T	ENST00000544661.1	+	4	539	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.F192F|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	192						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGCTGCCTTCGCTCCCACCT	0.428000													34	113					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222651	140222651	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140222651C>A	ENST00000531613.1	+	1	1745	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582Q|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1												p.P582Q(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGCCGCGGTCTGTG	0.677000													12	75					3.27435e-08	3.31968e-08	1	1	0
IFT172	26160	broad.mit.edu	37	2	27703012	27703012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27703012G>A	ENST00000260570.3	-	9	893	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	IFT172_ENST00000359466.6_Missense_Mutation_p.R264W|IFT172_ENST00000416524.2_Missense_Mutation_p.R243W	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	264					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGAACACCCGAAGCCTGAAA	0.453000													4	46					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023143	39023143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39023143G>A	ENST00000355481.4	+	76	11271	c.11140G>A	c.(11140-11142)Gat>Aat	p.D3714N	RYR1_ENST00000360985.3_Missense_Mutation_p.D3719N|RYR1_ENST00000359596.3_Missense_Mutation_p.D3719N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3719					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)	ACTGGATGAGGATTACCTGTA	0.572000													14	65					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340704	151340704	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:151340704G>A	ENST00000435071.1	-	5	722	c.260C>T	c.(259-261)tCc>tTc	p.S87F	SELENBP1_ENST00000368868.5_Missense_Mutation_p.S151F|SELENBP1_ENST00000447402.3_Missense_Mutation_p.S89F|SELENBP1_ENST00000426705.2_Missense_Mutation_p.S193F|SELENBP1_ENST00000473693.1_5'UTR			Q13228	SBP1_HUMAN	selenium binding protein 1	151					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTCCCAGGGAGCTGATCAT	0.552000													56	216					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146818	72146818	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:72146818G>A	ENST00000356056.5	-	35	6718	c.6246C>T	c.(6244-6246)ctC>ctT	p.L2082L	MYO9A_ENST00000444904.1_Silent_p.L2063L|MYO9A_ENST00000424560.1_Silent_p.L2153L|MYO9A_ENST00000564571.1_Silent_p.L2082L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2082	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTAGTTTATGAGCTTTTCCA	0.413000													15	145					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473497	56473497	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:56473497G>A	ENST00000291971.3	+	4	2178	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D703N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	703						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)		TGCAACGAATGATAAGCTGGA	0.512000													12	175					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654807	247654807	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:247654807C>T	ENST00000522351.1	+	0	438							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGTGGCCGTCTGCCGGTCCC	0.587000													24	143					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444977	103444977	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:103444977G>A	ENST00000358392.2	-	32	2924	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	COL11A1_ENST00000370096.3_Silent_p.F857F|COL11A1_ENST00000353414.4_Silent_p.F818F|COL11A1_ENST00000512756.1_Silent_p.F741F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	857	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAACCCAGGGAATCCAGTGG	0.343000													11	43					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314304	48314304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:48314304C>T	ENST00000435803.1	+	17	5065	c.5041C>T	c.(5041-5043)Cag>Tag	p.Q1681*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1681					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGTGGATCAGCTTGAACA	0.393000													23	129					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140227224	140227224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140227224G>A	ENST00000275884.6	-	14	2816	c.2399C>T	c.(2398-2400)cCg>cTg	p.P800L	DENND2A_ENST00000496613.1_Missense_Mutation_p.P800L|DENND2A_ENST00000537639.1_Missense_Mutation_p.P800L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	800	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGCAGCACCGGGATGTAGGT	0.662000													3	13					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551987	178551987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:178551987C>T	ENST00000251582.7	-	19	3046	c.2945G>A	c.(2944-2946)gGg>gAg	p.G982E		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	982	TSP type-1 4.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGACCAGGGCCCGGCTCGCCA	0.692000													10	58					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045210	55045210	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55045210C>T	ENST00000335056.3	+	3	368	c.330C>T	c.(328-330)tcC>tcT	p.S110S																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGAGCAACTCCCTGAAGATCA	0.552000													12	58					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327804	48327804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:48327804C>T	ENST00000428869.2	-	7	758	c.500G>A	c.(499-501)tGg>tAg	p.W167*	MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000398439.3_Nonsense_Mutation_p.W167*|MRO_ENST00000256425.2_Nonsense_Mutation_p.W167*|MRO_ENST00000436348.2_Nonsense_Mutation_p.W181*			Q9BYG7	MSTRO_HUMAN	maestro	167						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AAATTTTTTCCATTTCCTCCC	0.468000													12	89					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	605665	605665	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:605665C>T	ENST00000264555.5	+	12	1523	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	PHRF1_ENST00000533464.1_Silent_p.S461S|PHRF1_ENST00000413872.2_Silent_p.S463S|PHRF1_ENST00000416188.2_Silent_p.S464S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	465							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGCTCTGTCCCGGTCAGCCC	0.637000													17	87					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832784	42832784	+	Missense_Mutation	SNP	C	C	T	rs149708370		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:42832784C>T	ENST00000314073.5	+	13	3016	c.2840C>T	c.(2839-2841)tCg>tTg	p.S947L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S947L					GLTSCR1-like																		TCATCCAGATCGGATCATGGT	0.532000													20	75					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150437966	150437966	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150437966G>A	ENST00000358647.3	+	2	361		c.e2-1		GIMAP5_ENST00000479556.1_Intron	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTATTCCAGGAGAGAATGG	0.438000													16	78					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786616	160786616	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160786616G>A	ENST00000263285.5	+	5	1335	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	LY9_ENST00000368041.2_Intron|LY9_ENST00000368035.1_Silent_p.R87R|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Silent_p.R87R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	435	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTCAGCAGGAGTTCCCACC	0.498000													23	115					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597537	136597537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:136597537C>T	ENST00000531224.1	-	5	1378	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E376K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E374K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E374K|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E374K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	376					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCTGATCTTCCCATTCTCCC	0.423000													20	331					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248028	5248028	+	Splice_Site	SNP	G	G	A	rs63749977		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5248028G>A	ENST00000335295.3	-	2	269	c.92_splice	c.e2-1	p.L32_splice		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	32			L -> P (in Yokohama; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCACCAGCAGCCTAAGGGTG	0.512000									Sickle Cell Trait				5	38					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998119	89998119	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:89998119A>T	ENST00000428670.3	-	16	2903	c.2447T>A	c.(2446-2448)aTt>aAt	p.I816N	ATP2B1_ENST00000348959.3_Missense_Mutation_p.I816N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I816N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I559N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I816N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	816					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AGTTCCAGCAATACCCTGTTA	0.294000													3	31					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	G	A	rs139007213		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:35085113G>A	ENST00000601241.1	-	3	2313	c.213C>T	c.(211-213)tcC>tcT	p.S71S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region	binding										TTTCTGTCACGGAGACATTGG	0.542000													27	82					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737025	46737025	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:46737025C>T	ENST00000396533.1	-	4	435	c.185G>A	c.(184-186)gGa>gAa	p.G62E	COX7B2_ENST00000543208.1_Missense_Mutation_p.G61E|COX7B2_ENST00000355591.3_Missense_Mutation_p.G62E|COX7B2_ENST00000302930.5_Missense_Mutation_p.G62E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	62						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CCATTCTATTCCAATCTGAGT	0.408000													19	89					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919415	227919415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:227919415C>T	ENST00000396625.3	-	31	2962	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E919K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	919	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTCCTCTTTCTCCGGGAAAA	0.517000													4	33					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209041	34209041	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:34209041G>A	ENST00000373381.4	-	14	2189	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	631	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGACCAGGAAATCAAACT	0.617000													9	103					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341278	42341278	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42341278G>A	ENST00000330743.3	-	5	1891	c.680C>T	c.(679-681)tCc>tTc	p.S227F	LYPD4_ENST00000343055.4_Missense_Mutation_p.S192F|LYPD4_ENST00000601246.1_Missense_Mutation_p.S192F	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	227						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TTGCCTGGAGGATGCTGCACC	0.493000													20	103					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365738	97365738	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:97365738C>T	ENST00000415431.1	-	8	1171	c.942G>A	c.(940-942)agG>agA	p.R314R	FBP1_ENST00000375326.4_Silent_p.R314R	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	314					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TCACCGGCGCCCTCTGGTGAA	0.602000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	48					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48542773	48542773	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:48542773G>A	ENST00000378654.3	-	6	815	c.759C>T	c.(757-759)acC>acT	p.T253T	SUCLA2_ENST00000544100.1_Silent_p.T119T|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.T195T|SUCLA2_ENST00000543413.1_Silent_p.T195T	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	253	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTTCTATCATGGTTGCATCGT	0.368000													5	49					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134405904	134405904	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:134405904G>A	ENST00000372215.4	-	2	330	c.237C>T	c.(235-237)gcC>gcT	p.A79A	UCK1_ENST00000372208.3_Silent_p.A79A|UCK1_ENST00000372210.3_Silent_p.A70A|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Silent_p.A84A	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	79					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCCTTTCAAGGCCTTGGCCT	0.587000													26	90					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040441	128040441	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:128040441G>A	ENST00000338791.6	-	8	1082	c.732C>T	c.(730-732)acC>acT	p.T244T	IMPDH1_ENST00000378717.4_Silent_p.T175T|IMPDH1_ENST00000470772.1_Silent_p.T158T|IMPDH1_ENST00000480861.1_Silent_p.T154T|IMPDH1_ENST00000343214.4_Silent_p.T134T|IMPDH1_ENST00000419067.2_Silent_p.T211T|IMPDH1_ENST00000348127.6_Silent_p.T208T|IMPDH1_ENST00000354269.5_Silent_p.T234T|IMPDH1_ENST00000496200.1_Silent_p.T134T	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	159					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TGTCTCGGGAGGTGACGATGC	0.617000													3	28					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579624	140579624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140579624G>A	ENST00000354757.3	+	1	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		93	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTAGACAGGGAGGAGCTCTG	0.493000													11	96					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370322	25370322	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:25370322T>A	ENST00000255324.5	+	11	1340	c.1288T>A	c.(1288-1290)Ttc>Atc	p.F430I	RNF17_ENST00000255325.5_Missense_Mutation_p.F431I|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.F430I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	430					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCTTGCCATTTCTACATTCG	0.348000													10	71					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178371	47178371	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:47178371C>T	ENST00000447411.1	-	6	653	c.447G>A	c.(445-447)ccG>ccA	p.P149P	SLC38A4_ENST00000266579.4_Silent_p.P149P	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	149					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.P149P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAATTTTTCCCGGCCATCCAA	0.333000													9	41					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193408	28193408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:28193408C>T	ENST00000302326.4	-	1	4078	c.3124G>A	c.(3124-3126)Ggt>Agt	p.G1042S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1042							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGAACTCACCCACGTTTGGC	0.627000			T	ETV6	"""AML, meningioma"""								5	149					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963057	36963057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:36963057G>A	ENST00000225428.4	-	7	1160	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CWC25_ENST00000536127.1_Missense_Mutation_p.S225F	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	288										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TCTGCCCAGGGATCGAGACCT	0.587000													5	53					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116225054	116225054	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:116225054C>T	ENST00000355485.2	+	5	1153	c.882C>T	c.(880-882)ctC>ctT	p.L294L	VANGL1_ENST00000310260.3_Silent_p.L294L|VANGL1_ENST00000369509.1_Silent_p.L294L|VANGL1_ENST00000369510.3_Silent_p.L292L|VANGL1_ENST00000474344.1_3'UTR	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	294					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCCAAACCTCCTAACAGCCT	0.443000													16	68					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131984449	131984449	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:131984449G>A	ENST00000356920.5	+	4	958	c.864G>A	c.(862-864)gtG>gtA	p.V288V	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.V298V|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	288							ATP binding										AGCAAGTCGTGAAATTTTTAA	0.338000													7	184					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968304	134968304	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:134968304C>T	ENST00000398015.3	+	15	3187	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S	EPHB1_ENST00000493838.1_Silent_p.S500S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	939	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTCACCTCCCTCCAGCTGG	0.552000													24	155					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846721	178846721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:178846721G>A	ENST00000367635.3	+	9	1034	c.696G>A	c.(694-696)atG>atA	p.M232I	RALGPS2_ENST00000324778.4_Missense_Mutation_p.M197I|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.M232I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	232	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAATTTAATGAATAATATCC	0.338000													12	53					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56101443	56101443	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56101443G>A	ENST00000257880.7	-	1	243	c.24C>T	c.(22-24)gaC>gaT	p.D8D	ITGA7_ENST00000555728.1_Silent_p.D8D|ITGA7_ENST00000553804.1_Silent_p.D8D|ITGA7_ENST00000347027.6_Silent_p.D8D|ITGA7_ENST00000257879.6_Silent_p.D8D|ITGA7_ENST00000394230.2_Silent_p.D8D|ITGA7_ENST00000394229.2_Silent_p.D8D|ITGA7_ENST00000452168.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	8					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCCAAGGGTCGCGGCTCC	0.662000													3	6					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785182	8785182	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:8785182C>T	ENST00000447110.1	-	16	2346	c.2222G>A	c.(2221-2223)cGa>cAa	p.R741Q	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R741Q|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R740Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	741	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAGCGACTTCGTCCACTGAT	0.612000													9	35					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123333000	123333000	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:123333000C>T	ENST00000360772.3	-	34	5922	c.5544G>A	c.(5542-5544)gtG>gtA	p.V1848V	MYLK_ENST00000359169.1_Silent_p.V1848V|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.V139V|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Silent_p.V1899V|MYLK_ENST00000418370.2_Silent_p.V139V|MYLK_ENST00000360304.3_Silent_p.V1899V|MYLK_ENST00000346322.5_Silent_p.V1830V|MYLK_ENST00000578202.1_Silent_p.V138V|MYLK_ENST00000354792.5_Silent_p.V699V			Q15746	MYLK_HUMAN	myosin light chain kinase	1899	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCATCGTTTCCACAATGAGCT	0.453000													42	206					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815688	105815688	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105815688C>T	ENST00000353479.5	-	18	1829	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.G513G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	513	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATGCTGTCCCCATAGGGCA	0.592000													39	135					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545869	179545869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179545869C>T	ENST00000589042.1	-	138	33501	c.33277G>A	c.(33277-33279)Gaa>Aaa	p.E11093K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10776K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9849K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10776	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTATTTTTTCCTCAAAAACT	0.318000													4	23					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73188368	73188368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:73188368G>A	ENST00000410065.1	-	11	653	c.635C>T	c.(634-636)tCc>tTc	p.S212F	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000272433.2_Silent_p.L279L			Q8TD22	SFXN5_HUMAN	sideroflexin 5	0					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GTGCCTGCAGGAGAGCCGTCC	0.687000													5	29					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15311315	15311315	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:15311315C>T	ENST00000383791.3	-	4	620	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	134					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GAGATGGTCTCCTTGGCGGCA	0.607000													41	222					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871143	39871143	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:39871143C>T	ENST00000502986.2	+	10	1060	c.818C>T	c.(817-819)cCc>cTc	p.P273L	IDO2_ENST00000389060.4_Missense_Mutation_p.P260L|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	260					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCCAAGAGCCCCTGAAATAC	0.502000													18	91					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823576	45823576	+	Splice_Site	SNP	G	G	A	rs141869919	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:45823576G>A	ENST00000358525.4	-	2	376	c.262_splice	c.e2+1	p.V87_splice	SLC6A20_ENST00000456124.2_Splice_Site_p.V87_splice|SLC6A20_ENST00000353278.4_Splice_Site_p.V87_splice	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	87					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCACGTACCGACACCACTGA	0.662000													5	14					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51200372	51200372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:51200372C>T	ENST00000293441.1	-	14	1963	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.D649N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	649					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)		CCAATCCCATCCATTAAGCTT	0.647000													16	224					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093772	1093772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:1093772C>T	ENST00000441003.2	+	30	5618	c.5591C>T	c.(5590-5592)tCc>tTc	p.S1864F	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.S152F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1878						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTCTCGGTCCACCTCTTCC	0.627000													42	384					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421988	62421988	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62421988G>A	ENST00000245663.4	-	2	273	c.123C>T	c.(121-123)gtC>gtT	p.V41V	ZBTB46_ENST00000302995.2_Silent_p.V41V|ZBTB46_ENST00000395104.1_Silent_p.V41V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	41	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGCCTTGAAGACCTTGCCCT	0.637000													12	64					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261757	122261757	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:122261757G>A	ENST00000334010.7	-	5	1303	c.882C>T	c.(880-882)ccC>ccT	p.P294P	CADPS2_ENST00000412584.2_Silent_p.P294P|CADPS2_ENST00000313070.7_Silent_p.P294P|CADPS2_ENST00000449022.2_Silent_p.P294P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	294					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTATAAATTTGGGGAATTTTC	0.274000													6	27					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7049150	7049150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:7049150G>A	ENST00000381309.3	+	17	2939	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	KDM4C_ENST00000543771.1_Missense_Mutation_p.E792K|KDM4C_ENST00000428870.2_Missense_Mutation_p.E479K|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.E537K|KDM4C_ENST00000535193.1_Missense_Mutation_p.E814K|KDM4C_ENST00000381306.3_Missense_Mutation_p.E792K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	792					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TAATGTCCCAGAAAGGACACA	0.403000													17	52					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654785	161654785	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161654785G>A	ENST00000426558.1	-	0	257					NR_002595.1																						CTTTGGCCCAGACAGCTTTGT	0.483000													5	22					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803270	67803270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67803270C>A	ENST00000422365.2	+	10	1415	c.1244C>A	c.(1243-1245)tCa>tAa	p.S415*	MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.S415*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.S415*|MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.S352*	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	415					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GACTTGGCTTCACACAAAAAA	0.373000													11	72					9.31168e-06	9.4023e-06	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156390187	156390187	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156390187A>T	ENST00000274532.2	-	1	79	c.23T>A	c.(22-24)cTc>cAc	p.L8H	TIMD4_ENST00000407087.3_Missense_Mutation_p.L8H	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	8						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCAGCCAGAGAATGAGAGG	0.443000													17	96					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189449114	189449114	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:189449114T>C	ENST00000409580.1	+	11	1446	c.732T>C	c.(730-732)agT>agC	p.S244S	GULP1_ENST00000409830.1_Silent_p.S244S|GULP1_ENST00000359135.3_Silent_p.S244S|GULP1_ENST00000409805.1_Silent_p.S141S|GULP1_ENST00000409843.1_Silent_p.S244S|GULP1_ENST00000409609.1_Silent_p.S244S			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	244					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAGTACCTAGTAGATCTACTG	0.373000													10	76					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357837	56357837	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:56357837G>A	ENST00000370754.5	-	84	20351	c.20352C>T	c.(20350-20352)ctC>ctT	p.L6784L	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.L6606L|DST_ENST00000370788.2_Silent_p.L4409L|DST_ENST00000361203.3_Silent_p.L6495L|DST_ENST00000421834.2_Silent_p.L4518L|DST_ENST00000446842.2_Silent_p.L6280L|DST_ENST00000244364.6_Silent_p.L4192L			Q03001	DYST_HUMAN	dystonin	6604					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAGTCTTGGAGAGAATTGT	0.428000													5	25					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													26	74					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015505	19015505	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:19015505G>A	ENST00000406451.3	+	25	3240	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	HDAC9_ENST00000441542.2_Silent_p.E1033E|HDAC9_ENST00000401921.1_Silent_p.E989E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCAAGAGGAGACAGAGACCG	0.522000													9	63					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370393	50370393	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:50370393G>A	ENST00000322344.3	-	2	178	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PNKP_ENST00000600910.1_Silent_p.F23F|PNKP_ENST00000596014.1_Silent_p.F23F|PNKP_ENST00000600573.1_Silent_p.F23F|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	23					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCGAGGGCAGGAAGATGGGGG	0.711000								Other BER factors					11	43					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442629	25442629	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:25442629C>T	ENST00000424208.1	+	0	1605				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TCAGGCCCTTCCTGATGCCCT	0.597000													10	34					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471847	50471847	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:50471847C>T	ENST00000228468.4	+	5	1159	c.774C>T	c.(772-774)atC>atT	p.I258I	ASIC1_ENST00000552438.1_Silent_p.I292I|ASIC1_ENST00000447966.2_Silent_p.I258I	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	258					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTCCTTTCATCGACCAGCTGG	0.612000													35	172					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85928607	85928607	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:85928607C>T	ENST00000304195.3	-	7	858	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FRMD3_ENST00000376438.1_Missense_Mutation_p.E218K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E24K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	218	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E218K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGTAGGTTTCCAAAGTGTGA	0.463000													46	173					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157222	154157222	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:154157222C>T	ENST00000360256.4	-	14	5043	c.4843G>A	c.(4843-4845)Gat>Aat	p.D1615N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1615	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATGGTATCCTTTTTCTTA	0.413000													28	76					0	0	1	0	0
AC007040.8	0	broad.mit.edu	37	2	71256137	71256137	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71256137C>T	ENST00000434990.1	-	0	61																											GCAGCCCATCCTCGCTGGGCT	0.587000													6	31					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963089	96963089	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:96963089C>T	ENST00000389672.5	+	5	1602	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	EPHA6_ENST00000470610.2_Missense_Mutation_p.P522S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	427	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTTTTTCTCCCAAGCCATT	0.388000													20	118					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445475	54445475	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54445475C>T	ENST00000391767.1	+	6	968	c.756C>T	c.(754-756)atC>atT	p.I252I	CACNG7_ENST00000222212.2_Silent_p.I252I			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	252				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGTGTCCATCCAAATGACGC	0.687000													63	221					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505250	26505250	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:26505250C>T	ENST00000311151.5	+	11	1627	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	DPYSL2_ENST00000521913.1_Silent_p.S369S|DPYSL2_ENST00000523027.1_Silent_p.S369S	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	405					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTGTGGGATCCGATGCCGACC	0.537000													20	107					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230485	39230485	+	Missense_Mutation	SNP	C	C	T	rs145798293		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39230485C>T	ENST00000340369.3	-	2	680	c.452G>A	c.(451-453)gGa>gAa	p.G151E	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G151E	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	151							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACGAACGTCTCCTCCACCTGG	0.622000													10	72					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71787622	71787622	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:71787622A>G	ENST00000373556.3	-	5	513	c.462T>C	c.(460-462)ctT>ctC	p.L154L	HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000439122.2_Intron|HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000373554.1_3'UTR|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373561.4_Intron	NM_001166422.1	NP_001159894.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	0	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	ATGCCTTGTAAAGTGCCACAT	0.383000													26	41					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133914515	133914515	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:133914515G>A	ENST00000395003.1	+	11	2060	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	PHF15_ENST00000282605.4_Silent_p.K671K|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.K628K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		627	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCCAAGAAGACCTGGGGCC	0.657000													9	48					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140284901	140284901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:140284901G>A	ENST00000458420.3	+	17	2864	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	892	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGAAACATGAAGGACCAGG	0.488000										HNSCC(16;0.037)			7	35					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111685	111685	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:111685G>A	ENST00000262316.6	-	9	1360	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RHBDF1_ENST00000454039.2_Silent_p.F406F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	406					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCAGTAGGTGAAGAAGGGCC	0.672000													9	52					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70234911	70234911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:70234911C>T	ENST00000553521.1	+	3	1491	c.38C>T	c.(37-39)cCa>cTa	p.P13L	SRSF5_ENST00000451983.2_Missense_Mutation_p.P13L|SRSF5_ENST00000557154.1_Missense_Mutation_p.P13L|SRSF5_ENST00000553548.1_Missense_Mutation_p.P13L|SRSF5_ENST00000394366.2_Missense_Mutation_p.P13L|SRSF5_ENST00000553635.1_Missense_Mutation_p.P13L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000554021.1_Missense_Mutation_p.P13L|SRSF5_ENST00000555349.1_Missense_Mutation_p.P13L			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	13	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						AGACTAAATCCAGCGGCCAGG	0.428000													12	80					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49189956	49189956	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:49189956C>T	ENST00000406846.2	-	10	2123	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	FSHR_ENST00000541117.1_Silent_p.R404R|FSHR_ENST00000346173.3_Silent_p.R606R|FSHR_ENST00000304421.4_Silent_p.R642R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	668					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGTGGCCATTCCTTGGATGGG	0.438000									Gonadal Dysgenesis, 46 XX				11	72					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187841	152187841	+	Silent	SNP	G	G	A	rs144489730	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152187841G>A	ENST00000368801.2	-	3	6339	c.6264C>T	c.(6262-6264)tcC>tcT	p.S2088S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2088					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCGACCGGAGCCAGACC	0.622000													22	109					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563644	75563644	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:75563644G>A	ENST00000336257.3	-	3	2033	c.639C>T	c.(637-639)ccC>ccT	p.P213P	CHST5_ENST00000541075.1_Silent_p.P219P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	213					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.P213P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTTGAGCGCGGGGTCGCTGA	0.711000													25	70					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34858987	34858987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:34858987G>A	ENST00000431794.3	-	21	2552	c.2030C>T	c.(2029-2031)cCt>cTt	p.P677L	MYO19_ENST00000268852.9_Missense_Mutation_p.P477L	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	677	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGATGTGCAAGGATGAAGCCT	0.502000													23	273					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136772	80136772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:80136772C>T	ENST00000466387.1	+	11	1629	c.905C>T	c.(904-906)tCc>tTc	p.S302F	CTNNA2_ENST00000540488.1_Missense_Mutation_p.S302F|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S302F|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S302F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S336F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S302F			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	302					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCGGCCGTCCCTGGAGGAG	0.592000													9	82					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106822999	106822999	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:106822999C>T	ENST00000222574.4	+	3	537	c.351C>T	c.(349-351)atC>atT	p.I117I	HBP1_ENST00000468410.1_Silent_p.I117I|HBP1_ENST00000485846.1_Silent_p.I117I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	117					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGGCAAATATCGCGACCAGTC	0.373000													5	43					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618599	37618599	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:37618599A>C	ENST00000447079.4	+	1	308	c.275A>C	c.(274-276)gAc>gCc	p.D92A	CDK12_ENST00000430627.2_Missense_Mutation_p.D92A	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	92					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTCAAACTAGACCGAAGGGAG	0.527000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			8	52					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198363463	198363463	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:198363463C>T	ENST00000388968.3	-	2	377	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q|HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	37					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATTAAGGCTCGGGCATCTGC	0.463000													14	146					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148596539	148596539	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:148596539C>T	ENST00000506113.1	+	7	1169	c.687C>T	c.(685-687)taC>taT	p.Y229Y	ABLIM3_ENST00000508983.1_Silent_p.Y229Y|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.Y229Y|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Silent_p.Y229Y|ABLIM3_ENST00000326685.7_Silent_p.Y229Y|ABLIM3_ENST00000356541.3_Silent_p.Y229Y|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	229	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCACTACCACCCAACCT	0.517000													9	64					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35819948	35819948	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:35819948C>T	ENST00000423537.2	-	4	1061	c.792G>A	c.(790-792)cgG>cgA	p.R264R	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	264										endometrium(2)|kidney(1)|lung(4)	7						CATCCCCAATCCGGAAACAGT	0.512000													12	54					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045506	20045506	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:20045506C>T	ENST00000343769.5	+	4	1770	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	581						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GCAACCCTTTCTTCACATAAG	0.378000													15	53					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329565	152329565	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152329565C>T	ENST00000388718.5	-	3	769	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	233	Ser-rich.						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)			CCTTTCCTTTCCCAACTGTTT	0.438000													69	267					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703093	33703093	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:33703093A>C	ENST00000336934.5	-	5	1837	c.1721T>G	c.(1720-1722)gTa>gGa	p.V574G	STARD13_ENST00000399365.3_Missense_Mutation_p.V456G|STARD13_ENST00000255486.4_Missense_Mutation_p.V566G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	574					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGGCCCCTACACCAGAATC	0.453000													9	69					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205232	32205232	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32205232G>A	ENST00000373658.3	-	15	2513	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	BAI2_ENST00000527361.1_Silent_p.I724I|BAI2_ENST00000398556.3_Silent_p.I672I|BAI2_ENST00000398542.1_Silent_p.I657I|BAI2_ENST00000257070.4_Silent_p.I724I|BAI2_ENST00000440175.2_Silent_p.I366I|BAI2_ENST00000398547.1_Silent_p.I657I|BAI2_ENST00000373655.2_Silent_p.I724I|BAI2_ENST00000398538.1_Silent_p.I712I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	724					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGAATGCTGATCACTGCAG	0.607000													6	69					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767897	77767897	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77767897G>A	ENST00000521891.2	+	10	9188	c.8740G>A	c.(8740-8742)Gga>Aga	p.G2914R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2869R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2869R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2888R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2869						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATCCATTCGGATCCAGCAA	0.512000										HNSCC(33;0.089)			11	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582783	82582783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82582783C>T	ENST00000423517.2	-	5	7823	c.7486G>A	c.(7486-7488)Gga>Aga	p.G2496R	PCLO_ENST00000333891.8_Missense_Mutation_p.G2496R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2427					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATACAAGTCCAGATGGAATT	0.453000													16	89					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530690	20530690	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:20530690C>T	ENST00000504154.1	+	16	1833	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLIT2_ENST00000273739.5_Silent_p.I531I|SLIT2_ENST00000503823.1_Silent_p.I519I|SLIT2_ENST00000503837.1_Silent_p.I523I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	527	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCAACAAAATCCCGGAGCACA	0.443000													29	77					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255586	127255586	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:127255586C>T	ENST00000338516.3	-	2	13		c.e2-1		PAX4_ENST00000341640.2_5'UTR|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Splice_Site			O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCTGATCCCTGGGCGTGAG	0.637000													21	118					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358364	53358364	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:53358364G>A	ENST00000566029.1	+	39	8412	c.8203G>A	c.(8203-8205)Gaa>Aaa	p.E2735K	CHD9_ENST00000398510.3_Missense_Mutation_p.E2751K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2735K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2736K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2751					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAAGGAGTCAGAAGGAAAAAC	0.453000													11	56					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528735	57528735	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57528735G>A	ENST00000420713.1	+	4	680	c.568G>A	c.(568-570)Gat>Aat	p.D190N		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGTAAAAACGATGGCAAATC	0.328000													3	11					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72580713	72580713	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:72580713G>A	ENST00000287202.5	-	11	1508	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	CELF6_ENST00000567083.1_Silent_p.P391P|CELF6_ENST00000539635.1_Silent_p.P279P|CELF6_ENST00000543764.2_Silent_p.P281P|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.P305P|RP11-106M3.3_ENST00000570175.1_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	418	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CGGCTCCAAAGGGCAGGAATG	0.532000													22	147					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681006	3681006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:3681006G>A	ENST00000250693.1	+	3	358	c.257G>A	c.(256-258)tGg>tAg	p.W86*		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	86					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCAGCCAATGGCAGGAGCGT	0.647000													5	34					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825245	8825245	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:8825245C>T	ENST00000359865.3	+	15	3879	c.3737C>T	c.(3736-3738)tCc>tTc	p.S1246F	SOGA2_ENST00000400050.3_Missense_Mutation_p.S1205F|SOGA2_ENST00000517570.1_Missense_Mutation_p.S1205F|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1565F|SOGA2_ENST00000306285.7_Missense_Mutation_p.S571F|SOGA2_ENST00000518815.1_Missense_Mutation_p.S571F	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1556																	CCCAGGCACTCCCGGGACTAT	0.652000													9	23					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170243	36170243	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:36170243C>T	ENST00000335119.2	+	1	855	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	248					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACACCTCATCCCATACAACCC	0.522000													8	28					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332642	140332642	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:140332642G>A	ENST00000371506.2	-	2	279	c.96C>T	c.(94-96)gcC>gcT	p.A32A	ENTPD8_ENST00000344119.2_Silent_p.A32A|ENTPD8_ENST00000472938.1_Silent_p.A32A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	32						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCACGCTGGTGGCCTCCACCA	0.687000													3	12					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944934	55944934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55944934G>A	ENST00000312298.1	+	1	841	c.841G>A	c.(841-843)Ggg>Agg	p.G281R		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTATACGCTAGGGATTCCCAT	0.388000													6	55					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066996	46066996	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:46066996C>T	ENST00000334670.8	+	1	666	c.621C>T	c.(619-621)gtC>gtT	p.V207V	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	201	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTGTGCCTGTCTGCTCTAGGG	0.627000													31	338					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566302	41566302	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:41566302C>T	ENST00000396942.1	-	17	2075	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	ANK1_ENST00000396945.1_Silent_p.G664G|ANK1_ENST00000265709.8_Silent_p.G697G|ANK1_ENST00000379758.2_Silent_p.G664G|ANK1_ENST00000347528.4_Silent_p.G664G|ANK1_ENST00000289734.7_Silent_p.G664G|ANK1_ENST00000352337.4_Silent_p.G664G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	664	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTACCTTGTTCCCCAGGTTGC	0.567000													31	199					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788353	42788353	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:42788353C>T	ENST00000372980.3	-	2	1946	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	358					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTTGTTGCTCTTGAGCTGCA	0.662000													14	55					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87785249	87785249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:87785249C>T	ENST00000398204.4	+	22	2158	c.1835C>T	c.(1834-1836)cCa>cTa	p.P612L	ADAM22_ENST00000315984.7_Missense_Mutation_p.P612L|ADAM22_ENST00000398201.4_Missense_Mutation_p.P612L|ADAM22_ENST00000265727.7_Missense_Mutation_p.P612L|ADAM22_ENST00000398209.3_Missense_Mutation_p.P612L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	612	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAATATCCCAAGGCTTGGA	0.368000													25	154					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034718	150034718	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150034718C>T	ENST00000359623.4	+	3	1356	c.768C>T	c.(766-768)tcC>tcT	p.S256S	LRRC61_ENST00000323078.7_Silent_p.S256S|LRRC61_ENST00000493307.1_Silent_p.S256S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	256										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACCTCTTCCTTCGTCTTCT	0.657000													7	20					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446259	51446259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:51446259C>T	ENST00000298355.3	-	9	3037	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	TRIM9_ENST00000338969.5_Missense_Mutation_p.G720E	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	639	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGTGATCCCTCCCTCAGTTCT	0.433000													40	139					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462334	228462334	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228462334G>A	ENST00000570156.2	+	24	6944	c.6870G>A	c.(6868-6870)gaG>gaA	p.E2290E	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Silent_p.E1915E|OBSCN_ENST00000422127.1_Silent_p.E1915E|OBSCN_ENST00000359599.6_Silent_p.E762E|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1275	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCGGCGAGGCCACCTTCC	0.627000													3	31					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075655	84075655	+	Silent	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:84075655G>C	ENST00000299709.3	-	1	107	c.108C>G	c.(106-108)tcC>tcG	p.S36S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	36					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCAGCGCGGACTTCATGA	0.637000													12	143					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434207	10434207	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:10434207G>A	ENST00000293677.6	-	4	924	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	264	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCAGCACCGCGAAGCCCTTCA	0.677000													14	76					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080544	54080544	+	Missense_Mutation	SNP	G	G	A	rs143007880		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54080544G>A	ENST00000253144.9	+	7	2063	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ZNF331_ENST00000449416.1_Missense_Mutation_p.E244K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E244K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E244K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E244K|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.E244K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E244K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAAGACTACGAATGCAAAGA	0.463000			T	?	follicular thyroid adenoma								15	75					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190011	58190011	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:58190011G>A	ENST00000302581.2	-	1	775	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAGTGAAGTGAGAGGCACAG	0.448000													16	44					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614885	55614885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55614885C>T	ENST00000326258.1	+	1	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGCAAGTTTCCCTCTTTATT	0.383000													27	166					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569480	51569480	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:51569480G>A	ENST00000522124.1	+	14	1522	c.861G>A	c.(859-861)atG>atA	p.M287I	SNTG1_ENST00000517473.1_Missense_Mutation_p.M287I|SNTG1_ENST00000518864.1_Missense_Mutation_p.M287I|SNTG1_ENST00000276467.5_Missense_Mutation_p.M287I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	287	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTGTCTACATGGGCTGGTGTG	0.423000													37	127					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200113	155200113	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155200113A>G	ENST00000460012.1	-	23	3969	c.3612T>C	c.(3610-3612)ttT>ttC	p.F1204F	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.F1204F|PLCH1_ENST00000340059.7_Silent_p.F1242F|PLCH1_ENST00000334686.6_Silent_p.F1204F|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1242					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCCTTGCAAAAACCATGCT	0.473000													11	66					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962106	10962106	+	Missense_Mutation	SNP	G	G	A	rs115762530	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:10962106G>A	ENST00000240691.2	-	1	661	c.569C>T	c.(568-570)cCc>cTc	p.P190L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	190					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGATAAAGGGAACCATCAC	0.413000													19	67					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333660	333660	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:333660G>A	ENST00000343164.4	-	10	1132	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SLC6A13_ENST00000445055.2_Silent_p.I268I	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	360					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCGGGTAAGCGATGAAAGCCA	0.622000													15	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465768	179465768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179465768C>T	ENST00000589042.1	-	288	56087	c.55863G>A	c.(55861-55863)tgG>tgA	p.W18621*	TTN_ENST00000342175.6_Nonsense_Mutation_p.W9748*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9556*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9681*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16980*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W16053*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16980	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTAGGGTCCCATGCAAGGC	0.493000													7	117					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500779	90500779	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:90500779G>A	ENST00000325643.5	+	4	1443	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGGTTTCTAGGAACCCTTCCT	0.547000													45	213					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082490	9082490	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9082490C>T	ENST00000397910.4	-	1	9528	c.9325G>A	c.(9325-9327)Gaa>Aaa	p.E3109K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3110	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGTGTTTCAGCTGTTGTT	0.483000													18	244					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704627	189704627	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:189704627C>T	ENST00000319332.5	-	6	1335	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E199K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	380					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTATCAGCTCAGACTCCAGC	0.343000													28	133					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24339764	24339764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24339764C>T	ENST00000175238.6	+	9	898	c.815C>T	c.(814-816)tCa>tTa	p.S272L	ADAM7_ENST00000380789.1_Missense_Mutation_p.S272L|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S44L|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGCGTTTTTCATTTTGGCAA	0.338000													14	75					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211370	249211370	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:249211370G>A	ENST00000539153.1	+	4	833	c.578G>A	c.(577-579)aGg>aAg	p.R193K	PGBD2_ENST00000329291.5_Missense_Mutation_p.R196K|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	196										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTATCCAAGGAGAAGGATG	0.398000													44	197					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013382	143013382	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143013382C>T	ENST00000343257.2	+	1	164	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	26					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAGTATATGCCCTTTGAACAC	0.637000													20	181					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110825076	110825076	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110825076C>T	ENST00000375820.4	-	41	3668	c.3547G>A	c.(3547-3549)Gga>Aga	p.G1183R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1183	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGTCTCCTTTGGCCCCT	0.478000													12	134					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019247	147019247	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:147019247G>A	ENST00000265272.5	-	10	1945	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A493V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A451V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	493						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTAGGAGGGCATATGCTCT	0.463000													69	281					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202905	56202905	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:56202905G>A	ENST00000361673.3	-	5	4727	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1505							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACATCCACTTGGAATTCTTTC	0.483000													17	54					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630382	74630382	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:74630382G>A	ENST00000358632.4	-	9	1718	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	CYP11A1_ENST00000419019.2_Silent_p.L341L|CYP11A1_ENST00000268053.6_Silent_p.L499L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	499					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCATCAGAATGAGGTTGAATG	0.532000													14	103					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110620208	110620208	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:110620208G>A	ENST00000338882.4	-	4	702	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	235						extracellular region											GCTGGATGGGGATCCCGCCAG	0.468000													10	64					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944410	40944410	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:40944410G>A	ENST00000373198.3	-	12	2327	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	PTPRT_ENST00000373190.1_Silent_p.L698L|PTPRT_ENST00000373193.3_Silent_p.L698L|PTPRT_ENST00000356100.2_Silent_p.L698L|PTPRT_ENST00000373184.1_Silent_p.L698L|PTPRT_ENST00000373201.1_Silent_p.L698L|PTPRT_ENST00000373187.1_Silent_p.L698L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	698	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGCTTTTCAGGGGAGAGAGA	0.493000													19	91					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079255	120079255	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:120079255C>T	ENST00000307128.5	+	4	538	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	109							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTTGACTCCTCCCAACACCCC	0.453000													41	152					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718195	179718195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179718195C>T	ENST00000420890.2	-	20	3334	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A498T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	498							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGTCAGTGGCCTCCTGAATC	0.438000													15	136					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154593138	154593138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:154593138G>A	ENST00000404039.1	+	13	1768	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E	DPP6_ENST00000377770.3_Missense_Mutation_p.G458E|DPP6_ENST00000427557.1_Missense_Mutation_p.G351E|DPP6_ENST00000332007.3_Missense_Mutation_p.G396E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	458					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGAGGACGAGGGAAATTCTAT	0.537000													4	16					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086743	9086743	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9086743C>T	ENST00000397910.4	-	1	5275	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGATGCTTCTTCCTGGAGC	0.483000													18	152					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71790711	71790711	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:71790711C>T	ENST00000269500.5	-	8	1137	c.802G>A	c.(802-804)Gat>Aat	p.D268N	FBXO15_ENST00000419743.2_Missense_Mutation_p.D344N	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	268										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGGCTATCATCCAAAAAGGGG	0.443000													18	39					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343610	103343610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:103343610C>T	ENST00000358392.2	-	67	5739	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1796R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1757R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1680R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1796					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTTCAAATCCGAACTTCTGA	0.348000													10	89					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447645	24447645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:24447645G>A	ENST00000270800.1	-	7	1413	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	459						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTTGCTTCTTGGGATTCCTCC	0.527000													15	80					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52131448	52131448	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:52131448G>A	ENST00000596288.1	-	15	2281	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	MCM3_ENST00000419835.2_Missense_Mutation_p.P661S|MCM3_ENST00000229854.7_Missense_Mutation_p.P707S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	707					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AAGTCATAGGGGTCGTATGAA	0.468000													87	375					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529366	57529366	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57529366G>A	ENST00000420713.1	+	4	1311	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACCACAAGAGAACTCATACT	0.403000													11	47					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244586	46244586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:46244586C>T	ENST00000334344.6	+	15	2852	c.2680C>T	c.(2680-2682)Cag>Tag	p.Q894*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q745*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q504*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	894	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTAGGGTTTCAGAACATTGC	0.458000			"""N, S, F"""		hepatocellular carcinoma								24	67					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52249761G>A	ENST00000595042.1	-	3	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_ENST00000304748.4_Missense_Mutation_p.R163C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	163					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000													6	83					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75042615	75042615	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:75042615C>T	ENST00000326665.5	-	13	2400	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	728	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGCAATGAATCCTTTCCTAGT	0.388000													7	32					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147811	5147811	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5147811G>A	ENST00000380554.3	+	8	1523	c.871G>A	c.(871-873)Gag>Aag	p.E291K	AKR1C3_ENST00000439082.2_Missense_Mutation_p.E172K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E268K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	291					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GTTGACTGCAGAGGACATGAA	0.353000													6	28					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538171	55538171	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55538171G>A	ENST00000220676.1	+	4	1877	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	577					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCAATTGTGGAGGAAGATGT	0.348000													26	121					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299373	25299373	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:25299373C>T	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							ATGATGAGTCCCCAAAAAAAA	0.498000													29	158					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197511090	197511090	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:197511090G>A	ENST00000389175.4	+	2	173	c.38G>A	c.(37-39)aGa>aAa	p.R13K	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	13										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACAGTGTCCAGACCGGTCCTT	0.428000													15	110					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99799644	99799644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:99799644G>A	ENST00000259470.5	-	4	535	c.286C>T	c.(286-288)Cga>Tga	p.R96*	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Nonsense_Mutation_p.R96*	NM_001333.3	NP_001324.2			cathepsin V																		TTCTGGTTTCGAAAGCAACCC	0.423000													14	71					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450983	70450983	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:70450983C>T	ENST00000327305.6	-	7	1455	c.798G>A	c.(796-798)gtG>gtA	p.V266V	NETO1_ENST00000299430.2_Silent_p.V265V|NETO1_ENST00000583169.1_Silent_p.V266V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	266	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACATGCGGATCACCCCAAGAC	0.478000													51	151					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872489	18872489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18872489C>T	ENST00000447925.2	-	5	708	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	PLCZ1_ENST00000541695.1_Missense_Mutation_p.E12K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E149K|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	149					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTCTACATTCATTTTTAAAC	0.274000													9	42					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25281928	25281928	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:25281928T>C	ENST00000323944.5	-	6	1071	c.620A>G	c.(619-621)aAg>aGg	p.K207R	STXBP6_ENST00000419632.2_Missense_Mutation_p.K207R|STXBP6_ENST00000396700.1_Missense_Mutation_p.K207R|STXBP6_ENST00000546511.1_Missense_Mutation_p.K207R|STXBP6_ENST00000548724.1_Missense_Mutation_p.K207R|STXBP6_ENST00000550887.1_Missense_Mutation_p.K207R|STXBP6_ENST00000548369.1_Missense_Mutation_p.K105R			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	207	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		ACATTTGTGCTTCATGGCAAG	0.438000													12	41					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235348	8235348	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:8235348C>T	ENST00000520004.1	-	3	835	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SGK223_ENST00000330777.4_Missense_Mutation_p.E191K			Q86YV5	SG223_HUMAN		191							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGGTTTTTCTTTGTGCACA	0.597000													23	121					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121766504	121766504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:121766504G>A	ENST00000393376.1	-	3	492	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.L133F			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	133	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TAATCAATAAGGCGAATTTCC	0.378000													48	220					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275112	62275112	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62275112C>T	ENST00000370053.1	-	3	369	c.288G>A	c.(286-288)agG>agA	p.R96R	STMN3_ENST00000540534.1_Silent_p.R85R	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	96					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCCTTGCCTTCCTCCGCTCCT	0.657000													7	49					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629453	145629453	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:145629453G>A	ENST00000296575.3	+	7	1946	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	431						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGGCTCCACGATCCAGGCAG	0.517000													17	49					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651480	8651480	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8651480C>T	ENST00000270328.4	-	19	2631	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E276K|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E789K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	789	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCCAGGGCTTCGAGGCTCTGG	0.612000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	115					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760199	133760199	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:133760199C>T	ENST00000318560.5	+	11	2903	c.2522C>T	c.(2521-2523)gCc>gTc	p.A841V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	841	Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AAGGGCAGTGCCTTAGGGACC	0.682000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								7	31					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363357	42363357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:42363357C>T	ENST00000290472.3	-	17	1934	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	614	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTACAGTAGTCCTGGTGCAGC	0.657000													7	42					0	0	1	0	0
TMSB15B	286527	broad.mit.edu	37	X	103219165	103219165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:103219165G>A	ENST00000567181.1	+	2	142	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	TMSB15B_ENST00000569577.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000563257.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000436583.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000540220.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000419165.1_Missense_Mutation_p.E24K			P0CG34	TB15A_HUMAN	thymosin beta 15B	24					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						AACTAATACTGAAGAAAAAAA	0.353000													22	23					0	0	1	0	0
GSC	145258	broad.mit.edu	37	14	95234853	95234853	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:95234853T>C	ENST00000238558.3	-	3	958	c.749A>G	c.(748-750)aAa>aGa	p.K250R		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	250					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CAAATCGCTTTTACCTTCCTC	0.557000													34	120					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410148	13410148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:13410148G>A	ENST00000360228.5	-	19	2298	c.2299C>T	c.(2299-2301)Caa>Taa	p.Q767*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q768*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	768					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTGGCTTTTGATTCTTCTGT	0.552000													53	226					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949658	27949658	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27949658C>T	ENST00000379992.2	-	6	1461	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E338K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	338						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAGACATTCTCTTCCAAAGTT	0.567000													16	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486322	179486322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179486322C>T	ENST00000589042.1	-	245	45453	c.45229G>A	c.(45229-45231)Gaa>Aaa	p.E15077K	TTN_ENST00000342175.6_Missense_Mutation_p.E6204K|TTN_ENST00000460472.2_Missense_Mutation_p.E6012K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6137K|TTN_ENST00000591111.1_Missense_Mutation_p.E13436K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12509K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13436	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGTATTTCATATCTTCCT	0.453000													9	95					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2513704	2513704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:2513704C>T	ENST00000509258.1	+	5	536	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	RNF4_ENST00000541204.1_Intron|RNF4_ENST00000506706.1_Intron|RNF4_ENST00000511859.1_Intron|RNF4_ENST00000511600.1_Intron|RNF4_ENST00000511843.1_Intron|RNF4_ENST00000314289.8_Intron			P78317	RNF4_HUMAN	ring finger protein 4	0					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TGAGTGGTTTCGTTTCCTTTT	0.453000													3	13					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430419	29430419	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29430419G>A	ENST00000377136.1	+	4	1338	c.873G>A	c.(871-873)agG>agA	p.R291R	OR2H1_ENST00000377133.1_Silent_p.R291R|OR2H1_ENST00000377132.1_Silent_p.R291R|OR2H1_ENST00000396792.2_Silent_p.R291R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Silent_p.R291R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACACCCTGAGGAACAAGGAGA	0.483000													14	51					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682476	114682476	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114682476C>A	ENST00000393296.1	-	2	350	c.273G>T	c.(271-273)aaG>aaT	p.K91N	SYT6_ENST00000369547.1_Missense_Mutation_p.K6N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	91					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGGCCTCCTTGTTCCTCC	0.577000													10	101					3.07112e-06	3.10352e-06	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217688185	217688185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:217688185G>A	ENST00000366935.3	-	6	1255	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	382						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGAATCCGGGGAAAAATGAAC	0.358000													4	55					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287820	57287820	+	Silent	SNP	C	C	T	rs145809144		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:57287820C>T	ENST00000543872.2	+	2	672	c.408C>T	c.(406-408)agC>agT	p.S136S	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.S136S|SMG8_ENST00000578922.1_Silent_p.S136S|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	136					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGGACTACAGCCTTCTGCAGG	0.587000													9	24					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77779699	77779699	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:77779699T>C	ENST00000407578.2	-	25	3890	c.3624A>G	c.(3622-3624)ttA>ttG	p.L1208L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L1170L|MYCBP2_ENST00000544440.2_Silent_p.L1170L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACCCATTTTTAAGTCCTGCA	0.333000													5	42					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806439	33806439	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33806439C>T	ENST00000260908.7	-	2	907	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SLFN12L_ENST00000361112.4_Missense_Mutation_p.E293K|SLFN12L_ENST00000449046.1_Missense_Mutation_p.E295K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	296						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAATTACTTCTTTATCTTCA	0.343000													4	16					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394380	154394380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:154394380G>A	ENST00000435029.4	+	1	1121	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	321	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCAATCTAGAGGAAACATT	0.418000													18	231					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197238997	197238997	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:197238997G>A	ENST00000392379.1	-	8	1202	c.801C>T	c.(799-801)gtC>gtT	p.V267V	BDH1_ENST00000392378.2_Silent_p.V267V|BDH1_ENST00000358186.2_Silent_p.V267V|BDH1_ENST00000441275.1_Silent_p.V180V	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	267					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CCTTGCGCACGACCTCAGGCA	0.572000													23	81					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488006	24488006	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:24488006C>T	ENST00000264463.4	-	12	2640	c.2133G>A	c.(2131-2133)cgG>cgA	p.R711R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	711					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAATGAAATCCCGGACGTCCG	0.468000										HNSCC(23;0.051)			7	66					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65607709	65607709	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:65607709C>T	ENST00000330909.8	-	2	367	c.368G>A	c.(367-369)gGg>gAg	p.G123E	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G123E|MAGI1_ENST00000483466.1_Missense_Mutation_p.G123E|MAGI1_ENST00000497477.2_Missense_Mutation_p.G123E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	123	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCAGGAGACCCCTTCTGGAA	0.483000													14	127					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043350	56043350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:56043350C>T	ENST00000313033.2	+	1	322	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGTGTTTTATCATTCTTGGAT	0.373000													12	41					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449025	89449025	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:89449025G>A	ENST00000399794.2	-	3	1200	c.485C>T	c.(484-486)cCt>cTt	p.P162L	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P162L|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	162							nucleotide binding|RNA binding										AGATCTCTTAGGAGAAGGACC	0.493000													28	122					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7666117	7666117	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:7666117C>T	ENST00000507866.2	+	7	1099	c.990C>T	c.(988-990)tcC>tcT	p.S330S	SORCS2_ENST00000329016.9_Silent_p.S158S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	330						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAATTGCTCCGAGAAGATGC	0.587000													7	47					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778737	3778737	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:3778737C>G	ENST00000262367.5	-	31	7120	c.6311G>C	c.(6310-6312)cGc>cCc	p.R2104P	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2104					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTGGCTGTGCGCTGTTTGAT	0.622000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						47	411					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612854	152612854	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:152612854C>T	ENST00000421401.3	+	4	888	c.711C>T	c.(709-711)ttC>ttT	p.F237F	ZNF275_ENST00000370251.2_Silent_p.F237F|ZNF275_ENST00000440091.1_Silent_p.F267F|ZNF275_ENST00000370249.2_Silent_p.F184F	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	237						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGCCTTTCGCCTGCAAGG	0.577000													23	39					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681105	161681105	+	Nonsense_Mutation	SNP	C	C	T	rs143146867	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161681105C>T	ENST00000367959.2	+	4	651	c.409C>T	c.(409-411)Cga>Tga	p.R137*	FCRLA_ENST00000540926.1_Nonsense_Mutation_p.R120*|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Nonsense_Mutation_p.R114*|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.R120*|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000236938.6_Nonsense_Mutation_p.R131*|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GACCTTCTACCGAGATGGCTC	0.592000													13	66					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655339	19655339	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19655339C>T	ENST00000586018.1	+	8	2105	c.2003C>T	c.(2002-2004)gCc>gTc	p.A668V	CILP2_ENST00000291495.4_Missense_Mutation_p.A662V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	662						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGCCGGTGGCCGTGCGGGTG	0.711000													5	24					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249316	61249316	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:61249316C>T	ENST00000338608.2	+	2	160	c.35C>T	c.(34-36)cCt>cTt	p.P12L	RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.P12L|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	12																	GTCGTCTCCCCTTATGTGAAG	0.632000													6	35					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407116	28407116	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:28407116G>A	ENST00000394835.3	+	16	3246	c.3054G>A	c.(3052-3054)aaG>aaA	p.K1018K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.K894K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1018							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAATAAAAAGATCAGTGCTC	0.433000													15	63					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816184	98816184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:98816184C>T	ENST00000266058.4	-	13	1440	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SLIT1_ENST00000371070.4_Missense_Mutation_p.D399N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	399					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGAAGGCATCGGGCCGGATG	0.592000													21	108					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561757	11561757	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:11561757C>T	ENST00000294484.6	+	2	846	c.708C>T	c.(706-708)atC>atT	p.I236I	PTCHD2_ENST00000389575.3_Silent_p.I236I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	236					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCAGCATCCCGCCCCACG	0.682000													4	10					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979357	124979357	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:124979357A>C	ENST00000431078.1	+	2	522	c.158A>C	c.(157-159)cAc>cCc	p.H53P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	53	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGCACTCACAGCCCAGCT	0.478000													3	25					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658780	97658780	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:97658780C>T	ENST00000370192.3	-	20	2567	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	823					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACAGTGAAATCCTGATTCTGA	0.428000													3	32					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869854	4869854	+	Silent	SNP	C	C	T	rs80199695		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4869854C>T	ENST00000322101.2	-	1	660	c.585G>A	c.(583-585)ttG>ttA	p.L195L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGCAGGCCAAACGAGCCA	0.542000													25	96					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18025994	18025994	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18025994G>A	ENST00000265965.5	-	4	592	c.441C>T	c.(439-441)gcC>gcT	p.A147A	SERGEF_ENST00000532265.1_Silent_p.A33A|SERGEF_ENST00000528200.1_Silent_p.A147A|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	147					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCACCTCAATGGCCTGGGGAA	0.443000													4	33					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100074916	100074916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100074916G>A	ENST00000300181.2	-	2	1500	c.746C>T	c.(745-747)cCa>cTa	p.P249L	TSC22D4_ENST00000393991.1_Missense_Mutation_p.P10L|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	249					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCTCTTCTGGAGCACCCAA	0.642000													26	132					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	67					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768735	23768735	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:23768735G>A	ENST00000354639.3	+	6	745	c.281G>A	c.(280-282)gGa>gAa	p.G94E	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G117E|STK31_ENST00000355870.3_Missense_Mutation_p.G117E|STK31_ENST00000428484.1_Missense_Mutation_p.G94E	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	117	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTGACTATGGAAATACTGAA	0.358000													16	59					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564297	139564297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:139564297G>A	ENST00000358430.3	-	10	1653	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	474						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTTCATCGGAGTTGTGCTG	0.463000													19	82					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644969	54644969	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:54644969G>A	ENST00000419823.2	-	6	821	c.597C>T	c.(595-597)atC>atT	p.I199I	CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000401046.3_Silent_p.I51I|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.I199I|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000534324.1_Silent_p.I199I	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	199							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCTCTGCAGGATAGGCACCA	0.542000													8	16					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340189	78340189	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:78340189G>A	ENST00000255189.3	-	6	960	c.932C>T	c.(931-933)cCa>cTa	p.P311L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.P110L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	311					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTTCATATGGACCAAACAA	0.453000													11	64					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671936	45671936	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:45671936C>T	ENST00000308064.2	-	4	1208	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	180					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCACACAGTCCCCCTCCTCC	0.726000													5	59					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18498021	18498021	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18498021A>T	ENST00000280706.2	+	5	1480	c.683A>T	c.(682-684)gAa>gTa	p.E228V	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E228V|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	228					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GAGCAGTGGGAAAATGTCCAC	0.418000													21	67					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124419271	124419271	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:124419271C>T	ENST00000409039.3	+	77	13252	c.13227C>T	c.(13225-13227)atC>atT	p.I4409I	DNAH10OS_ENST00000514254.2_5'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4409					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)		ACCTGCCGATCCTGAAGATCA	0.532000													4	46					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615429	55615429	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55615429C>T	ENST00000326258.1	+	1	621	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTGTTTATCATGTTTCCCT	0.443000													8	69					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982883	57982883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:57982883C>T	ENST00000309433.6	+	1	667	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATCATCTTCCCCTTTACACT	0.448000													21	69					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127872	45127872	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:45127872G>A	ENST00000575173.1	-	0	418																											ATGTTATCCGGACCTTGAAGA	0.512000													6	144					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123951	151123951	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:151123951G>A	ENST00000370325.1	-	8	1079	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.F342F			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	342					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F229L(1)|p.F342L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGATATAGAAATCCAAGG	0.493000													30	42					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680100	43680100	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43680100C>T	ENST00000404580.1	-	3	719	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PSG5_ENST00000599812.1_Missense_Mutation_p.E304K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.E211K|PSG5_ENST00000342951.6_Missense_Mutation_p.E211K|PSG5_ENST00000407356.1_Missense_Mutation_p.E211K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	211	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTCCTGTTTCATTTCTCGTG	0.502000													32	147					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092474	34092474	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:34092474C>T	ENST00000397527.1	+	30	6997	c.6277C>T	c.(6277-6279)Cat>Tat	p.H2093Y	CEP250_ENST00000342580.4_Missense_Mutation_p.H2037Y	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2093	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGGGGCCTTCATCAGAGTGT	0.527000													19	79					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528909	76528909	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:76528909G>A	ENST00000307431.8	+	15	2565	c.2180G>A	c.(2179-2181)gGa>gAa	p.G727E	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G731E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G655E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G679E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	728	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGATTAGAGGGAAACTGCATT	0.403000													12	163					0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52027815	52027815	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52027815G>A	ENST00000466397.1	-	4	570	c.430C>T	c.(430-432)Cca>Tca	p.P144S	RPL29_ENST00000495383.1_Missense_Mutation_p.P144S|RPL29_ENST00000475248.1_Missense_Mutation_p.P144S|RPL29_ENST00000294189.6_Missense_Mutation_p.P144S|RPL29_ENST00000479017.1_Missense_Mutation_p.P144S			P47914	RL29_HUMAN	ribosomal protein L29	144					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGAGCTGGAACTGAAGCT	0.612000													18	70					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960848	200960848	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:200960848C>T	ENST00000332129.2	-	17	2707	c.2391G>A	c.(2389-2391)caG>caA	p.Q797Q	KIF21B_ENST00000461742.2_Silent_p.Q797Q|KIF21B_ENST00000360529.5_Silent_p.Q797Q|KIF21B_ENST00000422435.2_Silent_p.Q797Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	797					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAGCTCGGATCTGAAACTGTG	0.617000													7	32					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36156082	36156082	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:36156082C>T	ENST00000378660.1	+	9	1241	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CHDC2_ENST00000313548.4_Silent_p.I351I					calponin homology domain containing 2																		CAGATGTTATCCCTTCTGAGA	0.333000													15	19					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515120	149515120	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:149515120G>A	ENST00000378016.2	+	0	11510							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCGCAGCCGCCAGTGTGTG	0.697000													4	30					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13251260	13251260	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:13251260C>T	ENST00000378714.3	+	20	2703	c.2575C>T	c.(2575-2577)Ctg>Ttg	p.L859L	MCM10_ENST00000484800.2_Silent_p.L860L|MCM10_ENST00000378694.1_3'UTR	NM_018518.4|NM_182751.2	NP_060988.3|NP_877428.1	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	860					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGGAGAAACTCTGTTACCAAG	0.398000													6	69					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167489207	167489207	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:167489207C>T	ENST00000519204.1	+	6	1207	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	TENM2_ENST00000518659.1_Silent_p.S484S|TENM2_ENST00000520394.1_Silent_p.S252S|TENM2_ENST00000545108.1_Silent_p.S484S|TENM2_ENST00000403607.2_Silent_p.S317S					teneurin transmembrane protein 2																		TCAACATCTCCCTCGGGAAGG	0.458000													15	91					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696249	40696249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40696249C>T	ENST00000225927.2	+	6	2326	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	742						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GTGGCCGGCTCTTGGTGATAG	0.577000													12	40					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84302218	84302218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:84302218G>A	ENST00000428679.2	-	21	2479	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S629L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S629L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S629L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S629L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000195649.6_Missense_Mutation_p.S629L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	629					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTTGCTGGCGAGGCAGTGGT	0.453000													8	23					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933664	62933664	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62933664G>A	ENST00000306494.6	-	7	1136	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	379					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCTGCAACAGGAAAACATTGT	0.478000													16	71					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681104	161681104	+	Silent	SNP	C	C	T	rs148028138		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161681104C>T	ENST00000367959.2	+	4	650	c.408C>T	c.(406-408)taC>taT	p.Y136Y	FCRLA_ENST00000540926.1_Silent_p.Y119Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Silent_p.Y113Y|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.Y119Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000236938.6_Silent_p.Y130Y|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	113	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGACCTTCTACCGAGATGGCT	0.592000													13	63					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41312459	41312459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:41312459G>A	ENST00000551295.2	+	4	230	c.113G>A	c.(112-114)gGa>gAa	p.G38E	CNTN1_ENST00000547702.1_Missense_Mutation_p.G38E|CNTN1_ENST00000347616.1_Missense_Mutation_p.G38E|CNTN1_ENST00000348761.2_Missense_Mutation_p.G27E|CNTN1_ENST00000547849.1_Missense_Mutation_p.G38E|CNTN1_ENST00000360099.3_Missense_Mutation_p.G38E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	38					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAGACAAAGGATTTGGACCA	0.358000													10	48					0	0	1	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013787	117013787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:117013787G>A	ENST00000306985.4	+	2	194	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.E14K	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	14					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						GCGCACCTTCGAACAAAGAGT	0.587000													28	78					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:16067851C>T	ENST00000332432.8	-	4	1137	c.938G>A	c.(937-939)cGa>cAa	p.R313Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTCACAGCTCGCCAGCGCTT	0.423000													7	27					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105811955	105811955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105811955G>A	ENST00000353479.5	-	24	2250	c.1960C>T	c.(1960-1962)Cct>Tct	p.P654S	COL17A1_ENST00000369733.3_Missense_Mutation_p.P654S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	654	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCATGAGGACCTGGTTCA	0.567000													54	177					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280409	32280409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32280409C>T	ENST00000360482.2	-	2	655	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G176R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G176R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	176					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGTCACACCCTGGAGAACTC	0.607000													28	89					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245759	167245759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:167245759G>A	ENST00000308378.3	-	11	1702	c.1397C>T	c.(1396-1398)aCt>aTt	p.T466I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.T291I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	466										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTTATCAGAGTTGGGGCCTT	0.398000													12	83					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													43	157					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286555	240286555	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:240286555G>A	ENST00000319653.9	+	2	1922	c.1692G>A	c.(1690-1692)cgG>cgA	p.R564R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	564					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTGCTCCCGGATCATTGCCA	0.493000													17	76					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139362887	139362887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:139362887G>A	ENST00000313050.7	-	3	3855	c.3782C>T	c.(3781-3783)tCc>tTc	p.S1261F	SEC16A_ENST00000290037.6_Missense_Mutation_p.S1083F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1083F|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1083F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1083					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTACTGGCTGGAGTAATAGCT	0.478000													19	75					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996626	10996626	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:10996626G>A	ENST00000324288.8	+	8	873	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.G198E	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	247					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTGAGGCTGGAACAGGGGTC	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								21	80					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94401016	94401016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:94401016C>T	ENST00000555019.1	-	10	2324	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	ASB2_ENST00000315988.4_Missense_Mutation_p.E584K	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	584					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGGTGTTCTCGTATTTCAGG	0.542000													16	69					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358761	7358761	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7358761C>T	ENST00000306071.2	+	9	1270	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	CHRNB1_ENST00000576360.1_Silent_p.F280F|CHRNB1_ENST00000536404.2_Silent_p.F329F	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	401					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ATTTTCTCTTCCCCAAACCCA	0.547000													19	99					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150310937	150310937	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:150310937C>T	ENST00000520773.1	-	0	2384																											GATGTATAATCAGCTGTGACT	0.418000													3	37					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467461	10467461	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10467461C>T	ENST00000382483.3	-	4	4370	c.4147G>A	c.(4147-4149)Gga>Aga	p.G1383R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1383					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGTCCTCCTTCTGGCCCT	0.527000													62	314					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286596	57286596	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286596C>T	ENST00000391708.3	-	12	1586	c.1044G>A	c.(1042-1044)cgG>cgA	p.R348R	ZIM2_ENST00000601070.1_Silent_p.R348R|ZIM2_ENST00000599935.1_Silent_p.R348R|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.R348R|ZIM2_ENST00000221722.5_Silent_p.R348R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CAGTATGGATCCGTTCGTGTC	0.463000													19	99					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101762998	101762998	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:101762998C>T	ENST00000251127.6	-	20	2417	c.2336G>A	c.(2335-2337)gGa>gAa	p.G779E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	779						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGATTTTCCCCTGCTGAT	0.378000													10	123					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290790	31290790	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:31290790C>T	ENST00000554665.1	-	0	208																											ACCACTATCCCTGCAAAGTAA	0.473000													12	31					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66457999	66457999	+	RNA	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:66457999C>A	ENST00000424345.1	+	0	67																											ATGCTGCTGCCTGGCGGTGCT	0.731000													2	2					0.004672	0.00469462	1	1	0
CR1	1378	broad.mit.edu	37	1	207741189	207741189	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:207741189C>T	ENST00000367049.4	+	25	3973	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	CR1_ENST00000367051.1_Missense_Mutation_p.P875S|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.P875S|CR1_ENST00000367053.1_Missense_Mutation_p.P875S|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	875	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAAGTCCTCCAGTTATTCC	0.433000													21	259					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039010	11039010	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:11039010C>T	ENST00000470054.1	-	0	1193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGAAACATCTTTCACACAA	0.388000													12	457					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325567	57325567	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57325567C>T	ENST00000326441.9	-	10	4606	c.4243G>A	c.(4243-4245)Gct>Act	p.A1415T	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1289T|PEG3_ENST00000598410.1_Missense_Mutation_p.A1291T|PEG3_ENST00000423103.2_Missense_Mutation_p.A1415T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1415	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTCAGCAGCCTCCACTTCT	0.587000													16	71					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40800412	40800412	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:40800412C>T	ENST00000248929.9	+	5	508	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	SGSM3_ENST00000454798.2_Missense_Mutation_p.L40F	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	107					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCTGAGAAGCTCCGCTCCCT	0.637000													16	49					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310574	26310574	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:26310574C>A	ENST00000265944.5	+	8	894	c.728C>A	c.(727-729)cCa>cAa	p.P243Q	MYO3A_ENST00000376302.1_Missense_Mutation_p.P243Q|MYO3A_ENST00000543632.1_Missense_Mutation_p.P243Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	243	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCAAAATACCAAGGTCAGAT	0.488000													25	95					9.39395e-14	9.55512e-14	1	1	0
CDH16	1014	broad.mit.edu	37	16	66944362	66944362	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:66944362G>A	ENST00000299752.4	-	15	2161	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	CDH16_ENST00000570262.1_Silent_p.F576F|CDH16_ENST00000394055.3_Intron|CDH16_ENST00000565796.1_Intron|CDH16_ENST00000568632.1_Silent_p.F559F	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	656	Cadherin 6.				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)		GGGCCTTTAGGAAGTGGATCA	0.632000													10	106					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118813129	118813129	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:118813129C>T	ENST00000504811.1	+	8	626	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	HSD17B4_ENST00000256216.6_Missense_Mutation_p.H123Y|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.H105Y|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000513628.1_5'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.H99Y	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	123	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CCACAGAGTTCATTTGCGGGG	0.343000													14	113					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46313413	46313413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:46313413C>T	ENST00000306156.3	+	11	1831	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	502	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.R502*(2)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TCAGCGCTCCCGAAAATTCGA	0.493000													7	79					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166451662	166451662	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:166451662C>T	ENST00000314499.7	+	4	463	c.87C>T	c.(85-87)tcC>tcT	p.S29S	CSRNP3_ENST00000342316.4_Silent_p.S29S|CSRNP3_ENST00000409420.1_Silent_p.S61S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	29	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGAAGTTTCCAGCAGTGAAA	0.463000													22	108					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38287858	38287858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:38287858C>T	ENST00000373036.4	-	9	1842	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	568						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCTGTTCTCCCATGACTAGG	0.448000													19	69					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187656	152187656	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152187656C>T	ENST00000368801.2	-	3	6524	c.6449G>A	c.(6448-6450)gGa>gAa	p.G2150E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2150					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCTAGATCCGTGTCGTTC	0.582000													54	3623					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164228	26164228	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:26164228C>T	ENST00000335473.7	+	4	595	c.345C>T	c.(343-345)ccC>ccT	p.P115P	MYO18B_ENST00000536101.1_Silent_p.P115P|MYO18B_ENST00000407587.2_Silent_p.P115P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	115						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCGCAGCCCCGACCCTGAGC	0.597000													5	32					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490906	111490906	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:111490906C>T	ENST00000369763.4	-	4	2375	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D	LRIF1_ENST00000485275.2_Missense_Mutation_p.G126D|LRIF1_ENST00000494675.1_Missense_Mutation_p.G126D|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGTTGGGAACCGGTGACATT	0.368000													22	114					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158290911	158290911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:158290911C>T	ENST00000264192.3	-	3	371	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	84	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTTCATTATCCTGCTTCTCC	0.333000													6	66					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53567519	53567519	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:53567519C>T	ENST00000267085.4	-	3	301	c.68G>A	c.(67-69)aGc>aAc	p.S23N	CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	225					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TACCTCTCTGCTCAGGAGAGC	0.522000													9	35					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:155932417G>A	ENST00000368316.1	-	13	1454	c.984C>T	c.(982-984)taC>taT	p.Y328Y	ARHGEF2_ENST00000368315.3_Silent_p.Y357Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557000													4	108					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430375	78430375	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:78430375G>A	ENST00000370767.1	-	10	880	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FUBP1_ENST00000370768.2_Missense_Mutation_p.R265W|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286W			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	265					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TACTCATTCCGAACTTCTCTG	0.348000			"""F, N"""		oligodendroglioma								17	208					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976231	121976231	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:121976231A>G	ENST00000265922.3	-	6	1349	c.888T>C	c.(886-888)tcT>tcC	p.S296S	DBC1_ENST00000373964.2_Silent_p.S296S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		296					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTCGGCCCAAGACTTGGCCA	0.547000													28	68					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38117619	38117619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:38117619C>T	ENST00000397166.2	+	17	2641	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	DDHD2_ENST00000529845.1_Missense_Mutation_p.L157F|DDHD2_ENST00000520272.2_Missense_Mutation_p.L706F|DDHD2_ENST00000517385.1_Missense_Mutation_p.L325F	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	706					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGGTATCTTCCTTGATCAGCC	0.328000													21	96					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920370	43920370	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43920370G>A	ENST00000602198.1	+	5	680	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TEX101_ENST00000253435.7_Missense_Mutation_p.E80K|TEX101_ENST00000598265.1_Missense_Mutation_p.E62K|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	62						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTTTGCCAGGAAACCATACT	0.473000													16	48					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783279	43783279	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:43783279G>A	ENST00000372476.3	+	16	2744	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.E534K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	889	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGAACTGGAAGTTCTGTG	0.498000													39	206					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959958	50959958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:50959958G>A	ENST00000374103.4	-	6	749	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	OGDHL_ENST00000419399.1_Missense_Mutation_p.R165W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R13W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	222					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AACTTCTGCCGGATCCACTGG	0.592000													58	214					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28188617	28188617	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:28188617G>A	ENST00000304658.5	-	3	631	c.131C>T	c.(130-132)gCc>gTc	p.A44V	XPO6_ENST00000565698.1_Missense_Mutation_p.A30V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	44	Importin N-terminal.				protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAATCTCCAGGCTCCTATTTG	0.368000													5	50					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330723	125330723	+	Missense_Mutation	SNP	C	C	T	rs143007621		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:125330723C>T	ENST00000304865.2	-	1	115	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATAAACTCGGAGACACTG	0.458000													16	46					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651391	1651391	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:1651391G>A	ENST00000399676.2	+	1	359	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	107	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCT	0.687000													13	176					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561798	142561798	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142561798C>T	ENST00000392957.2	+	7	1027	c.240C>T	c.(238-240)gcC>gcT	p.A80A	EPHB6_ENST00000442129.1_Silent_p.A80A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	80						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGCAGGGGCCCCTCCAGGCA	0.627000													58	294					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43702471	43702471	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:43702471G>A	ENST00000398437.1	+	7	1262	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T	ABCG1_ENST00000340588.4_Missense_Mutation_p.A334T|ABCG1_ENST00000361802.2_Missense_Mutation_p.A226T|ABCG1_ENST00000343687.3_Missense_Mutation_p.A237T|ABCG1_ENST00000398457.2_Missense_Mutation_p.A228T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A223T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A226T|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	226					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAAGCGCCTGGCCATCGCGCT	0.617000													8	57					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124419272	124419272	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:124419272C>T	ENST00000409039.3	+	77	13253	c.13228C>T	c.(13228-13230)Ctg>Ttg	p.L4410L	DNAH10OS_ENST00000514254.2_5'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4410					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)		CCTGCCGATCCTGAAGATCAT	0.527000													4	46					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615459	8615459	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8615459C>T	ENST00000338257.8	-	9	1158	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	297	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACACTCTCCACTCGGGCGT	0.617000													15	94					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767728	148767728	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:148767728G>A	ENST00000316286.9	-	3	2150	c.1878C>T	c.(1876-1878)aaC>aaT	p.N626N	ZNF786_ENST00000491431.1_Silent_p.N712N|ZNF786_ENST00000451334.3_Silent_p.N675N			Q8N393	ZN786_HUMAN	zinc finger protein 786	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCCCGGAAGTTCTTGTCAC	0.582000													35	164					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575004	45575004	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:45575004T>C	ENST00000303809.2	-	3	1497	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	428					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCGGTTGAGCTTACTGCTCTG	0.662000													24	77					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879936	39879936	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39879936C>T	ENST00000221265.3	-	6	777	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PAF1_ENST00000221266.7_Silent_p.E139E|PAF1_ENST00000595564.1_Silent_p.E139E	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	149					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCAGGCTTCTCATTGGAGA	0.498000													17	68					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755265	140755265	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140755265G>T	ENST00000517434.1	+	1	1615	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAGCGGGGACCCGCCTCT	0.597000													21	177					4.54149e-19	4.63835e-19	1	1	0
IL22RA1	58985	broad.mit.edu	37	1	24463788	24463788	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:24463788C>T	ENST00000270800.1	-	3	226	c.188G>A	c.(187-189)aGg>aAg	p.R63K		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	63	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CACCCAGTCCCTCTCTCCGTA	0.577000													12	111					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88478395	88478395	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:88478395C>T	ENST00000324166.5	+	4	2356	c.665C>T	c.(664-666)tCg>tTg	p.S222L	THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	222					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTGAATTCGATCAACTGG	0.537000													31	270					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469266	10469266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10469266G>A	ENST00000382483.3	-	4	2565	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	781					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGAGTCGGATGTGTGGGG	0.662000													32	129					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273834	159273834	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:159273834T>A	ENST00000368115.1	+	4	292	c.193T>A	c.(193-195)Ttc>Atc	p.F65I	FCER1A_ENST00000368114.1_Missense_Mutation_p.F32I	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	65	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CACCAAATGGTTCCACAATGG	0.383000													22	99					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731576	21731576	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:21731576G>A	ENST00000578713.1	+	2	655	c.651G>A	c.(649-651)tcG>tcA	p.S217S	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGAAAGAGTCGACCCTGCACC	0.527000													6	42					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547970	17547970	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:17547970C>T	ENST00000005226.7	-	8	597	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	USH1C_ENST00000527020.1_Missense_Mutation_p.G200S|USH1C_ENST00000527720.1_Missense_Mutation_p.G169S|USH1C_ENST00000318024.4_Missense_Mutation_p.G200S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	200					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						CCAGGGGAGCCCAGGCTGCCT	0.607000													5	37					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17402195	17402195	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:17402195A>G	ENST00000375486.4	-	12	1497	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F	PADI2_ENST00000444885.2_Silent_p.F362F|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	478					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)	GGATGGGGACAAAGGACATGA	0.597000											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	145					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82544610G>A	ENST00000423517.2	-	7	13029	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F|PCLO_ENST00000437081.1_Missense_Mutation_p.S951F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000													10	39					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428193	79428193	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79428193C>T	ENST00000307745.7	+	30	6504	c.6504C>T	c.(6502-6504)ttC>ttT	p.F2168F	RP11-1055B8.8_ENST00000572590.1_RNA																							ACGCGCCCTTCGTCGGGGGGA	0.721000													4	9					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109067	24109067	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:24109067G>A	ENST00000250383.6	+	4	859	c.383G>A	c.(382-384)gGg>gAg	p.G128E	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.G128E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	106					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCTCTGGTAGGGAGCACTCTG	0.657000													11	48					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19389562	19389562	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19389562G>A	ENST00000247001.5	-	11	1919	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	524					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGTCTCCGATGAAGTGCTTGC	0.592000													3	40					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249258	123249258	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:123249258G>A	ENST00000264501.4	+	66	11368		c.e66-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTACAATCAGTTTCCAGAGG	0.289000													8	24					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050909	110050909	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:110050909G>A	ENST00000369864.4	-	2	975	c.626C>T	c.(625-627)cCg>cTg	p.P209L	AMIGO1_ENST00000369862.1_Missense_Mutation_p.P209L			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	209					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATCCAGGCCGGCAGCTTCTG	0.527000													9	109					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782167	54782167	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54782167G>A	ENST00000391748.1	-	7	1332	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	LILRB2_ENST00000434421.1_Missense_Mutation_p.S286F|LILRB2_ENST00000314446.5_Missense_Mutation_p.S402F|LILRB2_ENST00000391746.1_Missense_Mutation_p.S402F|LILRB2_ENST00000391749.4_Missense_Mutation_p.S402F	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	402	Ig-like C2-type 4.				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)		GTAGGGGTCGGAGTTGAGTGA	0.587000													24	135					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:71275406C>T	ENST00000395275.2	-	6	961	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000													24	113					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705867	35705867	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:35705867C>T	ENST00000373866.3	+	2	249	c.227C>T	c.(226-228)tCt>tTt	p.S76F	ARMC12_ENST00000373869.3_Missense_Mutation_p.S76F|ARMC12_ENST00000288065.2_Missense_Mutation_p.S103F			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	76							binding										CTCCTCAACTCTTTGGAGTGC	0.592000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	158					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439664	179439664	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179439664C>T	ENST00000589042.1	-	326	71419	c.71195G>A	c.(71194-71196)gGa>gAa	p.G23732E	TTN_ENST00000342175.6_Missense_Mutation_p.G14859E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14667E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14792E|TTN_ENST00000591111.1_Missense_Mutation_p.G22091E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21164E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22091	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGATTGGTCCAGTAGGTGG	0.443000													4	16					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93116311	93116311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:93116311C>T	ENST00000359558.2	-	4	336	c.37G>A	c.(37-39)Gat>Aat	p.D13N	CALCR_ENST00000421592.1_5'UTR|CALCR_ENST00000426151.1_5'UTR|CALCR_ENST00000360249.4_5'UTR|CALCR_ENST00000394441.1_5'UTR	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTTTGAAGATCTCTTTGTCCT	0.289000													13	52					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150439	21150439	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21150439G>A	ENST00000255882.6	-	18	2358	c.2272C>T	c.(2272-2274)Cta>Tta	p.L758L	PI4KA_ENST00000572273.1_Silent_p.L700L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	700					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTACCTTTAGGGCAGGGCCC	0.577000													6	40					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40034557	40034557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:40034557G>A	ENST00000372857.3	-	6	1585	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	PABPC4_ENST00000372858.3_Missense_Mutation_p.R265C|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.R265C|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.R265C	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	265	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTTGTGCACGGCCTACAAAT	0.398000													15	151					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809624	809624	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:809624G>A	ENST00000446136.1	-	0	1069					NR_027055.1																						AATTCACCGAGGCCGAGAGCA	0.537000													12	133					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141027857	141027857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:141027857C>T	ENST00000389484.3	-	86	14172	c.13201G>A	c.(13201-13203)Ggt>Agt	p.G4401S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4401	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGTGCCACCATTGTAACAG	0.403000										TSP Lung(27;0.18)			12	100					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535371	169535371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:169535371C>T	ENST00000449804.2	+	2	653	c.608C>T	c.(607-609)cCc>cTc	p.P203L	FOXI1_ENST00000306268.6_Missense_Mutation_p.P298L	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	298					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGAGCCACCCCTTGGTCACA	0.622000									Pendred syndrome				11	71					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186669	157186669	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:157186669G>A	ENST00000339562.4	-	3	392	c.30C>T	c.(28-30)tcC>tcT	p.S10S	NR4A2_ENST00000409108.2_Silent_p.S10S|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Silent_p.S10S|NR4A2_ENST00000539077.1_Silent_p.S21S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	10					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTTGAGGCGAGGACCCATACT	0.522000													8	31					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598322	49598322	+	RNA	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:49598322C>A	ENST00000527477.1	+	0	926																											ACTCAGCAACCATCATGGATC	0.473000													4	69					1.23904e-05	1.25008e-05	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173042	126173042	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:126173042G>A	ENST00000339582.2	-	9	3202	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	GRM8_ENST00000358373.3_Silent_p.I798I|GRM8_ENST00000444921.2_Silent_p.I798I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	798					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAAAGATGGGGATGAAAGCTA	0.388000										HNSCC(24;0.065)			13	50					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123346376	123346376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:123346376G>A	ENST00000223023.4	-	4	723	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	131	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.R131*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGCTTTTCGAAATTTTTTT	0.363000													8	34					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373358	62373358	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62373358C>T	ENST00000266077.2	+	4	580	c.528C>T	c.(526-528)ccC>ccT	p.P176P	SLC2A4RG_ENST00000493772.1_Intron	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	176						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCACTGCCCCCCGAGGCAG	0.687000													15	54					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	75986677	75986677	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:75986677G>A	ENST00000487694.3	+	2	312	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCACTAGAAGGATGTGGACAT	0.443000													3	30					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86839324	86839324	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:86839324A>G	ENST00000237455.4	-	3	1408	c.440T>C	c.(439-441)tTt>tCt	p.F147S	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	147					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACGTATTCCAAATCTTGACAC	0.373000													6	99					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267863	103267863	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:103267863G>A	ENST00000217926.5	-	1	396	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	124					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GAGCGGGCCAGGCGACCAGCC	0.652000													10	30					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156906763	156906763	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156906763G>A	ENST00000368194.3	-	40	5514	c.4475C>T	c.(4474-4476)tCc>tTc	p.S1492F	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1452F|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S868F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1452					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCCCAAGGGACTTGAGCAG	0.597000													38	231					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871144	39871144	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:39871144C>T	ENST00000502986.2	+	10	1061	c.819C>T	c.(817-819)ccC>ccT	p.P273P	IDO2_ENST00000389060.4_Silent_p.P260P|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	260					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCCAAGAGCCCCTGAAATACT	0.498000													17	92					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76255701	76255701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:76255701G>A	ENST00000319942.3	+	4	445	c.374G>A	c.(373-375)gGt>gAt	p.G125D	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.G125D	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	125					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						TATGTTAAAGGTCTACAGAAA	0.323000													12	143					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640457	29640457	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29640457C>T	ENST00000376883.1	-	6	1782	c.1371G>A	c.(1369-1371)gtG>gtA	p.V457V	ZFP57_ENST00000488757.1_Silent_p.V477V|ZFP57_ENST00000376881.3_Silent_p.V457V			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	393					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGCCCAGGATCACCCGGCATT	0.562000													20	73					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188238	152188238	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152188238G>A	ENST00000368801.2	-	3	5942	c.5867C>T	c.(5866-5868)tCt>tTt	p.S1956F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1956					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGAACCAGACCCATGTCG	0.617000													29	1509					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463420	26463420	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:26463420G>A	ENST00000265944.5	+	30	4393	c.4227G>A	c.(4225-4227)aaG>aaA	p.K1409K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1409					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAAGAAGAAGGATAACAAAG	0.318000													16	91					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438711	58438711	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58438711G>T	ENST00000396147.1	-	4	1129	c.838C>A	c.(838-840)Cac>Aac	p.H280N	ZNF418_ENST00000595830.1_Missense_Mutation_p.H280N|ZNF418_ENST00000599852.1_Missense_Mutation_p.H195N|ZNF418_ENST00000425570.3_Missense_Mutation_p.H301N|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCCAGTGTGAACTCGCTGA	0.433000													19	186					2.39187e-15	2.43689e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179583665	179583665	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179583665C>T	ENST00000589042.1	-	84	24486	c.24262G>A	c.(24262-24264)Gaa>Aaa	p.E8088K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7771K|TTN_ENST00000342992.6_Missense_Mutation_p.E6844K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7771	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAAAACTTCCACAGAATCA	0.473000													3	17					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086747	39086747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:39086747C>T	ENST00000400482.3	-	3	1302	c.713G>A	c.(712-714)aGa>aAa	p.R238K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R238K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	238					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CAACTTGGCTCTGATGGAAGC	0.527000													10	83					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618601	37618601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:37618601C>T	ENST00000447079.4	+	1	310	c.277C>T	c.(277-279)Cga>Tga	p.R93*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.R93*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	93					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAACTAGACCGAAGGGAGAA	0.522000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			8	51					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165693599	165693599	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:165693599C>T	ENST00000230301.8	-	9	1377	c.1356_splice	c.e9-1	p.G453_splice	C6orf118_ENST00000491176.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	453										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCAAAGGCCCCTTAAAATAC	0.308000													7	23					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154824	22154824	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22154824T>C	ENST00000397126.4	-	4	3160	c.3012A>G	c.(3010-3012)gaA>gaG	p.E1004E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCACATTCTTCACATTTGT	0.368000													3	72					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140378	178140378	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:178140378G>C	ENST00000335815.2	-	5	698	c.501C>G	c.(499-501)aaC>aaG	p.N167K		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	167					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTGGGCTGAAGTTTTGGCTCA	0.378000													12	203					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988812	21988812	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21988812C>T	ENST00000292779.3	+	3	735	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	192										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGACAAACTCCTGCTGGAGAA	0.637000													13	47					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4778692	4778692	+	Silent	SNP	G	G	A	rs34143688		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:4778692G>A	ENST00000379400.3	-	4	294	c.99C>T	c.(97-99)taC>taT	p.Y33Y	RASSF2_ENST00000379376.2_Silent_p.Y33Y	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	33					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGCCTTCATAGTACAAGTTGT	0.478000													9	41					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18893611	18893611	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:18893611G>A	ENST00000446231.2	-	10	1581	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	SMG1_ENST00000565224.1_Missense_Mutation_p.P364L|SMG1_ENST00000389467.3_Missense_Mutation_p.P390L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	390	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTGATGGAGGAGGGACATC	0.473000													8	38					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771298	157771298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:157771298G>A	ENST00000368176.3	-	6	1023	c.956C>T	c.(955-957)cCa>cTa	p.P319L	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.P319L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	319						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGGTGGCTGGACCAAGGGT	0.468000													11	67					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121818	38121818	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38121818C>T	ENST00000406386.3	+	7	3510	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1085					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTGACCCCTTCCCCTTCCTCC	0.622000													42	141					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503584	40503584	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:40503584G>A	ENST00000589109.1	-	4	550	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	RIT2_ENST00000590910.1_Silent_p.F147F|RIT2_ENST00000282028.4_Missense_Mutation_p.P127S|RIT2_ENST00000326695.5_Missense_Mutation_p.P127S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	127					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCACCAGGGGAATTTCATAG	0.478000													55	209					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207789950	207789950	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:207789950T>C	ENST00000367049.4	+	41	6692	c.6692T>C	c.(6691-6693)cTt>cCt	p.L2231P	CR1_ENST00000367051.1_Missense_Mutation_p.L1781P|CR1_ENST00000367052.1_Missense_Mutation_p.L1781P|CR1_ENST00000400960.2_Missense_Mutation_p.L1781P|CR1_ENST00000367053.1_Missense_Mutation_p.L1781P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1781					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGCTATCCTTAATGGGAGA	0.403000													24	99					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	780983	780983	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:780983G>A	ENST00000297440.6	+	4	925		c.e4-1		HEATR2_ENST00000438961.1_Splice_Site|HEATR2_ENST00000313147.5_Splice_Site	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2								protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTGTGCCTCAGGCAGCTGGCT	0.647000													8	17					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518327	233518327	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:233518327C>T	ENST00000366624.3	+	10	3242	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	MLK4_ENST00000366622.1_Missense_Mutation_p.S440F	NM_032435.2	NP_115811.2																					AGAACTAAATCCCATGTGCCT	0.552000													23	111					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638043	234638043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234638043C>T	ENST00000482026.1	+	1	290	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAATTTGATCGCCATGTGCT	0.428000													16	122					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40850805	40850805	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40850805C>T	ENST00000264638.4	+	24	4249	c.4032C>T	c.(4030-4032)acC>acT	p.T1344T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1344					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGGTCCCCACCCCTACAGCAG	0.652000													5	77					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768049	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:57768049C>T	ENST00000371030.2	+	1	1975	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	659						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)					ACTGGGCTTTCCTCTGCAGAA	0.582000													13	71					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080023	54080023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54080023G>A	ENST00000253144.9	+	7	1542	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ZNF331_ENST00000449416.1_Missense_Mutation_p.R70K|ZNF331_ENST00000511593.2_Missense_Mutation_p.R70K|ZNF331_ENST00000513999.1_Missense_Mutation_p.R70K|ZNF331_ENST00000511154.1_Missense_Mutation_p.R70K|ZNF331_ENST00000513265.1_Missense_Mutation_p.R70K|ZNF331_ENST00000512387.1_Missense_Mutation_p.R70K|ZNF331_ENST00000411977.2_Missense_Mutation_p.R70K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCTTCCAAAAGGAATTCAGAT	0.388000			T	?	follicular thyroid adenoma								12	33					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212812196	212812196	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:212812196C>T	ENST00000342788.4	-	3	690	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.G127E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G127E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	127					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCAAAGTTTCCATCTTTTCT	0.338000										TSP Lung(8;0.080)			4	36					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865994	100865994	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100865994C>T	ENST00000305105.2	+	2	660	c.132C>T	c.(130-132)ccC>ccT	p.P44P	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	44							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGATGACCCCCACGCGGGAC	0.667000													16	114					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288020	202288020	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:202288020C>T	ENST00000367278.3	+	18	2678	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	LGR6_ENST00000255432.7_Silent_p.S811S|LGR6_ENST00000439764.2_Silent_p.S724S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	863						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGAAGAGCTCCTGTGATTCTA	0.642000													14	71					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064086	7064086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:7064086G>A	ENST00000299481.4	+	4	1175	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	277	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGCACTGTGCGAAGACTGGAC	0.448000													17	74					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726256	12726256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12726256C>T	ENST00000376221.1	+	4	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	245						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATTACTTTCCCGGAAGTTC	0.517000													26	222					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171546720	171546720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:171546720C>T	ENST00000367742.3	+	26	7345	c.7103C>T	c.(7102-7104)tCc>tTc	p.S2368F	PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2366F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2301F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2368F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2366	Gln-rich.						protein C-terminus binding										TGTATGCCTTCCCTTATTGCC	0.413000													6	46					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44828178	44828178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:44828178G>A	ENST00000372262.3	-	7	1707	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	CDH22_ENST00000537909.1_Missense_Mutation_p.S436L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTCCAAATCTGATTCGCGGTC	0.612000													6	33					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185818	8185818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:8185818G>A	ENST00000520004.1	-	5	2738	c.2474C>T	c.(2473-2475)tCa>tTa	p.S825L	SGK223_ENST00000330777.4_Missense_Mutation_p.S825L			Q86YV5	SG223_HUMAN		825							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCATCCGGTGAAGAGGCTGC	0.612000													27	117					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97329558	97329558	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:97329558G>A	ENST00000375337.3	-	5	765	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	233					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCACCTCAGGGAATTTCTTTT	0.478000													27	121					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805155	170805155	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:170805155G>A	ENST00000436636.2	-	24	3206	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S	TNIK_ENST00000470834.1_Silent_p.S917S|TNIK_ENST00000369326.5_Silent_p.S932S|TNIK_ENST00000460047.1_Silent_p.S891S|TNIK_ENST00000357327.5_Silent_p.S925S|TNIK_ENST00000341852.6_Silent_p.S870S|TNIK_ENST00000284483.8_Silent_p.S946S|TNIK_ENST00000538048.1_Silent_p.S906S|TNIK_ENST00000488470.1_Silent_p.S899S|TNIK_ENST00000475336.1_Silent_p.S862S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	954	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCATCTCCTGGGAATGGGTTG	0.557000													24	154					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72064629	72064629	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:72064629G>A	ENST00000265381.4	-	10	2274	c.2052C>T	c.(2050-2052)atC>atT	p.I684I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	684	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGTTGGCAATGATCACGGTGG	0.517000													19	104					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331287	46331287	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:46331287C>T	ENST00000359930.4	-	4	1394	c.543G>A	c.(541-543)gaG>gaA	p.E181E	SULF2_ENST00000467815.1_Silent_p.E181E|SULF2_ENST00000484875.1_Silent_p.E181E|SULF2_ENST00000361612.4_Silent_p.E181E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	181					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGCCGTGCTTCTCTTTCACCC	0.572000													16	46					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44491944	44491944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:44491944G>A	ENST00000425708.2	-	5	1156	c.815C>T	c.(814-816)tCc>tTc	p.S272F	ZNF445_ENST00000396077.2_Missense_Mutation_p.S272F			P59923	ZN445_HUMAN	zinc finger protein 445	272	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTACCCAGGGAAGCCATGTT	0.493000													21	72					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216239936	216239936	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:216239936C>T	ENST00000354785.4	-	38	6527		c.e38+1		FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000357009.2_Splice_Site|FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000356005.4_Splice_Site			P02751	FINC_HUMAN	fibronectin 1						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCAGCAATACCAGTAATAGT	0.498000													7	102					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748638	36748638	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:36748638G>A	ENST00000379881.3	-	8	944	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.L363F|SOHLH2_ENST00000554962.1_Missense_Mutation_p.L363F	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTGCCTGGGAGAGACAGCTCA	0.398000													13	118					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554681	52554681	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52554681G>A	ENST00000321725.6	+	54	5749	c.5673G>A	c.(5671-5673)ctG>ctA	p.L1891L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1891					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGTGGGCTGGAGCCACCCT	0.647000													11	202					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170557	16170557	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:16170557C>T	ENST00000380289.2	+	3	1342	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	315					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.S315Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCACCAACTCCTGCGTGAAC	0.562000													40	104					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209334	98209334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:98209334G>A	ENST00000430669.2	-	23	4591	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S	PTCH1_ENST00000331920.6_Missense_Mutation_p.P1402S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1336S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1401S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1251S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1251S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1251S			Q13635	PTC1_HUMAN	patched 1	1402					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCAGTCTCAGGGTAGCCTGGG	0.657000													21	89					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12077166	12077166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:12077166G>A	ENST00000356352.2	-	1	730	c.257C>T	c.(256-258)tCa>tTa	p.S86L	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000357604.5_Missense_Mutation_p.S86L|UPF2_ENST00000397053.2_Missense_Mutation_p.S86L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	86	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ttttttctttgattcttcctC	0.403000													8	35					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531961	92531961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:92531961G>A	ENST00000298047.6	+	9	5799	c.5782G>A	c.(5782-5784)Gat>Aat	p.D1928N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1778N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1928N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1928	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCAGTTTGGATCATTTTTT	0.423000										TCGA Ovarian(4;0.039)			4	22					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234581022G>A	ENST00000354728.4	+	1	524	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1												p.D148N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AGTGTTTCTCGATCCTTTTGA	0.373000													9	106					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899900	4899900	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:4899900T>G	ENST00000404991.1	-	1	1725	c.1539A>C	c.(1537-1539)agA>agC	p.R513S	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	513					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGTCAATCTTCTACCTTCTG	0.438000													10	65					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9353699	9353699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:9353699G>A	ENST00000378501.2	+	9	707	c.692G>A	c.(691-693)gGa>gAa	p.G231E	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.G231E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G231E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G231E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G231E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G231E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	231					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTCAGCAATGGAGACAAAACT	0.303000													4	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179542556C>T	ENST00000589042.1	-	146	34307	c.34083G>A	c.(34081-34083)gaG>gaA	p.E11361E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.E11044E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.E10117E|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11044	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGAACTTCCTCTTCAGGAA	0.428000													12	108					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120425692	120425692	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:120425692C>T	ENST00000354960.3	-	18	2649	c.2331_splice	c.e18+1	p.R777_splice	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Splice_Site_p.R735_splice|PDE5A_ENST00000394439.1_Splice_Site_p.R725_splice	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	777	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAACATACCCGTTGTTGAAT	0.348000													12	54					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783075	164783075	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:164783075A>G	ENST00000264382.3	-	7	843	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	261	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTCGAGTAAAAATTGGCCAT	0.318000										HNSCC(35;0.089)			13	61					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153556	133153556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:133153556G>A	ENST00000388996.4	-	10	1705	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R309W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R429W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	429					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGCGAACCCGATCCAAGAGA	0.413000													11	53					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240877	58240877	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:58240877G>C	ENST00000377918.3	+	3	2733	c.2707G>C	c.(2707-2709)Gac>Cac	p.D903H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	903					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTGACCAAGACACTAACAA	0.473000													9	60					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859874	43859874	+	RNA	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43859874A>C	ENST00000378009.4	+	0	483				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGGGACAACAGAAGAGATCT	0.582000													6	59					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48452118	48452118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:48452118G>A	ENST00000435803.1	+	41	12421	c.12397G>A	c.(12397-12399)Gat>Aat	p.D4133N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4133					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGGCCCTGGATGAGAACCT	0.493000													21	105					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44158466	44158466	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:44158466C>T	ENST00000263795.6	+	13	1827	c.1757C>T	c.(1756-1758)tCg>tTg	p.S586L	WDR76_ENST00000381246.2_Missense_Mutation_p.S522L|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	586										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGGGTGCATTCGTTTGGTGGA	0.483000													32	92					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982545	117982545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:117982545G>A	ENST00000534111.1	+	8	932	c.667G>A	c.(667-669)Gac>Aac	p.D223N	TMPRSS4_ENST00000437212.3_Missense_Mutation_p.D225N|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D185N|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D220N|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D78N	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	225	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CATCCAGTACGACAAACAGCA	0.617000													7	72					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152201873	152201873	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152201873C>T	ENST00000440973.1	+	5	1097	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	ESR1_ENST00000338799.5_Missense_Mutation_p.R243C|ESR1_ENST00000544394.1_Missense_Mutation_p.R70C|ESR1_ENST00000206249.3_Missense_Mutation_p.R243C|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R243C|ESR1_ENST00000443427.1_Missense_Mutation_p.R243C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	243	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTGCCGGCTCCGTAAATGCTA	0.547000													15	36					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404664	20404664	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:20404664C>T	ENST00000285600.4	+	1	898	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTGTACTCCCTTGTTGAAC	0.418000													20	256					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000													18	63					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53215257	53215257	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:53215257C>T	ENST00000394729.2	+	4	678	c.350C>T	c.(349-351)tCt>tTt	p.S117F	PRKCD_ENST00000330452.3_Missense_Mutation_p.S117F	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	117					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTGTTGATGTCTGTTCAGTAT	0.617000													10	42					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117108984	117108984	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:117108984G>A	ENST00000307564.4	-	17	3640	c.3479C>T	c.(3478-3480)tCc>tTc	p.S1160F	AKNA_ENST00000374075.5_Missense_Mutation_p.S1079F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1160F|AKNA_ENST00000374079.4_Missense_Mutation_p.S105F|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.S620F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGCACTGAGGAAGACCTGGC	0.547000													20	70					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457192	110457192	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:110457192C>T	ENST00000378402.5	+	38	5198	c.5094C>T	c.(5092-5094)ttC>ttT	p.F1698F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1698	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1701fs*7(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGGTCATTTCCCATGTAAAG	0.438000										HNSCC(38;0.096)			39	149					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688321	55688321	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55688321C>T	ENST00000358433.2	-	1	695	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGCTTTGTTCCTTTGCTGTG	0.393000													16	69					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709814	23709814	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:23709814C>T	ENST00000290271.2	-	2	485	c.202G>A	c.(202-204)Gat>Aat	p.D68N	STC1_ENST00000524323.1_5'UTR	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	68					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TACATCCCATCTGTGTCACAG	0.493000													29	98					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402473	248402473	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:248402473G>A	ENST00000306687.1	+	1	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACCCAAGATGATCTTCAGCT	0.463000													27	115					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521406	131521406	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:131521406G>A	ENST00000423981.1	+	2	1871	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G	AMER3_ENST00000321420.4_Silent_p.G587G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCCTCGGAGGGGCCACACAAG	0.642000													13	62					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57011995	57011995	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:57011995T>C	ENST00000370706.4	+	10	1356	c.1112T>C	c.(1111-1113)tTt>tCt	p.F371S	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.F371S|ZNF451_ENST00000491832.2_Missense_Mutation_p.F371S|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATCAAGTCTTTGTGGATGAA	0.423000													19	87					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24300070	24300070	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24300070C>G	ENST00000175238.6	+	2	220	c.137C>G	c.(136-138)aCc>aGc	p.T46S	ADAM7_ENST00000380789.1_Missense_Mutation_p.T46S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.T46S|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTGGACACACCCATGATGAT	0.408000													35	159					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913710	77913710	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:77913710G>A	ENST00000321110.1	-	2	503	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	70	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGCTGGGGGATTCATGTGC	0.587000													4	6					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085958	55085958	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55085958C>T	ENST00000251377.3	+	4	394	c.261C>T	c.(259-261)atC>atT	p.I87I	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.I87I|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.I87I|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.I75I					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCCATCCATCACCTGGGAAC	0.527000													10	93					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753835	47753835	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:47753835G>A	ENST00000398545.4	-	8	1578	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	487										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GGACCTCCTGGACCTTGTCCA	0.517000													18	68					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129823	1129823	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:1129823C>T	ENST00000293897.4	+	1	1043	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.L319L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	319					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAGAAGGTTCTGTGCCTCCG	0.642000													3	28					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212677	105212677	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:105212677G>A	ENST00000332972.5	+	12	1564	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ADSSL1_ENST00000556623.1_Missense_Mutation_p.A32T|ADSSL1_ENST00000330877.2_Missense_Mutation_p.A426T|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Missense_Mutation_p.A32T	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	426					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GCCCCCACAGGCCCAGAACTA	0.627000													5	41					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179205	100179205	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:100179205G>A	ENST00000527185.1	+	21	3074	c.2735G>A	c.(2734-2736)tGa>tAa	p.*912*	CNTN5_ENST00000524871.1_Intron|CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Intron|CNTN5_ENST00000524560.1_Intron	NM_001243271.1	NP_001230200.1	O94779	CNTN5_HUMAN	contactin 5	0	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGAGGTATGAACAGAATGA	0.398000													4	28					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70710060	70710060	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:70710060C>T	ENST00000226444.3	-	7	704		c.e7-1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCTGATATCCTAGGGAGAGA	0.338000													13	32					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105243202	105243202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:105243202G>A	ENST00000306107.5	+	3	744	c.244G>A	c.(244-246)Gat>Aat	p.D82N	ALCAM_ENST00000472644.2_Missense_Mutation_p.D82N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.D31N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	82	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GCAGTACGACGATGTACCAGA	0.363000													11	71					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859026	72859026	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:72859026G>A	ENST00000442102.2	-	12	1604	c.1518C>T	c.(1516-1518)gcC>gcT	p.A506A	FDXR_ENST00000582944.1_Silent_p.A455A|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000293195.5_Silent_p.A463A|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000413947.2_Silent_p.A494A	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	463					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTCCTCGGCATCCAGCT	0.657000													29	93					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75913830	75913830	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:75913830T>A	ENST00000296641.4	-	2	905	c.702A>T	c.(700-702)gaA>gaT	p.E234D	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E212D|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	234					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CAAGATAATATTCCTGCTTCA	0.468000													3	47					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74651883	74651883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:74651883G>A	ENST00000340360.6	-	3	372	c.41C>T	c.(40-42)cCt>cTt	p.P14L	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.P14L	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	14					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTTCAGGTAAGGCTTCCCATC	0.517000													8	14					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221458	55221458	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55221458G>A	ENST00000413439.1	+	0	1238																											GTACAAGGAGGGGGGACATGA	0.657000													13	40					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006178	161006178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:161006178G>A	ENST00000447678.1	-	27	4309	c.4189C>T	c.(4189-4191)Cga>Tga	p.R1397*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1397*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3905	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGTGCCTCGATAACTCTGT	0.463000													55	193					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920144	5920144	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:5920144A>C	ENST00000399933.3	-	8	5851	c.5852T>G	c.(5851-5853)tTa>tGa	p.L1951*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.L1921*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1951										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGGCCACTTAAGGAATTATT	0.398000													30	69					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011438	138011438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:138011438C>T	ENST00000252854.4	+	6	1005	c.818C>T	c.(817-819)tCc>tTc	p.S273F	OLFM1_ENST00000371796.3_Missense_Mutation_p.S264F|OLFM1_ENST00000371793.3_Missense_Mutation_p.S291F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	291	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AATTTCACCTCCCACCGTCTC	0.532000													30	83					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775665	77775665	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77775665G>A	ENST00000521891.2	+	11	10163	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3194N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3190N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3213N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACATGTCGATCCTATTCA	0.448000										HNSCC(33;0.089)			25	130					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66207884	66207884	+	Nonstop_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:66207884C>A	ENST00000360698.4	-	19	2767	c.2627G>T	c.(2626-2628)tGa>tTa	p.*876L	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.M799I|MEGF11_ENST00000288745.3_Missense_Mutation_p.M724I|MEGF11_ENST00000409699.2_Missense_Mutation_p.M799I|MEGF11_ENST00000395625.2_Missense_Mutation_p.M724I			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	0						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGAGTTGTTCATGCACTCAC	0.552000													4	37					1	1	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10912933	10912933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:10912933G>A	ENST00000283141.6	+	13	1242	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SYCP2L_ENST00000543878.1_Missense_Mutation_p.E157K|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	316						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGAAAAATTAGAGAAATTTTG	0.353000													17	63					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001366	95001366	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:95001366G>A	ENST00000357742.4	+	19	2251	c.2250_splice	c.e19-1	p.E751_splice	MCTP2_ENST00000451018.3_Splice_Site_p.E696_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	751					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTTTTCTAGGAATCTGAGAA	0.299000													4	52					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120185	38120185	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38120185C>T	ENST00000406386.3	+	7	1877	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	541					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCTCCCAATAGAGCT	0.587000													23	258					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182658	112182658	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:112182658T>C	ENST00000455480.2	+	14	2196	c.2019T>C	c.(2017-2019)gcT>gcC	p.A673A	ACAD10_ENST00000549590.1_Silent_p.A642A|ACAD10_ENST00000313698.4_Silent_p.A642A|ACAD10_ENST00000392636.2_Silent_p.A244A|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	642							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCAGAAGCTTCCCCAGCTC	0.572000													5	79					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056253	44056253	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:44056253G>A	ENST00000262887.5	-	9	1545	c.998C>T	c.(997-999)cCc>cTc	p.P333L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P302L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	333	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGAGCGGAAGGGGTTCTGGAA	0.647000								Other BER factors					21	81					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539790	55539790	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55539790C>T	ENST00000220676.1	+	4	3496	c.3348C>T	c.(3346-3348)ccC>ccT	p.P1116P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1116					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGTGTTCCCTTTCATTCTG	0.423000													9	47					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545384	151545384	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151545384C>T	ENST00000232892.6	+	5	750	c.624C>T	c.(622-624)gtC>gtT	p.V208V	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	208					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCCAGATGTCAAGATCAAAC	0.318000													7	52					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22846947	22846947	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:22846947C>T	ENST00000283645.4	+	8	952	c.822C>T	c.(820-822)acC>acT	p.T274T	TUBGCP5_ENST00000453949.2_Silent_p.T274T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	274					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCGGGAAACCCTATGGTAAG	0.358000													11	66					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758052	8758052	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8758052G>A	ENST00000229335.6	-	3	289	c.186C>T	c.(184-186)ctC>ctT	p.L62L	AICDA_ENST00000537228.1_Silent_p.L62L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	62					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGATGTAGCGGAGGAAGAGCA	0.577000													17	87					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43656348	43656348	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:43656348G>A	ENST00000396976.2	-	4	1589	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P	ZSCAN29_ENST00000562072.1_Silent_p.P484P|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTCAAAGAAGGGACAGGTCT	0.537000													13	112					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41895271	41895271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:41895271C>T	ENST00000230340.4	+	2	803	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	143					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACCCTCCTGCCAGGTAGGCC	0.517000													23	95					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:53543377C>T	ENST00000371500.3	+	9	1187	c.846C>T	c.(844-846)atC>atT	p.I282I	PODN_ENST00000395871.2_Silent_p.I159I|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.I301I	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGAGAAGATCCCCCCGGGGG	0.617000													19	221					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2063806	2063806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:2063806C>T	ENST00000262113.4	+	26	3376	c.3235C>T	c.(3235-3237)Cga>Tga	p.R1079*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.R504*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1079					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGTGATGGATCGATTTAGTAT	0.378000													22	100					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489289	42489289	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42489289G>A	ENST00000545399.1	-	8	966	c.813C>T	c.(811-813)ggC>ggT	p.G271G	ATP1A3_ENST00000602133.1_Silent_p.G228G|ATP1A3_ENST00000543770.1_Silent_p.G269G|ATP1A3_ENST00000302102.5_Silent_p.G258G	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	258					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGGCGATACGGCCCATGACAG	0.667000													7	37					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51857446	51857446	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:51857446G>A	ENST00000453097.2	+	11	1514	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	SLC4A8_ENST00000394856.1_Missense_Mutation_p.E380K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E380K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E460K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E380K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	433					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGCCACATAGAACAGGAACC	0.458000													11	75					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24242875	24242875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:24242875C>T	ENST00000382263.3	+	9	1068	c.884C>T	c.(883-885)tCc>tTc	p.S295F	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.S163F|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.S295F|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.S295F	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	295					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTCTTCGGATCCCTCACGCAG	0.493000													18	139					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196748424	196748424	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:196748424G>A	ENST00000471440.2	+	2	265	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CFHR3_ENST00000391985.3_Missense_Mutation_p.G64E|CFHR3_ENST00000367425.4_Missense_Mutation_p.G64E					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ACTCCTTCAGGAAGTTACTGG	0.393000													18	137					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576996	71576996	+	Silent	SNP	C	C	T	rs145388354		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71576996C>T	ENST00000409544.1	+	2	1542	c.912C>T	c.(910-912)gtC>gtT	p.V304V	ZNF638_ENST00000355812.3_Silent_p.V304V|ZNF638_ENST00000377802.2_Silent_p.V304V|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.V304V	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	304					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GACAGTCAGTCCTTGAACCCA	0.438000													15	143					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696606	20696606	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:20696606C>T	ENST00000307493.4	-	2	379	c.312G>A	c.(310-312)caG>caA	p.Q104Q	ACSM1_ENST00000520010.1_Silent_p.Q104Q|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	104					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGCCACAGGTCTGTGTGAAGA	0.557000													16	107					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70597602	70597602	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:70597602C>T	ENST00000449580.1	+	6	912	c.861C>T	c.(859-861)agC>agT	p.S287S	TAF1_ENST00000373790.4_Silent_p.S287S|TAF1_ENST00000423759.1_Silent_p.S308S|TAF1_ENST00000276072.3_Silent_p.S308S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	287	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGAAGTCAGCCAGAAGTCTT	0.507000													18	33					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647845	121647845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:121647845C>T	ENST00000489711.1	+	16	1746	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.S422F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	453					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCACACTATTCCAAACTGCAC	0.403000													20	121					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723968	88723968	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:88723968C>T	ENST00000301012.3	-	4	308	c.279G>A	c.(277-279)cgG>cgA	p.R93R	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	93					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTGAGTTCCTCCGCTTCCGGG	0.697000													11	67					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158182172	158182172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:158182172G>A	ENST00000397283.2	-	2	255	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	ERMN_ENST00000420719.2_5'UTR|ERMN_ENST00000409216.1_5'UTR|ERMN_ENST00000410096.1_5'UTR	NM_001009959.1	NP_001009959.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	0						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GGTTGAATCCGATCTGGAGAG	0.448000													19	137					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093774	40093774	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:40093774G>A	ENST00000299092.3	-	4	1302	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	GPR176_ENST00000561100.1_Silent_p.L369L|GPR176_ENST00000543580.1_Silent_p.L324L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	369					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ACATCTCCAGGAGCTGGCTAC	0.567000													17	132					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185906104	185906104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:185906104G>A	ENST00000265022.3	-	22	2521	c.1982C>T	c.(1981-1983)cCc>cTc	p.P661L	DGKG_ENST00000344484.4_Missense_Mutation_p.P636L|DGKG_ENST00000544847.1_Missense_Mutation_p.P602L|DGKG_ENST00000382164.4_Missense_Mutation_p.P622L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	661					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTACATGCTGGGAATGTTGAG	0.527000													15	84					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870625	51870625	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:51870625A>G	ENST00000371497.5	+	2	1515	c.628A>G	c.(628-630)Aca>Gca	p.T210A	TSHZ2_ENST00000329613.6_Missense_Mutation_p.T207A|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T207A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	210					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GACTGTGTTCACAGGGGCCAG	0.572000													12	53					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705894	65705894	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:65705894C>T	ENST00000304842.5	+	2	907	c.482C>T	c.(481-483)cCt>cTt	p.P161L	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	161					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATAAAGATCCTTTTGCCCTG	0.423000													7	49					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217688184	217688184	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:217688184G>A	ENST00000366935.3	-	6	1256	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	382						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GAGAATCCGGGGAAAAATGAA	0.353000													4	55					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196215503	196215503	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:196215503C>T	ENST00000318037.3	-	2	947	c.353G>A	c.(352-354)aGa>aAa	p.R118K		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	118	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTCATATTCTCTTCTCAGTTC	0.308000													12	36					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233407617	233407617	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:233407617C>T	ENST00000389494.3	+	7	651	c.630C>T	c.(628-630)caC>caT	p.H210H	CHRNG_ENST00000389492.3_Silent_p.H158H	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	210					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCATCCAGCACCGACCAGCCA	0.647000													4	32					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480303	10480303	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10480303C>T	ENST00000382483.3	-	2	632	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	137					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGGGCTTCACGCTGGCCT	0.602000													14	49					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269283	63269283	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:63269283G>A	ENST00000322893.7	-	9	1854	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	KCNH5_ENST00000420622.2_Missense_Mutation_p.P529L|KCNH5_ENST00000394968.1_Missense_Mutation_p.P471L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	529					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGTCCTTGGGACAGATGGA	0.438000													6	23					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631290	179631290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:179631290G>A	ENST00000444136.1	+	15	2624	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	TDRD5_ENST00000367614.1_Missense_Mutation_p.D738N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D738N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	790					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATAGGTGATGATATTTGGGA	0.423000													24	118					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232261	113232261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:113232261C>T	ENST00000369644.1	+	5	1427	c.398C>T	c.(397-399)cCa>cTa	p.P133L	MOV10_ENST00000369645.1_Missense_Mutation_p.P189L|MOV10_ENST00000357443.2_Missense_Mutation_p.P189L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.P189L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	189					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTGCCCTGTCCACTGGGCCCC	0.557000													10	127					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322465	31322465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:31322465G>A	ENST00000269053.3	+	2	143	c.73G>A	c.(73-75)Gga>Aga	p.G25R	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	25					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TTCTGTGAGTGGACCACGGAG	0.617000													16	135					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941471	144941471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144941471C>T	ENST00000525985.1	-	2	6022	c.5951G>A	c.(5950-5952)gGa>gAa	p.G1984E				P58107	EPIPL_HUMAN	epiplakin 1	1984						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATCGTGTCTCCTGTGGCCGG	0.642000													9	61					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262024	140262024	+	Silent	SNP	G	G	A	rs141467715		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140262024G>A	ENST00000289272.2	+	1	171	c.171G>A	c.(169-171)gcG>gcA	p.A57A	PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.A57A|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.612000													9	88					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571322	155571322	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155571322C>A	ENST00000392845.2	-	1	845	c.465G>T	c.(463-465)atG>atT	p.M155I	SLC33A1_ENST00000359479.3_Missense_Mutation_p.M155I	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	155					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAAATAGATCATGAAGAGTC	0.468000													10	62					3.86212e-05	3.89339e-05	1	1	0
OSMR	9180	broad.mit.edu	37	5	38921764	38921764	+	Silent	SNP	C	C	T	rs61747090		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:38921764C>T	ENST00000274276.3	+	12	2035	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	545	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGGATTCTCTCTGTCTTGGAA	0.428000													38	115					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940896	22940896	+	Silent	SNP	G	G	A	rs79080989		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22940896G>A	ENST00000397104.3	-	5	1541	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZNF99_ENST00000596209.1_Silent_p.F605F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAGAAGTGGTTAA	0.378000													7	49					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875154	27875154	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:27875154G>T	ENST00000374011.2	-	6	4441	c.3473C>A	c.(3472-3474)gCt>gAt	p.A1158D	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A1158D	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1158							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTCCGACACAGCCGTCTGCTG	0.582000													26	102					1.08312e-15	1.10441e-15	1	1	0
CD40	958	broad.mit.edu	37	20	44750538	44750538	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:44750538G>A	ENST00000372285.3	+	2	202		c.e2+1		CD40_ENST00000372276.3_Splice_Site|CD40_ENST00000489304.1_Splice_Site	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5						B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TGCCAGCCAGGTGAGATGCCA	0.478000									Immune Deficiency with Hyper-IgM				12	77					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247987	5247987	+	Silent	SNP	G	G	A	rs35811659		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5247987G>A	ENST00000335295.3	-	2	310	c.135C>T	c.(133-135)tcC>tcT	p.S45S		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	45			S -> C (in Mississippi).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GATCCCCAAAGGACTCAAAGA	0.527000									Sickle Cell Trait				10	75					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259672	16259672	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:16259672C>T	ENST00000205557.7	-	23	3143	c.3114G>A	c.(3112-3114)cgG>cgA	p.R1038R		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1038	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAATGGGTGTCCGCTCAAAGA	0.587000													9	67					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841617	44841617	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:44841617G>A	ENST00000270162.6	-	5	532	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	134	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						ACGGCCGACAGGATTTGCCAG	0.562000													9	38					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079834	29079834	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29079834C>T	ENST00000377169.1	+	1	167	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TACCTGGACTCCCATCTGCAC	0.453000													50	248					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711477	31711477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:31711477G>A	ENST00000320027.5	-	18	2899	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F	HSPH1_ENST00000380406.5_Missense_Mutation_p.S811F|HSPH1_ENST00000445273.2_Missense_Mutation_p.S854F|HSPH1_ENST00000429785.2_Missense_Mutation_p.S671F|HSPH1_ENST00000380405.4_Missense_Mutation_p.S808F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	852					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.S852Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CATATTAACAGAATTTTTCTC	0.308000													12	97					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53126799	53126799	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:53126799C>T	ENST00000276480.7	-	7	702	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	7						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCGTTTTATCTTCAGCCTCT	0.428000													28	93					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													5	33					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139727077	139727077	+	Splice_Site	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:139727077A>C	ENST00000263549.3	-	10	2500	c.1628_splice	c.e10+1	p.W543_splice		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	543	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAACGCACCACTGGTAGACT	0.562000													4	92					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19068000	19068000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:19068000C>T	ENST00000421369.3	+	14	2236	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S	TMC7_ENST00000304381.5_Missense_Mutation_p.P670S|TMC7_ENST00000569532.1_Missense_Mutation_p.P670S	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	670						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTTGCAGTTCCTTTCTTCAT	0.587000													16	99					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10342589	10342589	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:10342589C>T	ENST00000298530.3	+	4	920	c.342C>T	c.(340-342)acC>acT	p.T114T	TMEM52B_ENST00000536952.1_Silent_p.T134T|TMEM52B_ENST00000381923.2_Silent_p.T134T	NM_153022.2	NP_694567.1			transmembrane protein 52B																		CTTTGGACACCCTCCCAGGGT	0.587000													8	47					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86920909	86920909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:86920909C>T	ENST00000370565.4	+	14	2693	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	844					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCCCAAATTTCCACGAATGGA	0.403000													16	84					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357043	13357043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:13357043C>T	ENST00000276297.4	-	2	947	c.538G>A	c.(538-540)Gag>Aag	p.E180K	DLC1_ENST00000511869.1_Missense_Mutation_p.E180K|DLC1_ENST00000316609.5_Missense_Mutation_p.E180K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	180					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.E180K(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACTTTTCTCTCCCCACTTTCT	0.388000													21	124					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879518	94879518	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94879518G>A	ENST00000289495.5	+	8	2497	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E761K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E783K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E761K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	761	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGGCCTTGGAAAAGAAATA	0.373000										HNSCC(28;0.073)			10	65					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24975609	24975609	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:24975609G>A	ENST00000289968.6	-	7	551	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S161F|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.S161F|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	161	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTTCCTGAGGATTTGTGAGC	0.458000													20	106					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71528350	71528350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:71528350C>T	ENST00000261413.5	-	7	550	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MRPS27_ENST00000515404.1_Missense_Mutation_p.E115K|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.E185K|MRPS27_ENST00000457646.4_Missense_Mutation_p.E115K	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	171						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCAAAGGCTTCTTGCATCATG	0.373000													6	62					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5667130	5667130	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:5667130C>T	ENST00000292123.5	+	18	2515	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SAFB_ENST00000592224.1_Missense_Mutation_p.S802F|SAFB_ENST00000538656.1_Missense_Mutation_p.S645F|SAFB_ENST00000588852.1_Missense_Mutation_p.S803F|SAFB_ENST00000454510.1_Missense_Mutation_p.S734F|SAFB_ENST00000433404.1_Missense_Mutation_p.S633F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	803	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGCTATGGCTCTGACAAGAGG	0.677000													9	42					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621256	69621256	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:69621256G>A	ENST00000337103.4	+	8	2528	c.936G>A	c.(934-936)agG>agA	p.R312R	C8orf34_ENST00000325233.3_Silent_p.R81R|C8orf34_ENST00000518698.1_Silent_p.R423R|C8orf34_ENST00000539993.1_Silent_p.R337R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	337					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGAAGAAAGGACAGAAGAGT	0.358000													3	29					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657345	143657345	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143657345C>T	ENST00000392899.1	+	1	319	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCATCCCATTCCAGAGCTGTG	0.517000													36	204					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667452	50667452	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:50667452C>T	ENST00000268459.3	+	10	1397	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	391					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CGGCCCTCCTCCCCTCCCTAG	0.721000													3	18					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:79281235C>T	ENST00000442340.1	+	5	722	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	TBX22_ENST00000373296.3_Missense_Mutation_p.R198C|TBX22_ENST00000373291.1_Missense_Mutation_p.R78C|TBX22_ENST00000373294.5_Missense_Mutation_p.R198C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527000													7	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058283	9058283	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9058283C>T	ENST00000397910.4	-	3	29366	c.29163G>A	c.(29161-29163)gtG>gtA	p.V9721V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9723	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTTGTTTCCACAAAGCGAG	0.493000													5	30					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:6426893C>T	ENST00000348035.4	+	2	299	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_ENST00000356142.4_Missense_Mutation_p.P29L|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000													21	126					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56082721	56082721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:56082721G>A	ENST00000395471.3	-	7	1370	c.565C>T	c.(565-567)Cct>Tct	p.P189S	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.P189S			P78330	SERB_HUMAN	phosphoserine phosphatase	189					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATACAGCAGGAGGACAGGCT	0.294000													18	83					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286265	57286265	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286265C>T	ENST00000391708.3	-	12	1917	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	ZIM2_ENST00000601070.1_Missense_Mutation_p.D459N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D459N|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.D459N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D459N	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCAACGTAGTCATGTTTCCGC	0.468000													14	58					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52456844	52456844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52456844G>A	ENST00000327906.3	+	10	1526	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PHF7_ENST00000347025.2_Missense_Mutation_p.R250K|PHF7_ENST00000478707.1_Missense_Mutation_p.R289K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	289						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCCTCTCTTAGATCTAACAGT	0.577000													38	171					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27098701	27098701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:27098701G>A	ENST00000350889.4	-	5	382	c.269C>T	c.(268-270)tCc>tTc	p.S90F	STMN4_ENST00000522908.1_Missense_Mutation_p.S90F|STMN4_ENST00000519614.1_Missense_Mutation_p.S63F|STMN4_ENST00000519997.1_Missense_Mutation_p.S54F|STMN4_ENST00000523048.1_Missense_Mutation_p.S90F|STMN4_ENST00000265770.7_Missense_Mutation_p.S63F	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	63					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GACTTCAAAGGATTGGCCCGA	0.567000													29	117					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327463	28327463	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:28327463T>G	ENST00000377255.3	+	3	397	c.100T>G	c.(100-102)Ttt>Gtt	p.F34V	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.F34V	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	34			F -> L (in dbSNP:rs3857555).		positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAAGCCGGTTTTCCCAGTAG	0.597000													16	111					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441589	79441589	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:79441589C>T	ENST00000376718.3	-	5	691	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PRUNE2_ENST00000376713.3_Missense_Mutation_p.E190K|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	190					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAGAATTTCCTCCTGCTTC	0.433000													14	65					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117679018	117679018	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:117679018A>G	ENST00000368508.3	-	24	4001	c.3803T>C	c.(3802-3804)aTt>aCt	p.I1268T	ROS1_ENST00000368507.3_Missense_Mutation_p.I1263T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1268					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTATTGTGAATCTTCACCTC	0.313000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	29					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001634	172001634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:172001634C>T	ENST00000358155.4	+	5	858	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	DNM3_ENST00000367731.1_Missense_Mutation_p.R228C|DNM3_ENST00000367733.2_Missense_Mutation_p.R228C|DNM3_ENST00000520906.1_Missense_Mutation_p.R228C|DNM3_ENST00000355305.5_Missense_Mutation_p.R228C	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	228					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTGCCTCTTCGCAGGGGTAA	0.393000													25	120					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572004	186572004	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:186572004A>G	ENST00000412955.2	+	3	387	c.246A>G	c.(244-246)gaA>gaG	p.E82E	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.E82E|ADIPOQ_ENST00000444204.2_Silent_p.E82E			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	82	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		ACATCGGTGAAACCGGAGTAC	0.512000													9	61					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640269	7640269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7640269C>T	ENST00000396620.3	-	7	1920	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	CD163_ENST00000432237.2_Splice_Site_p.R579_splice|CD163_ENST00000359156.4_Splice_Site_p.R579_splice|CD163_ENST00000541972.1_Splice_Site_p.R567_splice			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCTGTGTATCCTGGAAGGAG	0.488000													17	88					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15484782	15484782	+	Silent	SNP	C	C	T	rs114906270	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:15484782C>T	ENST00000269701.2	-	4	246	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	62					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATCATTGGCCTTGGCGGCCT	0.607000													6	34					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133668	74133668	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:74133668C>T	ENST00000322957.6	-	3	1386	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	344					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTGAGGTCCACGTCCACGT	0.697000													3	14					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604014	95604014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:95604014G>A	ENST00000343958.4	-	2	1269	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	FGD6_ENST00000549499.1_Missense_Mutation_p.S349F|FGD6_ENST00000546711.1_Missense_Mutation_p.S349F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	349	Poly-Ser.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTAAGACAGGAAGAGCTACT	0.403000													17	101					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660782	117660782	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:117660782G>A	ENST00000256649.4	-	2	1622	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	TRIM45_ENST00000369461.3_Missense_Mutation_p.P309S|TRIM45_ENST00000369464.3_Missense_Mutation_p.P366S	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	366						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TTTACTCCAGGACGGGTGCTA	0.488000													38	109					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083141	8083141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8083141G>A	ENST00000075120.7	-	5	848	c.608C>T	c.(607-609)cCa>cTa	p.P203L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	203					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGGGCAAAATGGAAGGGCTGC	0.433000													29	121					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304901	117304901	+	Missense_Mutation	SNP	C	C	T	rs146947665	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:117304901C>T	ENST00000003084.6	+	25	4255	c.4123C>T	c.(4123-4125)Cat>Tat	p.H1375Y	CFTR_ENST00000454343.1_Missense_Mutation_p.H1314Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1375	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACCCAGTGCTCATTTGGATCC	0.458000									Cystic Fibrosis				34	181					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736351	24736351	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:24736351G>A	ENST00000483544.1	-	0	751					NR_029451.2																						GGGGCACGTAGAACCTGAGAC	0.557000													6	22					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:110919263G>A	ENST00000316534.4	-	10	1112	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R291*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R290*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R346*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R228*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000													3	33					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869853	4869853	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4869853C>T	ENST00000322101.2	-	1	661	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGGGCAGGCCAAACGAGCC	0.542000													25	98					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438694	58438694	+	Silent	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58438694A>T	ENST00000396147.1	-	4	1146	c.855T>A	c.(853-855)ccT>ccA	p.P285P	ZNF418_ENST00000595830.1_Silent_p.P285P|ZNF418_ENST00000599852.1_Silent_p.P200P|ZNF418_ENST00000425570.3_Silent_p.P306P|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P285P(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CACATTCATAAGGTCTTTTCC	0.433000													21	186					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537050	118537050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:118537050C>T	ENST00000336338.5	-	35	5222	c.5157G>A	c.(5155-5157)tgG>tgA	p.W1719*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1719						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAATGTTTCCCATGACCTTG	0.418000													10	102					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978286	45978286	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:45978286A>T	ENST00000391620.1	-	1	357	c.313T>A	c.(313-315)Tgc>Agc	p.C105S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	105	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						actggcttgcagcagacaggc	0.647000													24	295					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470725	7470725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7470725G>A	ENST00000399422.4	+	5	916	c.868G>A	c.(868-870)Gcc>Acc	p.A290T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	290					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCTGTGTGGAGCCTGTGTTTT	0.478000													12	82					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358037	57358037	+	Missense_Mutation	SNP	C	C	T	rs146401083	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:57358037C>T	ENST00000374900.4	+	4	539	c.419C>T	c.(418-420)cCc>cTc	p.P140L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	140						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTAGGAATGCCCAATTCTTCT	0.423000										HNSCC(52;0.14)			13	31					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753125	10753125	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:10753125T>C	ENST00000586078.1	+	21	2121	c.2012T>C	c.(2011-2013)tTc>tCc	p.F671S	SLC44A2_ENST00000335757.5_Missense_Mutation_p.F671S|SLC44A2_ENST00000407327.4_Missense_Mutation_p.F669S	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	671					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TTCCTCTGCTTCTGTGAGTGA	0.572000													6	54					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233932	38233932	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:38233932G>A	ENST00000558158.1	+	8	658		c.e8+1		TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CTACATAAAGGTAGAGCTTCT	0.363000													4	73					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800796	153800796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:153800796G>A	ENST00000368655.4	-	2	271	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	10						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGATTCAAGCGAAGAGCATCT	0.433000													22	105					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011065	40011065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:40011065G>A	ENST00000315792.3	+	1	77	c.14G>A	c.(13-15)cGa>cAa	p.R5Q		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	5					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGCAAAGCGAAGCCACCAA	0.517000													19	59					0	0	1	0	0
HBEGF	1839	broad.mit.edu	37	5	139725585	139725585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:139725585G>A	ENST00000230990.6	-	2	433	c.131C>T	c.(130-132)aCt>aTt	p.T44I	HBEGF_ENST00000507104.1_Missense_Mutation_p.T44I	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	44					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGATACAGTGGGAGGGTC	0.642000											OREG0016844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	41					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790133	20790133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:20790133G>A	ENST00000359062.3	+	9	2141	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	701					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGATTTAGTGGAAAATATAGG	0.348000													7	39					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222476	27222476	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:27222476C>T	ENST00000230582.3	+	10	1170	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.V128V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	385					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACACAGATGTCACCTGTGAGA	0.507000													37	172					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072326	9072326	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9072326G>A	ENST00000397910.4	-	3	15323	c.15120C>T	c.(15118-15120)ccC>ccT	p.P5040P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5042	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAAGGAAGAGGGGGAGCTGG	0.468000													8	29					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883249	48883249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:48883249C>T	ENST00000262105.2	+	11	1822	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.S538F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	538	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGAAGGGCTCCAGTGCAGTT	0.582000													7	57					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129771314	129771314	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:129771314C>T	ENST00000338144.3	-	12	1704	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	ENOX2_ENST00000370935.1_Silent_p.R400R|ENOX2_ENST00000370927.1_Silent_p.R429R|ENOX2_ENST00000394363.1_Silent_p.R400R	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	429					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTACTTCATTCCGGTAGGCAT	0.448000													38	84					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833380	116833380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:116833380C>T	ENST00000368599.3	+	1	572	c.521C>T	c.(520-522)tCc>tTc	p.S174F	TRAPPC3L_ENST00000356128.4_5'UTR|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	174						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CTGAAACTCTCCCTTCAGGCC	0.468000													16	73					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32808805	32808805	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:32808805C>T	ENST00000380250.3	+	42	6118	c.5622C>T	c.(5620-5622)ttC>ttT	p.F1874F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCAGATATTCCGGGCCCTCA	0.517000													8	52					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059501	248059501	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:248059501G>A	ENST00000537741.1	+	3	870	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	OR2W3_ENST00000360358.3_Missense_Mutation_p.G205S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGCGGTGGGTGTTGTGCT	0.577000													53	174					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723654	58723654	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58723654T>C	ENST00000326804.4	+	9	1563	c.1104T>C	c.(1102-1104)gaT>gaC	p.D368D	ZNF274_ENST00000424679.2_Silent_p.D263D|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.D336D	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	369					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CATTAGAAGATACCTTGCAGG	0.483000													9	38					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193130071	193130071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:193130071C>T	ENST00000342695.4	-	27	3426	c.3104G>A	c.(3103-3105)aGt>aAt	p.S1035N	ATP13A4_ENST00000400270.2_Missense_Mutation_p.S51N|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S1016N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1035					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTTCTCAAAACTTGTGAAGGT	0.398000													40	235					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449026	89449026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:89449026G>A	ENST00000399794.2	-	3	1199	c.484C>T	c.(484-486)Cct>Tct	p.P162S	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P162S|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	162							nucleotide binding|RNA binding										GATCTCTTAGGAGAAGGACCC	0.498000													29	121					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65944316	65944316	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:65944316A>G	ENST00000321892.4	+	25	8259	c.8198A>G	c.(8197-8199)aAt>aGt	p.N2733S	BPTF_ENST00000335221.5_Missense_Mutation_p.N2590S|BPTF_ENST00000306378.6_Missense_Mutation_p.N2607S|BPTF_ENST00000424123.3_Missense_Mutation_p.N2451S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2733					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCAAGCAGAATGCCACTAAG	0.443000													5	63					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28971362	28971362	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:28971362A>G	ENST00000377179.3	-	3	531	c.19T>C	c.(19-21)Ttg>Ctg	p.L7L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CTCTCATCCAACAGCACAACC	0.483000													27	161					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758680	54758680	+	Silent	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54758680T>G	ENST00000450632.1	-	6	1223	c.1146A>C	c.(1144-1146)ggA>ggC	p.G382G	LILRB5_ENST00000449561.2_Silent_p.G391G|LILRB5_ENST00000345866.6_Silent_p.G291G|LILRB5_ENST00000316219.5_Silent_p.G391G			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	391	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCGGTAGGTTCCACCCTGGG	0.587000													5	77					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128227	152128227	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152128227G>A	ENST00000316073.3	-	3	1412	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	450	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAGTGGGAATTCTGG	0.537000													220	995					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183574987	183574987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:183574987G>A	ENST00000511685.1	+	6	1175	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	TENM3_ENST00000406950.2_Missense_Mutation_p.G351E					teneurin transmembrane protein 3																		TTTGAGAATGGAAAAGTGAAT	0.398000													14	43					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415770	65415770	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:65415770G>T	ENST00000330909.8	-	12	1591	c.1592C>A	c.(1591-1593)aCa>aAa	p.T531K	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.T531K|MAGI1_ENST00000483466.1_Missense_Mutation_p.T531K|MAGI1_ENST00000497477.2_Missense_Mutation_p.T531K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	531	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGAGCATGTGTGTGTCCCAA	0.478000													13	62					2.23348e-06	2.25889e-06	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238287818	238287818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:238287818G>A	ENST00000295550.4	-	6	2410	c.1958C>T	c.(1957-1959)aCc>aTc	p.T653I	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.T246I|COL6A3_ENST00000353578.4_Missense_Mutation_p.T447I|COL6A3_ENST00000392004.3_Missense_Mutation_p.T447I|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.T452I|COL6A3_ENST00000409809.1_Missense_Mutation_p.T447I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	653	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGAAATTGGTTTTTCCAAC	0.378000													4	69					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35579933	35579933	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:35579933G>A	ENST00000262878.4	-	1	313	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	38					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTCGGGATGGAGTTCCAGGC	0.632000													52	276					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995024	18995024	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:18995024G>A	ENST00000427170.2	-	3	533	c.462C>T	c.(460-462)ctC>ctT	p.L154L	CERS1_ENST00000429504.2_Silent_p.L154L|CERS1_ENST00000542296.2_Silent_p.L56L|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	154	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						AGCTTCCCTGGAGCAGGTAGG	0.607000													5	22					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165846588	165846588	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:165846588C>T	ENST00000366882.1	-	8	691	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PDE10A_ENST00000539869.2_Silent_p.L189L|PDE10A_ENST00000354448.4_Silent_p.L179L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	179	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCCTGATTCCAGTCCAGTAC	0.393000													8	42					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244204	100244204	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100244204G>A	ENST00000160382.5	-	12	1189	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	361					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTCTCGATTGAGCCTGTCAG	0.632000													11	116					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955042	21955042	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:21955042C>T	ENST00000289921.7	+	4	359	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	105										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCCAGGCATGCGGCAGCAGGT	0.672000													3	19					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187663	57187663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57187663G>A	ENST00000331162.4	-	5	1729	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTA	0.398000													11	70					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798721	12798721	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:12798721G>A	ENST00000381774.4	-	3	715	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	159							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ACCAGGAACAGGACGCCCCCG	0.617000													8	73					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1791840	1791840	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:1791840G>A	ENST00000539485.1	-	20	2474	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ATP8B3_ENST00000525591.1_Silent_p.I700I|ATP8B3_ENST00000310127.6_Silent_p.I737I			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGTCCTCGATGGCTGTGG	0.627000													10	37					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879126	879126	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:879126G>A	ENST00000342066.3	+	13	1821	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	580	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTGCTGACGGAGGAGCACCT	0.672000													9	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419962	25419962	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:25419962C>T	ENST00000549301.1	+	0	697				SNHG14_ENST00000441592.2_RNA																							ttcagcaggtccctccgtttg	0.488000													13	21					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833751	7833751	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:7833751A>T	ENST00000327325.5	+	7	1195	c.1077A>T	c.(1075-1077)gaA>gaT	p.E359D	CLEC4M_ENST00000596707.1_Missense_Mutation_p.E292D|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E308D|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E347D|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E223D|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E337D|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E292D	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	359	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACAGTGGAGAACCCAACAATA	0.507000													33	110					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526431	234526431	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234526431G>A	ENST00000373450.4	+	1	141	c.78G>A	c.(76-78)ggG>ggA	p.G26G		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGAGGCAGGGAAGCTGCTGG	0.582000													17	115					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76435269	76435269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76435269C>T	ENST00000389840.5	-	73	11790	c.11666G>A	c.(11665-11667)gGa>gAa	p.G3889E	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G3898E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGAGTTTTCCATTGTCTAT	0.458000													10	25					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138640956	138640956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:138640956C>T	ENST00000251691.4	+	28	4757	c.4591C>T	c.(4591-4593)Cac>Tac	p.H1531Y		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1531					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAATTTCAAGCACGCTATTGG	0.498000													10	69					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137045491	137045491	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:137045491G>A	ENST00000508657.1	-	3	807	c.93C>T	c.(91-93)gcC>gcT	p.A31A	KLHL3_ENST00000309755.4_Silent_p.A63A|KLHL3_ENST00000394937.3_Silent_p.A63A	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	63						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCACACGGTGGGCTTCTATCT	0.547000													16	122					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59067406	59067406	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:59067406C>T	ENST00000589222.1	+	15	1364	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	BCAS3_ENST00000588462.1_Silent_p.F432F|BCAS3_ENST00000585744.1_Silent_p.F203F|BCAS3_ENST00000408905.3_Silent_p.F432F|BCAS3_ENST00000390652.5_Silent_p.F432F|BCAS3_ENST00000407086.3_Silent_p.F432F|BCAS3_ENST00000588874.1_Silent_p.F203F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	432						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCACGTTTTCCCCATCAACC	0.493000													20	73					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133728428	133728428	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:133728428G>A	ENST00000248211.6	+	4	416	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	ZNF10_ENST00000426665.2_Missense_Mutation_p.R65Q|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.R65Q|ZNF268_ENST00000416488.1_Missense_Mutation_p.R65Q|ZNF10_ENST00000402932.2_Missense_Mutation_p.R65Q	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATCCTCCGGTTGGAGAAG	0.517000													5	62					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071431	150071431	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:150071431T>C	ENST00000199814.4	-	11	1266	c.1145A>G	c.(1144-1146)cAc>cGc	p.H382R	RBM22_ENST00000540000.1_Missense_Mutation_p.H333R|RBM22_ENST00000447771.2_Missense_Mutation_p.H333R	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	382	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAACATGTGTGGCCCAAA	0.502000													7	65					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56403215	56403215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:56403215G>A	ENST00000290649.5	-	11	1615	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	469	CUE.				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGAACCTGGGGAAACATCTCT	0.443000													5	47					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293212	130293212	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:130293212C>T	ENST00000358511.6	+	7	3421	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	COL6A6_ENST00000453409.2_Silent_p.I1130I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1130	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1130I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGAGGTATCGACATCTACT	0.552000													14	63					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769160	247769160	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:247769160G>A	ENST00000320002.2	+	1	305	c.273G>A	c.(271-273)acG>acA	p.T91T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAAAGAAGACGATCACTTACG	0.463000													86	282					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908365	53908365	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:53908365G>A	ENST00000396328.1	-	15	2277	c.2038C>T	c.(2038-2040)Cat>Tat	p.H680Y	WDR72_ENST00000557913.1_Missense_Mutation_p.H677Y|WDR72_ENST00000360509.5_Missense_Mutation_p.H680Y|WDR72_ENST00000559418.1_Missense_Mutation_p.H690Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	680										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAAGAATATGAAAGCCAACG	0.388000													7	55					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954911	30954911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:30954911C>T	ENST00000376296.3	+	2	1200	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	320	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGACTCCAGCACAACC	0.607000													22	373					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40850806	40850806	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40850806C>T	ENST00000264638.4	+	24	4250	c.4033C>T	c.(4033-4035)Cct>Tct	p.P1345S	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1345					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGTCCCCACCCCTACAGCAGC	0.652000													5	77					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78350124	78350124	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78350124C>T	ENST00000582970.1	+	52	13352	c.13209C>T	c.(13207-13209)ttC>ttT	p.F4403F	RNF213_ENST00000336301.6_Silent_p.F2476F|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.F4452F|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAGCAAATTCATTGGCGAAT	0.428000													12	163					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95892047	95892047	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:95892047C>G	ENST00000260766.3	+	3	1957	c.1323C>G	c.(1321-1323)tgC>tgG	p.C441W	PLCE1_ENST00000371385.3_Missense_Mutation_p.C133W|PLCE1_ENST00000371380.2_Missense_Mutation_p.C441W|PLCE1_ENST00000371375.1_Missense_Mutation_p.C133W	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	441					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGGTCCATGCTTAAAGCAAT	0.488000													24	121					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740180	37740180	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:37740180C>T	ENST00000539465.1	+	15	2248	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMPD1_ENST00000541302.1_Missense_Mutation_p.S421L|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S374L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S552L|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	552						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCTGCAGATCACTCATAAAG	0.627000													12	53					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150217107G>A	ENST00000313543.4	+	2	202	c.45G>A	c.(43-45)ggG>ggA	p.G15G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000													13	73					0	0	1	0	0
HINT3	135114	broad.mit.edu	37	6	126296103	126296103	+	Missense_Mutation	SNP	C	C	T	rs143717330		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:126296103C>T	ENST00000229633.5	+	4	697	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	167						mitochondrion|nucleolus	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		AGAGTCAATTCCTATTGGTTT	0.373000													13	42					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162981	141162981	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:141162981C>T	ENST00000514251.1	+	4	2030	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S585F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S584F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	584					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCGAAATTCTTCCTATGAA	0.418000													17	82					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158656289	158656289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158656289C>T	ENST00000368148.3	-	1	199	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E7K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	7					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTACGGTTTCCTTTGGAAAT	0.333000													12	71					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217394	150217394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150217394C>T	ENST00000313543.4	+	2	489	c.332C>T	c.(331-333)aCc>aTc	p.T111I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	111							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCAGAAAACCGTTGCATTG	0.537000													22	60					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247398	164247398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:164247398C>T	ENST00000296533.2	-	2	840	c.309G>A	c.(307-309)atG>atA	p.M103I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	103					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCCAGTGGTCCATTAATGTGT	0.423000													15	41					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107141298	107141298	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:107141298C>T	ENST00000392842.1	+	16	2131	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P582S|RFX4_ENST00000229387.5_Missense_Mutation_p.P479S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	573					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCAACAGCTGCCCTGTATGAG	0.512000													22	98					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924003	55924003	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:55924003C>T	ENST00000244728.5	-	29	3043	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G	COL21A1_ENST00000370808.2_Silent_p.G248G|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Silent_p.G879G|COL21A1_ENST00000535941.1_Silent_p.G882G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	882	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GATACCCAAACCCTTGGCTCC	0.443000													10	68					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218222	244218222	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:244218222C>T	ENST00000358704.4	+	2	1295	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		TCATGTGCCCCCTGTGCAACA	0.652000													15	73					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467460	10467460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10467460C>T	ENST00000382483.3	-	4	4371	c.4148G>A	c.(4147-4149)gGa>gAa	p.G1383E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1383					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTGCAGTCCTCCTTCTGGCCC	0.527000													66	318					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086473	144086473	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:144086473G>A	ENST00000427704.2	+	6	867	c.737G>A	c.(736-738)cGt>cAt	p.R246H	PHACTR2_ENST00000440869.2_Missense_Mutation_p.R257H|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R234H|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R166H|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R177H	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	246							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACCTCATCTCGTCCCAAAGCT	0.468000													12	116					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27192514	27192514	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27192514A>T	ENST00000380036.4	+	11	1959	c.1517A>T	c.(1516-1518)tAt>tTt	p.Y506F	TEK_ENST00000519097.1_Missense_Mutation_p.Y359F|TEK_ENST00000406359.4_Missense_Mutation_p.Y463F	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	506	Fibronectin type-III 1.				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)		ACACTCAACTATTTGGAACCT	0.468000													25	89					0	0	1	0	0
C1orf131	128061	broad.mit.edu	37	1	231362769	231362769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:231362769C>A	ENST00000318906.2	-	4	584	c.556G>T	c.(556-558)Gga>Tga	p.G186*	C1orf131_ENST00000366651.3_Nonsense_Mutation_p.G185*|C1orf131_ENST00000366649.2_Nonsense_Mutation_p.G186*			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	186										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CTCTCCTTTCCTTTTCCATAA	0.473000													19	80					9.04412e-07	9.15441e-07	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168104735	168104735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:168104735C>T	ENST00000409195.1	+	9	6922	c.6833C>T	c.(6832-6834)cCt>cTt	p.P2278L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2278L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2056L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2103					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTTTAACCCTGAGAATAAT	0.408000													9	66					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424369	125424369	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:125424369C>T	ENST00000373686.1	+	1	525	c.525C>T	c.(523-525)gcC>gcT	p.A175A				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTATGTGGCCATATGTAATC	0.473000													75	214					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798384	148798384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:148798384C>T	ENST00000355220.5	+	5	1340	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S384F	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	413	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATCCCACTTCTTACCCATCC	0.542000													40	62					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123526147	123526147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:123526147C>T	ENST00000422452.2	-	28	5506	c.5443G>A	c.(5443-5445)Gga>Aga	p.G1815R	TENM1_ENST00000371130.3_Missense_Mutation_p.G1808R|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGATCTTTCCTGTGCGGGTT	0.413000													23	52					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285296	74285296	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:74285296C>T	ENST00000295897.4	+	13	1814	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ALB_ENST00000401494.3_Silent_p.F460F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Silent_p.F425F|ALB_ENST00000509063.1_Silent_p.F575F|ALB_ENST00000415165.2_Silent_p.F383F	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	575	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGATGATTTCGCAGCTTTTG	0.413000													17	67					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100625025	100625025	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:100625025C>T	ENST00000308731.7	-	5	515	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	BTK_ENST00000372880.1_Missense_Mutation_p.E118K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	118	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTAGTTCTTCAGTTGGGGAG	0.418000									Agammaglobulinemia, X-linked				33	43					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528700	77528700	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:77528700C>T	ENST00000477717.1	+	5	1055	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	274					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TTATTATGAACCTTTTGGACC	0.398000													12	101					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174694	150174694	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150174694G>A	ENST00000307271.3	+	5	2398	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	608						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAACAGGCCAGGCCCAGGAAA	0.463000													20	135					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92941724	92941724	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:92941724G>A	ENST00000370332.1	-	7	1449	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	GFI1_ENST00000294702.5_Silent_p.F377F|GFI1_ENST00000427103.1_Silent_p.F377F	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	377					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGCTCTGGCTGAATGCCTTGC	0.582000													4	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410188	179410188	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179410188C>T	ENST00000589042.1	-	344	95873	c.95649G>A	c.(95647-95649)gtG>gtA	p.V31883V	TTN_ENST00000342175.6_Silent_p.V23010V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.V22818V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V22943V|TTN_ENST00000591111.1_Silent_p.V30242V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V29315V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30242	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTGCGGTCACCCGGAACT	0.498000													15	137					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966333	2966333	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:2966333G>A	ENST00000575751.1	-	1	568	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GTGGGTGTTGGAACATGCCAG	0.527000													6	61					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52456878	52456878	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52456878T>C	ENST00000327906.3	+	10	1560	c.900T>C	c.(898-900)tgT>tgC	p.C300C	PHF7_ENST00000347025.2_Silent_p.C261C|PHF7_ENST00000478707.1_Silent_p.C300C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	300						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGAGGAGTGTTCACCTGCTG	0.577000													21	153					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210316	10210316	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:10210316C>T	ENST00000418404.3	-	35	5398	c.5235G>A	c.(5233-5235)gtG>gtA	p.V1745V	MYH13_ENST00000570743.1_Silent_p.V1745V|MYH13_ENST00000252172.4_Silent_p.V1745V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1745					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V1745V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAGTTCTCCACCTCTGCCT	0.493000													8	46					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24031768	24031768	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:24031768C>T	ENST00000308724.5	-	14	2200	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.G482E	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	482					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCATACTCCCCAATGCACCA	0.597000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23962796	23962796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:23962796G>A	ENST00000317749.5	-	5	688	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	131	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ACACGTGACGGTAAAATCTGC	0.398000													9	224					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501591	134501591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:134501591G>A	ENST00000372195.1	-	10	1663	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P475S|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P457S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	457					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTCTTCTCGGGGAGAGCAGGT	0.647000													5	24					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804310	75804310	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:75804310C>T	ENST00000550916.1	+	2	378	c.331C>T	c.(331-333)Cct>Tct	p.P111S	GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.P111S|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.P111S|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.P4S|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.P46S|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.P111S	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	111						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AATGGTCCATCCTAAATTTTA	0.363000													8	70					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647320	43647320	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:43647320C>T	ENST00000292246.3	-	2	195	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ANO10_ENST00000451430.2_Missense_Mutation_p.D9N|ANO10_ENST00000350459.4_Missense_Mutation_p.D9N|ANO10_ENST00000414522.2_Missense_Mutation_p.D9N|ANO10_ENST00000396091.3_Missense_Mutation_p.D9N	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	9					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCAGAAGTATCCAAAGCTGAT	0.348000													10	41					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517365	140517365	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140517365G>A	ENST00000231134.5	+	1	2566	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATAGGGAAAACTGCTG	0.468000													14	119					0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170892764	170892764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:170892764C>T	ENST00000541970.1	-	2	433	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PDCD2_ENST00000443345.2_Missense_Mutation_p.E86K|PDCD2_ENST00000542896.1_Missense_Mutation_p.E119K|PDCD2_ENST00000392090.2_Missense_Mutation_p.E86K|PDCD2_ENST00000537445.1_Missense_Mutation_p.E86K|PDCD2_ENST00000453163.2_Missense_Mutation_p.E119K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	119					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCTCCTGTTTCTGGGGGAGGA	0.433000													5	49					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667389	56667389	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:56667389C>G	ENST00000431842.2	-	11	3043	c.2119G>C	c.(2119-2121)Gat>Cat	p.D707H	FAM208A_ENST00000493960.2_Missense_Mutation_p.D1144H|FAM208A_ENST00000355628.5_Missense_Mutation_p.D1083H	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1144										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAGTTGGTATCTTTCAAAGGA	0.423000													52	213					0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523699	29523699	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29523699C>T	ENST00000377050.4	-	2	679	c.456G>A	c.(454-456)aaG>aaA	p.K152K	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	152	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTAAGTTGCCCTTTCTGATGC	0.463000													19	106					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282243	28282243	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:28282243A>T	ENST00000373894.3	+	6	930	c.739A>T	c.(739-741)Aac>Tac	p.N247Y	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.N199Y|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.N247Y	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	247					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAAGACGCAAAACAAGGCATG	0.567000													7	118					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7852463	7852463	+	Silent	SNP	C	C	T	rs142142775		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7852463C>T	ENST00000380262.3	+	18	3565	c.2640C>T	c.(2638-2640)atC>atT	p.I880I	CNTROB_ENST00000563694.1_Silent_p.I858I|CNTROB_ENST00000565740.1_Silent_p.I859I|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	858	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGGGTGAGATCCCCCGGAAAG	0.582000													12	107					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233407618	233407618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:233407618C>T	ENST00000389494.3	+	7	652	c.631C>T	c.(631-633)Cga>Tga	p.R211*	CHRNG_ENST00000389492.3_Nonsense_Mutation_p.R159*	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	211					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CATCCAGCACCGACCAGCCAA	0.642000													4	33					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261177	151261177	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:151261177A>G	ENST00000368879.2	+	3	2387	c.2289A>G	c.(2287-2289)ggA>ggG	p.G763G		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGTAGGATACAGGTGCC	0.567000													18	118					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114855	53114855	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:53114855C>T	ENST00000375442.4	+	6	1413	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	427					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TGGAAGACGCCCCTGACTATT	0.483000													20	51					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776784	77776784	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77776784G>A	ENST00000521891.2	+	11	11282	c.10834G>A	c.(10834-10836)Gat>Aat	p.D3612N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3567N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3563N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3586N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3563						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCCGAATGGATATGTTCAG	0.368000										HNSCC(33;0.089)			3	20					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920848	105920848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105920848C>T	ENST00000357060.3	-	27	3602	c.3487G>A	c.(3487-3489)Gat>Aat	p.D1163N	WDR96_ENST00000428666.1_Missense_Mutation_p.D1164N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1163										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCTCATAATCTTTGAATTGT	0.333000													3	19					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	90					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812284	108812284	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:108812284C>T	ENST00000232603.5	-	8	770	c.689_splice	c.e8+1	p.D230_splice	MORC1_ENST00000483760.1_Splice_Site_p.D230_splice	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	230					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACACATACTCCTCCAGAGCT	0.438000													12	61					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96094420	96094420	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:96094420G>A	ENST00000371361.3	-	20	2345	c.2245C>T	c.(2245-2247)Cct>Tct	p.P749S	NOC3L_ENST00000371350.1_Missense_Mutation_p.P749S|NOC3L_ENST00000543788.1_Missense_Mutation_p.P487S	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	749						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GATTCAACAGGAGGATTGAAT	0.333000													26	101					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431022	31431022	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:31431022C>T	ENST00000414046.2	+	0	185					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						TCCTGCTGTTCTCGGGAGCCG	0.662000													3	15					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324919	150324919	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150324919C>T	ENST00000328902.5	-	3	983	c.767G>A	c.(766-768)gGc>gAc	p.G256D	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	256							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGCCTTGGCCCTGGCTTAC	0.512000													18	130					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169680653	169680653	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:169680653C>T	ENST00000236147.4	-	1	186	c.26G>A	c.(25-27)gGa>gAa	p.G9E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	0					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTTGCTTGGTCCTTCTCTAGT	0.507000													7	16					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945154	144945154	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144945154G>A	ENST00000525985.1	-	2	2339	c.2268C>T	c.(2266-2268)atC>atT	p.I756I				P58107	EPIPL_HUMAN	epiplakin 1	756						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCCAACAGGATCAAGTTCA	0.637000													20	130					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879707	27879707	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:27879707G>A	ENST00000303324.2	-	1	467	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATTGAGTAATGGAGAGGCCGA	0.483000													15	94					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41019029	41019029	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:41019029G>A	ENST00000399564.4	-	25	2983	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MROH2B_ENST00000506092.2_Silent_p.L400L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCACTTTTCAGATTTTCCAGA	0.473000													3	42					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040682	67040682	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67040682C>T	ENST00000315962.4	+	2	685	c.312C>T	c.(310-312)atC>atT	p.I104I	TRIM55_ENST00000276573.7_Silent_p.I104I|TRIM55_ENST00000353317.5_Silent_p.I104I|TRIM55_ENST00000350034.4_Silent_p.I104I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	104						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAAAATATCATTGACATCT	0.458000													29	112					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641246	156641246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156641246C>T	ENST00000368223.3	-	4	2866	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	912	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGACTTTCCTTGTCTACC	0.507000													16	85					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85790432	85790432	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:85790432T>A	ENST00000284031.8	-	5	826	c.732A>T	c.(730-732)gaA>gaT	p.E244D	DDAH1_ENST00000535924.2_Missense_Mutation_p.E141D|DDAH1_ENST00000542148.1_Missense_Mutation_p.E144D|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.E151D|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.E244D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	244					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CCTTTGCACTTTCTGGATACT	0.468000													14	121					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484375	8484375	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:8484375G>A	ENST00000381196.4	-	27	3700	c.3157C>T	c.(3157-3159)Ctt>Ttt	p.L1053F	PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1053	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1053I(2)|p.L1053V(1)		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)		TCATCATAAAGAATCTAAAGA	0.338000										TSP Lung(15;0.13)			3	16					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229628	39229628	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39229628C>T	ENST00000340369.3	-	2	1537	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D437N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	437							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTTCACATCCCCCTTTAGC	0.557000													51	290					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47569255	47569255	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:47569255C>T	ENST00000337137.4	+	13	1706	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H455Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H436Y|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H467Y	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	514						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCCCCCAATCACTACAAGAA	0.652000													39	124					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804990	50804990	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:50804990C>T	ENST00000440075.2	+	40	5589	c.5542C>T	c.(5542-5544)Ctg>Ttg	p.L1848L	MYH14_ENST00000598205.1_Silent_p.L1815L|MYH14_ENST00000376970.2_Silent_p.L1840L|MYH14_ENST00000262269.8_Silent_p.L1848L|MYH14_ENST00000601313.1_Silent_p.L1848L|MYH14_ENST00000596571.1_Silent_p.L1807L|MYH14_ENST00000425460.1_Silent_p.L1815L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1807					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCAGCAGCTGGAACGGCA	0.612000													10	51					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937353	152937353	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:152937353G>A	ENST00000393831.2	-	5	830	c.396C>T	c.(394-396)atC>atT	p.I132I	PNCK_ENST00000370150.1_Silent_p.I132I|PNCK_ENST00000370145.4_Silent_p.I149I|PNCK_ENST00000370142.1_Silent_p.I132I|PNCK_ENST00000340888.3_Silent_p.I132I|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.I215I	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	132	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGTGCACGATCCCCAGGC	0.667000													6	11					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962580	167962580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:167962580C>T	ENST00000367840.3	+	7	899	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	DCAF6_ENST00000367843.3_Missense_Mutation_p.L269F|DCAF6_ENST00000312263.6_Missense_Mutation_p.L269F|DCAF6_ENST00000432587.2_Missense_Mutation_p.L238F	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	269					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCAAGAGATTCTCGTTAGTTA	0.408000													13	57					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423515	56423515	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:56423515G>A	ENST00000588751.1	-	5	1692	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	NLRP13_ENST00000342929.3_Silent_p.F556F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	556	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AATGGGGAGGGAATTCTCTAG	0.458000													21	106					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565110	56565110	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56565110G>A	ENST00000394023.3	-	22	2397	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	SMARCC2_ENST00000347471.4_Silent_p.F764F|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.F733F|SMARCC2_ENST00000550164.1_Silent_p.F764F	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	733	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTCCAGACCGAAGGCAGGGT	0.542000													17	50					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78156504	78156504	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78156504C>T	ENST00000573882.1	+	5	800	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CARD14_ENST00000344227.2_Silent_p.F88F|CARD14_ENST00000570421.1_Silent_p.F88F			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	88	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATCGCCTTCCTGGAGAGCC	0.582000													6	42					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086223	175086223	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:175086223G>A	ENST00000239462.4	+	10	2381	c.2268G>A	c.(2266-2268)ggG>ggA	p.G756G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	756	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCCGGTGGGGAAGGAGCAGA	0.652000													25	128					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153173	105153173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:105153173G>A	ENST00000428173.2	+	13	1846	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	NRK_ENST00000243300.9_Missense_Mutation_p.D514N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	514	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAAGATTTGGACCAGGTACC	0.547000										HNSCC(51;0.14)			14	24					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315377	50315377	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:50315377C>T	ENST00000404488.3	+	5	695	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.S187L|CRELD2_ENST00000328268.4_Missense_Mutation_p.S187L|CRELD2_ENST00000403427.3_Missense_Mutation_p.S187L	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	187						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TACTTCAGCTCGCTCCGGAAC	0.672000													25	124					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47850197	47850197	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:47850197C>T	ENST00000371764.4	+	11	1326	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	439						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)			GGCAGGAGTTCATCCGGATCC	0.577000													26	127					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943054	12943054	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12943054C>T	ENST00000235349.5	-	2	232	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	54										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCAGCTTCAGGGCCTCAC	0.612000													21	48					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936635	4936635	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4936635G>A	ENST00000322013.3	-	1	287	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGATGCCCAGGACTGTAGGG	0.493000													10	37					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543941	9543941	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9543941C>T	ENST00000287585.6	-	4	983	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	233						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GACTCCCCATCCAGAGACATC	0.552000													8	61					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87785248	87785248	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:87785248C>T	ENST00000398204.4	+	22	2157	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S	ADAM22_ENST00000315984.7_Missense_Mutation_p.P612S|ADAM22_ENST00000398201.4_Missense_Mutation_p.P612S|ADAM22_ENST00000265727.7_Missense_Mutation_p.P612S|ADAM22_ENST00000398209.3_Missense_Mutation_p.P612S	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	612	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCAATATCCCAAGGCTTGG	0.363000													25	153					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410420	100410420	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100410420G>A	ENST00000358173.3	-	12	2535	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	EPHB4_ENST00000360620.3_Silent_p.V689V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	689	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGAATCATGACGGGCATGC	0.622000													19	75					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021228	161021228	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161021228C>T	ENST00000368013.3	-	10	1616	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	ARHGAP30_ENST00000368016.3_Silent_p.P432P|ARHGAP30_ENST00000368015.1_Silent_p.P255P	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	432					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGATGATGTTCGGGGGCACAC	0.622000													23	108					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047117	132047117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:132047117C>T	ENST00000336375.5	+	2	217	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.R43W|ACPP_ENST00000475741.1_Missense_Mutation_p.R43W	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	43						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCAGGTGTTTCGGCATGGAGA	0.443000													14	69					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19632568	19632568	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:19632568G>A	ENST00000299295.2	+	4	990	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CHODL_ENST00000338326.3_Missense_Mutation_p.G159E|CHODL_ENST00000400131.1_Missense_Mutation_p.G159E|CHODL_ENST00000400128.1_Missense_Mutation_p.G159E|CHODL_ENST00000400135.1_Missense_Mutation_p.G159E|CHODL_ENST00000543733.1_Missense_Mutation_p.G181E|CHODL_ENST00000400127.1_Missense_Mutation_p.G159E	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	200					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AATCAACCAGGAGACACCCAT	0.358000													34	108					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538235	4538235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:4538235C>T	ENST00000306390.6	-	2	1221	c.761G>A	c.(760-762)gGt>gAt	p.G254D	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	254						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGAAGGCACCGGCTGCCAC	0.622000													50	207					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766146	43766146	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43766146C>T	ENST00000244293.7	-	3	641	c.575G>A	c.(574-576)aGg>aAg	p.R192K	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R192K|PSG9_ENST00000270077.3_Missense_Mutation_p.R192K|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	192	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGCTGCAACCTGTGAGTCAC	0.507000													41	299					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260239	78260239	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:78260239C>T	ENST00000264914.4	-	3	1226	c.690_splice	c.e3+1	p.K230_splice	ARSB_ENST00000565165.1_Splice_Site_p.K230_splice|ARSB_ENST00000396151.3_Splice_Site_p.K230_splice	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	230					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAAAACTTACCTTCTCTGGTG	0.348000													7	41					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332424	22332424	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:22332424G>A	ENST00000558896.1	+	0	231																											AAAAAAACAAGATTCTAACGT	0.328000													5	77					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360647	182360647	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:182360647A>C	ENST00000397033.2	+	14	1953	c.1523A>C	c.(1522-1524)gAa>gCa	p.E508A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	508					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGGGCAAGGAAGTTCCAGGT	0.438000													14	127					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:55587212C>G	ENST00000373965.2	-	33	4723	c.4329G>C	c.(4327-4329)ccG>ccC	p.P1443P	PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)			3	65					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726821	95726821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:95726821G>A	ENST00000324972.6	+	17	2047	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.W601*|DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.W601*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.W598*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.W581*|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	618					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATGATGAATGGACCCGATTTG	0.463000													16	98					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228338	6228338	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:6228338C>T	ENST00000262450.3	-	2	179		c.e2-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTTCTTCTTCTGGAAAAATC	0.532000													31	98					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017521	109017521	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:109017521C>T	ENST00000388962.3	-	3	692	c.533G>A	c.(532-534)gGc>gAc	p.G178D	SELPLG_ENST00000550948.1_Missense_Mutation_p.G188D|SELPLG_ENST00000228463.6_Missense_Mutation_p.G204D	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	188	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCCTCCAGGCCTGTGGGTTG	0.637000													35	131					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413475	111413475	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111413475C>T	ENST00000535254.1	-	15	1724	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	BUB1_ENST00000409311.1_Missense_Mutation_p.E573K|BUB1_ENST00000302759.6_Missense_Mutation_p.E573K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	573					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAAAACTCTTCAGCATGAGGC	0.428000													21	166					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422498	26422498	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:26422498C>T	ENST00000335473.7	+	43	6808	c.6558C>T	c.(6556-6558)acC>acT	p.T2186T	MYO18B_ENST00000536101.1_Silent_p.T2186T|MYO18B_ENST00000407587.2_Silent_p.T2187T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2186						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACAGCAAGACCTCAGGAGACA	0.562000													24	84					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228136	174228136	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:174228136T>G	ENST00000306721.3	+	4	670	c.567T>G	c.(565-567)agT>agG	p.S189R	CDCA7_ENST00000392567.2_Missense_Mutation_p.S110R|CDCA7_ENST00000410019.3_Missense_Mutation_p.S68R|CDCA7_ENST00000410101.3_Missense_Mutation_p.S145R|CDCA7_ENST00000347703.3_Missense_Mutation_p.S110R	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	110					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAGATGAAAGTGGAATGAATT	0.418000													9	47					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42857946	42857946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42857946C>T	ENST00000334370.4	+	21	4215	c.3580C>T	c.(3580-3582)Cgg>Tgg	p.R1194W	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1261W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1261	Laminin EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TTCCTGCTTTCGGGAGTGTGG	0.682000													6	28					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16681582	16681582	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:16681582G>A	ENST00000513610.1	-	32	4674	c.4220C>T	c.(4219-4221)cCa>cTa	p.P1407L	MYO10_ENST00000274203.9_Missense_Mutation_p.P764L|MYO10_ENST00000505695.1_Missense_Mutation_p.P746L|MYO10_ENST00000427430.2_Missense_Mutation_p.P764L|MYO10_ENST00000515803.1_Missense_Mutation_p.P746L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1407	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGACATCTTTGGACTGTTCTT	0.423000													17	145					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263863	105263863	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:105263863C>T	ENST00000507740.1	+	22	3543	c.3307C>T	c.(3307-3309)Cac>Tac	p.H1103Y	RIMS2_ENST00000339750.2_Missense_Mutation_p.H225Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.H1307Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.H1289Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.H1128Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1351					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCGCATGGATCACAAATCTTT	0.398000										HNSCC(12;0.0054)			24	152					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153740201	153740201	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:153740201C>T	ENST00000456435.1	+	21	2710	c.1524C>T	c.(1522-1524)acC>acT	p.T508T	INTS3_ENST00000512605.1_Silent_p.T508T|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.T714T|INTS3_ENST00000435409.2_Silent_p.T714T			Q68E01	INT3_HUMAN	integrator complex subunit 3	715					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCAGGCTACCCAGCTGGGCG	0.627000													36	121					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49321500	49321500	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:49321500G>A	ENST00000351842.4	-	18	2327	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	USP4_ENST00000265560.4_Silent_p.I820I	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	820					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GGACCACCAGGATCTTGGGCA	0.478000													21	100					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288019	202288019	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:202288019C>T	ENST00000367278.3	+	18	2677	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	LGR6_ENST00000255432.7_Missense_Mutation_p.S811F|LGR6_ENST00000439764.2_Missense_Mutation_p.S724F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	863						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGAAGAGCTCCTGTGATTCT	0.637000													14	70					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287271	36287271	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:36287271G>A	ENST00000437635.2	-	11	1962	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	595										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCTGGCGCGGTTCCTGTCCA	0.537000													29	106					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28862197	28862197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:28862197C>T	ENST00000399613.1	+	17	1924	c.1861C>T	c.(1861-1863)Cag>Tag	p.Q621*	PAN3_ENST00000380958.3_Nonsense_Mutation_p.Q821*|PAN3_ENST00000282391.5_Nonsense_Mutation_p.Q509*			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	821	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTTTTTCATCAGGTGACAGA	0.393000													4	54					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683907	3683907	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:3683907A>T	ENST00000344754.4	-	5	1164	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F389I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	389	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTCACAGAAGTAGAAGCCA	0.602000													17	63					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050910	110050910	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:110050910G>A	ENST00000369864.4	-	2	974	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	AMIGO1_ENST00000369862.1_Missense_Mutation_p.P209S			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	209					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATCCAGGCCGGCAGCTTCTGC	0.527000													9	110					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739827	152739827	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:152739827C>T	ENST00000360283.6	-	2	360	c.103G>A	c.(103-105)Gac>Aac	p.D35N	CACNB4_ENST00000427385.1_Missense_Mutation_p.D51N|CACNB4_ENST00000397327.2_Missense_Mutation_p.D22N|CACNB4_ENST00000201943.5_Missense_Mutation_p.D69N|CACNB4_ENST00000534999.1_Missense_Mutation_p.D35N|CACNB4_ENST00000539935.1_Missense_Mutation_p.D69N|CACNB4_ENST00000475848.1_5'UTR			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	69					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTTCCCGGTCCTCTTCCAAA	0.483000													15	149					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104713	87104713	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:87104713G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							GCAAAATCTTGATTCTGTAAG	0.383000													9	61					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22846948	22846948	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:22846948C>T	ENST00000283645.4	+	8	953	c.823C>T	c.(823-825)Cta>Tta	p.L275L	TUBGCP5_ENST00000453949.2_Silent_p.L275L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	275					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCGGGAAACCCTATGGTAAGA	0.358000													11	66					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212676	105212676	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:105212676G>A	ENST00000332972.5	+	12	1563	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	ADSSL1_ENST00000556623.1_Silent_p.Q31Q|ADSSL1_ENST00000330877.2_Silent_p.Q425Q|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Silent_p.Q31Q	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	425					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	TGCCCCCACAGGCCCAGAACT	0.622000													5	41					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234345049	234345049	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234345049C>G	ENST00000264057.2	+	7	793	c.781C>G	c.(781-783)Cgc>Ggc	p.R261G	DGKD_ENST00000409813.3_Missense_Mutation_p.R217G	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	261					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTGCTGCGCCTGCAGGA	0.637000													8	48					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161580	151161580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151161580C>T	ENST00000282466.3	-	5	5154	c.5155G>A	c.(5155-5157)Gga>Aga	p.G1719R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1719	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGTACTGTCCGCGGTCCTGA	0.507000											OREG0006779	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=IGSF10|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	9	84					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089382	43089382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:43089382C>T	ENST00000359467.3	-	5	1130	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	339						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGACTTCTCCCAGAAAGCTTT	0.413000													27	186					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180031404	180031404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:180031404G>A	ENST00000367607.3	+	26	5730	c.5312G>A	c.(5311-5313)aGa>aAa	p.R1771K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGGAAGGAAAGACAGCTGATT	0.423000													7	18					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636491	93636491	+	Silent	SNP	C	C	T	rs146732805		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:93636491C>T	ENST00000375754.4	+	8	1069	c.921C>T	c.(919-921)tcC>tcT	p.S307S	SYK_ENST00000375747.1_Silent_p.S284S|SYK_ENST00000375751.4_Silent_p.S284S|SYK_ENST00000375746.1_Silent_p.S307S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	307	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTAGTCCTCCCCTGCCCAAG	0.413000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								9	52					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406446	43406446	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:43406446C>T	ENST00000244533.3	+	6	2315	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	ABCC10_ENST00000372530.4_Silent_p.I680I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	680	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGCCACCATCCGAGACAACA	0.597000													23	96					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49364935	49364935	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:49364935G>A	ENST00000263265.6	-	4	762	c.207C>T	c.(205-207)ctC>ctT	p.L69L	PLEKHA4_ENST00000355496.5_Silent_p.L69L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	69	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCCAGAGACGGAGCCCCGAGC	0.617000													5	40					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562770	11562770	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:11562770T>C	ENST00000294484.6	+	3	1270	c.1132T>C	c.(1132-1134)Tac>Cac	p.Y378H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y378H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	378					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGAGTTCTACTGGTATGT	0.592000													3	42					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220180604	220180604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:220180604G>A	ENST00000366923.3	-	14	1951	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	561	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTCACCCTCCGAAAAAGTCTC	0.368000													4	50					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186670	157186670	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:157186670G>A	ENST00000339562.4	-	3	391	c.29C>T	c.(28-30)tCc>tTc	p.S10F	NR4A2_ENST00000409108.2_Missense_Mutation_p.S10F|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.S10F|NR4A2_ENST00000539077.1_Missense_Mutation_p.S21F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	10					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGAGGCGAGGACCCATACTG	0.522000													8	30					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98938116	98938116	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:98938116C>G	ENST00000556029.1	+	5	1128	c.772C>G	c.(772-774)Cca>Gca	p.P258A	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	258	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGAAGAACTCCAAGGAAAAG	0.373000													12	98					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107589322	107589322	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:107589322G>A	ENST00000374736.3	-	16	2638	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	748					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCCCCCACAGGCTGCTGCCA	0.552000													23	83					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312836	52312836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:52312836G>A	ENST00000550683.1	+	8	1457	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	ACVRL1_ENST00000388922.4_Missense_Mutation_p.M438I|ACVRL1_ENST00000419526.2_Missense_Mutation_p.M264I	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	438	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TTGAGGACATGAAGAAGGTGG	0.572000													11	98					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705264	51705264	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:51705264C>T	ENST00000522124.1	+	19	2090	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	SNTG1_ENST00000517473.1_Missense_Mutation_p.H440Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.H477Y|SNTG1_ENST00000276467.5_Missense_Mutation_p.H440Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	477					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTGTTCTTCACTGCATTCA	0.368000													24	141					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52403858	52403858	+	Silent	SNP	C	C	T	rs61753444		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52403858C>T	ENST00000420323.2	+	38	6222	c.5961C>T	c.(5959-5961)ttC>ttT	p.F1987F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1987	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATGATGTTCGAGGTGCAAG	0.622000													11	67					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556771	27556771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:27556771G>A	ENST00000356183.4	-	2	310	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P99S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	99						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATATGAATGGGGTAGACATCC	0.418000													10	72					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:169664489C>T	ENST00000483289.2	-	0	2805				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CATACTTTTTCCTCTGCAAGG	0.522000													18	85					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639257	3639257	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:3639257G>A	ENST00000294008.3	-	12	5022	c.4382C>T	c.(4381-4383)gCc>gTc	p.A1461V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1461	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTGTCGGCGGCCTCGTTCAT	0.652000								Direct reversal of damage					38	174					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142521062	142521062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:142521062C>T	ENST00000273482.6	+	9	1922	c.1531C>T	c.(1531-1533)Ctt>Ttt	p.L511F	TRPC1_ENST00000476941.1_Missense_Mutation_p.L545F	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	545					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L511I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGGATGTTTCTTCTTGTTTT	0.338000													9	55					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906752	13906752	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:13906752G>A	ENST00000279593.3	-	3	718	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	170					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGACGATAGAAAAGATGTA	0.463000													14	112					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106707	168106707	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:168106707G>A	ENST00000409195.1	+	9	8894	c.8805G>A	c.(8803-8805)cgG>cgA	p.R2935R	XIRP2_ENST00000295237.9_Silent_p.R2935R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R2713R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2760					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCCCAGCGGGATGATGGAA	0.383000													11	91					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47814372	47814372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:47814372G>A	ENST00000254480.5	-	2	369	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	84					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AACTGAAGAAGCTGCACCACC	0.463000													12	74					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94044562	94044562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94044562C>T	ENST00000297268.6	+	30	2215	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	582					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTTTGGTCTCCCTGGTCCTGC	0.363000										HNSCC(75;0.22)			36	175					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777717	237777717	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:237777717T>C	ENST00000366574.2	+	37	5606	c.5289T>C	c.(5287-5289)ttT>ttC	p.F1763F	RYR2_ENST00000360064.6_Silent_p.F1761F|RYR2_ENST00000542537.1_Silent_p.F1747F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1763	4 X approximate repeats.				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)			GGATGCAGTTTTCCTCCCCCA	0.512000													8	71					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79685854	79685854	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:79685854G>A	ENST00000261205.4	+	6	1075	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SYT1_ENST00000552744.1_Missense_Mutation_p.E140K|SYT1_ENST00000457153.2_Missense_Mutation_p.E137K|SYT1_ENST00000393240.3_Missense_Mutation_p.E140K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	140	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCCAAAGAAGAGGAGAAACT	0.373000													5	35					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27425705	27425705	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27425705G>A	ENST00000310574.3	-	12	1724	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.S417S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	417					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCATCTGGGAGGAAATATAGG	0.468000													11	188					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551377	100551377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100551377G>A	ENST00000319509.7	+	1	128	c.128G>A	c.(127-129)cGa>cAa	p.R43Q						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAAGCCTACGAACTCTCACC	0.502000													22	110					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372637	114372637	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114372637G>A	ENST00000359785.5	-	17	2203	c.2068C>T	c.(2068-2070)Cgt>Tgt	p.R690C	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R690C|PTPN22_ENST00000538253.1_Missense_Mutation_p.R446C|PTPN22_ENST00000528414.1_Missense_Mutation_p.R635C|PTPN22_ENST00000525799.1_Missense_Mutation_p.R563C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	690					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGAAGAACGATCTTGATGT	0.358000													5	60					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814023	137814023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:137814023C>T	ENST00000409968.1	+	3	351	c.173C>T	c.(172-174)cCc>cTc	p.P58L	THSD7B_ENST00000413152.2_Missense_Mutation_p.P27L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P58L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACTGTGGTCCCGGAGGAGTC	0.493000													7	59					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111672892	111672892	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:111672892G>A	ENST00000435970.1	-	21	7869	c.7053C>T	c.(7051-7053)atC>atT	p.I2351I	REV3L_ENST00000358835.3_Silent_p.I2429I|REV3L_ENST00000368805.1_Silent_p.I2429I|REV3L_ENST00000368802.3_Silent_p.I2429I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2429					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACCCGAGAGATCATCCGAC	0.388000								DNA polymerases (catalytic subunits)					15	45					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079798	29079798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29079798G>A	ENST00000377169.1	+	1	131	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ACACTGATAGGAAACCTGTTC	0.413000													39	206					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400173	47400173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:47400173G>A	ENST00000457840.2	-	6	685	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.I283I|CYP4A11_ENST00000371904.4_Silent_p.I284I|CYP4A11_ENST00000310638.4_Silent_p.I283I			Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	0					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCTTCCTCTTGATCTTCTCCA	0.493000													12	133					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377642	230377642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:230377642G>A	ENST00000341772.4	-	6	1138	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	335	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAGGTACAGGAAAAAGTTGC	0.438000													3	22					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110861212	110861212	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110861212C>T	ENST00000375820.4	-	12	798	c.677G>A	c.(676-678)gGa>gAa	p.G226E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G226E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	226	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTTTGGTCCTTGAAAACT	0.413000													11	136					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9360725	9360725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:9360725G>A	ENST00000378501.2	+	10	784	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E257K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E257K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E257K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E257K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E257K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	257					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCGATTGAATGAAATTTTATT	0.308000													7	35					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942557	144942557	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144942557T>C	ENST00000525985.1	-	2	4936	c.4865A>G	c.(4864-4866)aAg>aGg	p.K1622R				P58107	EPIPL_HUMAN	epiplakin 1	1622						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGGTCAGCTTCCGGTTCTC	0.647000													31	68					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136773	80136773	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:80136773C>T	ENST00000466387.1	+	11	1630	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CTNNA2_ENST00000540488.1_Silent_p.S302S|CTNNA2_ENST00000496558.1_Silent_p.S302S|CTNNA2_ENST00000402739.4_Silent_p.S302S|CTNNA2_ENST00000361291.4_Silent_p.S336S|CTNNA2_ENST00000541047.1_Silent_p.S302S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	302					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCCGGCCGTCCCTGGAGGAGA	0.592000													8	83					0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226332	29226332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:29226332G>A	ENST00000581216.1	-	4	1559	c.938C>T	c.(937-939)cCt>cTt	p.P313L	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	313					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAACACCCGAGGATCCGCCTT	0.403000													9	72					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537628	73537628	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:73537628C>T	ENST00000224721.6	+	38	5057	c.5052C>T	c.(5050-5052)atC>atT	p.I1684I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1679	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGGCAACATCGTCAACACCT	0.572000													10	46					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066766	18066766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:18066766G>A	ENST00000506618.2	-	1	720	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATAGCCACACGATCATTCACA	0.453000													23	130					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49364934	49364934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:49364934G>A	ENST00000263265.6	-	4	763	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R70C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	70	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TTCCAGAGACGGAGCCCCGAG	0.617000													5	41					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123030766	123030766	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:123030766C>G	ENST00000333479.7	+	9	890	c.713C>G	c.(712-714)tCc>tGc	p.S238C	KNTC1_ENST00000450485.2_Missense_Mutation_p.S201C	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	238					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAGATTCTTCCAAGAAAGGA	0.323000													3	32					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113940	56113940	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:56113940G>A	ENST00000279783.2	+	1	520	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGATCATCATGGCAGAGAAAG	0.393000										HNSCC(65;0.19)			14	213					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109778669	109778669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:109778669C>T	ENST00000369923.4	+	8	1051	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	SARS_ENST00000234677.2_Missense_Mutation_p.T347I			P49591	SYSC_HUMAN	seryl-tRNA synthetase	347					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATGATTACCACCGCAGAGGAG	0.488000													16	90					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58004500	58004500	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58004500G>A	ENST00000424930.2	+	5	807	c.578G>A	c.(577-579)aGt>aAt	p.S193N	ZNF419_ENST00000426954.2_Missense_Mutation_p.S180N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S160N|ZNF419_ENST00000221735.7_Missense_Mutation_p.S192N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S146N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S180N|ZNF419_ENST00000442920.2_Missense_Mutation_p.S179N	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGCTCCAAAAGTAGGGAGGCC	0.478000													4	33					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195493607	195493607	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:195493607G>A	ENST00000463781.3	-	8	14004	c.13545C>T	c.(13543-13545)ttC>ttT	p.F4515F	MUC4_ENST00000349607.4_Silent_p.F228F|MUC4_ENST00000475231.1_Silent_p.F4463F|MUC4_ENST00000346145.4_Silent_p.F279F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1272					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.F4387F(1)|p.F279F(1)|p.F4515F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGTTTTCGAAATAGCCAT	0.547000													18	68					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147349	129147349	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:129147349G>T	ENST00000540052.1	+	3	645	c.601G>T	c.(601-603)Gcc>Tcc	p.A201S	BCORL1_ENST00000218147.7_Missense_Mutation_p.A201S|BCORL1_ENST00000303743.5_Missense_Mutation_p.A201S|BCORL1_ENST00000359304.2_Missense_Mutation_p.A201S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	201	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTCTGCCAGCCCCTATCTG	0.587000													55	78					2.23399e-28	2.28352e-28	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12164439	12164439	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:12164439C>T	ENST00000379388.2	+	9	8234	c.7902C>T	c.(7900-7902)gaC>gaT	p.D2634D	HIVEP1_ENST00000541134.1_Silent_p.D499D	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2634					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTAAAATGGACACAGAGAAGG	0.537000													12	54					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3078995	3078995	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:3078995G>A	ENST00000397461.1	+	17	2459	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	CNTN4_ENST00000358480.3_Missense_Mutation_p.R473Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.R364Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.R692Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.R364Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.R692Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	692	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGAGAAACGGAGAACAGAA	0.522000													52	234					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241328	3241328	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:3241328C>T	ENST00000217939.6	-	5	2552	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	800						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGTACTTCTGTGCCCTTA	0.468000													31	68					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392838	89392838	+	RNA	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:89392838A>C	ENST00000532352.1	+	0	661							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCGTGGAAATATCCTAAATCT	0.463000													8	71					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030283	6030283	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:6030283C>T	ENST00000546188.1	-	3	516	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ANO2_ENST00000327087.8_Missense_Mutation_p.E149K|ANO2_ENST00000356134.5_Missense_Mutation_p.E149K			Q9NQ90	ANO2_HUMAN	anoctamin 2	153						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCCTCTCCTCCTCCAGGGCA	0.617000													24	83					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60707011	60707011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:60707011C>T	ENST00000227880.3	-	6	1609	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	459					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GATCTGCCACCAGATGGACAG	0.587000													13	40					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679405	100679405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100679405G>A	ENST00000306151.4	+	3	4772	c.4708G>A	c.(4708-4710)Gaa>Aaa	p.E1570K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1570	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGCAC	0.483000													76	365					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5937086	5937086	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5937086C>T	ENST00000379999.5	+	2	194	c.90C>T	c.(88-90)ggC>ggT	p.G30G	FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000362091.4_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	0					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGCCCCTGGGCCATCTCCACA	0.552000													12	69					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:96180332G>A	ENST00000402399.1	-	1	201	c.72C>T	c.(70-72)ttC>ttT	p.F24F	RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Silent_p.F24F|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Silent_p.F24F|TCL1A_ENST00000555202.1_Silent_p.F24F	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	24					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL								24	103					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74644032	74644032	+	Silent	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:74644032T>A	ENST00000536019.1	+	7	1168	c.723T>A	c.(721-723)gtT>gtA	p.V241V	MCU_ENST00000357157.6_Silent_p.V269V|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.V290V	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	290					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGGAATATGTTTATCCAGAAG	0.323000													14	49					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690878	38690878	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:38690878C>T	ENST00000449981.2	+	2	402	c.293C>T	c.(292-294)tCg>tTg	p.S98L						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGATTTCGGAAGTGCTG	0.502000													21	85					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77936242	77936242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:77936242G>A	ENST00000361507.4	-	5	1299	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	GAB2_ENST00000340149.2_Missense_Mutation_p.S367F	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	405					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGTCTCACAGGAAGAAGCTGA	0.507000													10	73					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111666393	111666393	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111666393G>A	ENST00000389811.4	+	11	1040	c.816G>A	c.(814-816)aaG>aaA	p.K272K	ACOXL_ENST00000439055.1_Silent_p.K272K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	272					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCAAAACCAAGGAAGAGGTGA	0.532000													9	81					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030480	142030480	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:142030480G>A	ENST00000264951.4	-	42	5111	c.4994C>T	c.(4993-4995)tCt>tTt	p.S1665F	XRN1_ENST00000392981.2_Missense_Mutation_p.S1653F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1665					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.S1665Y(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AACTTGAAAAGAAGATGCAGG	0.423000													19	96					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714469	183714469	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:183714469G>A	ENST00000511685.1	+	26	6767	c.6644G>A	c.(6643-6645)cGa>cAa	p.R2215Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R2215Q					teneurin transmembrane protein 3																		CTTCTAACTCGAGTTTACAGT	0.483000													11	44					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202128	22202128	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:22202128C>T	ENST00000344041.6	-	13	1168	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E136K	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	136					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGAGTTTTCCTCTTTGCCT	0.348000													5	47					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851670	38851670	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:38851670G>A	ENST00000359357.3	+	54	7758	c.7504G>A	c.(7504-7506)Gtg>Atg	p.V2502M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V2466M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2719M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAAGCTACGTGGATAAGCG	0.363000													16	94					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658447	142658447	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142658447G>A	ENST00000355265.2	-	3	697	c.223_splice	c.e3+1	p.R75_splice	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	75					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTTGCTTACGAGGGCCACAG	0.597000													13	97					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156739	129156739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:129156739C>T	ENST00000429544.2	-	2	354	c.159G>A	c.(157-159)atG>atA	p.M53I	MBD4_ENST00000249910.1_Missense_Mutation_p.M53I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000507208.1_Missense_Mutation_p.M53I|MBD4_ENST00000503197.1_Missense_Mutation_p.M53I|MBD4_ENST00000393278.2_Missense_Mutation_p.M53I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	53					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTTTTATCATCATTTGTTCCT	0.383000								Base excision repair (BER), DNA glycosylases					33	171					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462722	5462722	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5462722G>A	ENST00000380211.1	-	1	22	c.23C>T	c.(22-24)cCc>cTc	p.P8L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGGAAGGGGGTGCCATT	0.502000													13	110					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78199645	78199645	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78199645G>A	ENST00000361193.3	+	6	803	c.523G>A	c.(523-525)Gga>Aga	p.G175R	SLC26A11_ENST00000546047.2_Missense_Mutation_p.G175R|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G175R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G175R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	175						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAACCTGCTGGGACTACAGAA	0.582000													53	163					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8242619	8242619	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8242619G>A	ENST00000339754.5	+	2	261	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	61					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCAAACTCGAGGATAAAGTTT	0.428000													14	102					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912865	77912865	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:77912865G>A	ENST00000321110.1	-	2	1348	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	351							nucleic acid binding|zinc ion binding	p.N351K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTCATCCCAGTTCAGCTCTT	0.478000													14	30					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860889	38860889	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:38860889C>T	ENST00000409235.3	+	28	3319	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F	CATSPERG_ENST00000410018.1_Silent_p.F1028F|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1068					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGGCCCTTTTCATCATCATGG	0.587000													11	37					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094957	46094957	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:46094957C>T	ENST00000323040.4	-	2	1112	c.168G>A	c.(166-168)ctG>ctA	p.L56L	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	56						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGAGGTTCATCAGGTAGACGC	0.632000													30	78					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8293230	8293230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:8293230G>A	ENST00000307358.2	+	4	1046	c.842G>A	c.(841-843)gGc>gAc	p.G281D	HTRA3_ENST00000382512.3_Missense_Mutation_p.G281D	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	281	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CAGCGGGAGGGCAGGGAGCTG	0.652000													7	22					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96772123	96772123	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:96772123G>A	ENST00000359933.4	-	31	5429	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1512										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATCAACCATGATTTTTATAA	0.368000													12	35					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760200	133760200	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:133760200C>T	ENST00000318560.5	+	11	2904	c.2523C>T	c.(2521-2523)gcC>gcT	p.A841A		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	841	Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGGGCAGTGCCTTAGGGACCC	0.687000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								7	31					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40687408	40687408	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:40687408C>T	ENST00000298910.7	+	21	2809	c.2751C>T	c.(2749-2751)taC>taT	p.Y917Y	LRRK2_ENST00000343742.2_Silent_p.Y917Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	917					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAGAATTTTACCGAGATGCCG	0.333000													5	49					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229653	39229653	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39229653G>A	ENST00000340369.3	-	2	1512	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.A428A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	428							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTCTGGGGGGCACTCTGAG	0.557000													68	232					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953605	186953605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:186953605G>A	ENST00000296280.6	-	11	2279	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.S572F	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	667	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCCCCCCCAGGACACCAGGCC	0.572000													10	48					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224018	43224018	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:43224018A>T	ENST00000255226.6	+	10	2060	c.1244A>T	c.(1243-1245)aAc>aTc	p.N415I	SLC14A2_ENST00000586448.1_Missense_Mutation_p.N415I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	415						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGACGACAAACAACCCAGCC	0.552000													43	135					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374338	62374338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62374338G>A	ENST00000266077.2	+	8	1211	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	387						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGGTTCCTGGACTAAGTCCG	0.657000													5	13					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158773	111158773	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:111158773C>T	ENST00000360467.5	+	46	4720	c.4414C>T	c.(4414-4416)Cgt>Tgt	p.R1472C	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1472	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCACCAGGCCGTCCAGGGAG	0.672000													4	24					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90014223	90014223	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:90014223G>A	ENST00000222511.6	+	10	985	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	GTPBP10_ENST00000257659.8_Missense_Mutation_p.E228K	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACAT	0.328000													9	48					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75301980	75301980	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:75301980G>A	ENST00000325680.7	+	20	6431	c.6307G>A	c.(6307-6309)Gac>Aac	p.D2103N	YLPM1_ENST00000552421.1_Missense_Mutation_p.D1397N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1908					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGATGGGCAGACCTGGAAGA	0.468000													11	56					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853043	45853043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:45853043C>T	ENST00000311275.7	-	19	3376	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.W989*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.W1015*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.W1068*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.W1041*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.W1061*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.W1015*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.W1041*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.W909*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.W932*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.W990*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.W963*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.W995*			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1041							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCTAGTGTTCCAACAGCAGT	0.572000													52	193					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391897	58391897	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:58391897A>G	ENST00000361987.4	+	2	585	c.505A>G	c.(505-507)Aca>Gca	p.T169A	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	169					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTCACAGTGGACAGTAAGGTC	0.478000													8	88					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94044561	94044561	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94044561C>T	ENST00000297268.6	+	30	2214	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	581					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGTTTGGTCTCCCTGGTCCTG	0.358000										HNSCC(75;0.22)			36	173					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287821	57287821	+	Missense_Mutation	SNP	C	C	T	rs147794106	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:57287821C>T	ENST00000543872.2	+	2	673	c.409C>T	c.(409-411)Ctt>Ttt	p.L137F	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.L137F|SMG8_ENST00000578922.1_Missense_Mutation_p.L137F|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	137					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGACTACAGCCTTCTGCAGGC	0.582000													9	24					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209121	193209121	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:193209121C>T	ENST00000342695.4	-	6	922	c.600G>A	c.(598-600)aaG>aaA	p.K200K	ATP13A4_ENST00000295548.3_Silent_p.K200K|ATP13A4_ENST00000392443.3_Silent_p.K200K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	200					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAATTACCTCCTTGATGAGCA	0.363000													23	98					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892430	71892430	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71892430G>A	ENST00000258104.3	+	46	5473	c.5196G>A	c.(5194-5196)gaG>gaA	p.E1732E	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.E1750E|DYSF_ENST00000413539.2_Silent_p.E1763E|DYSF_ENST00000409582.3_Silent_p.E1770E|DYSF_ENST00000410020.3_Silent_p.E1771E|DYSF_ENST00000409744.1_Silent_p.E1740E|DYSF_ENST00000409762.1_Silent_p.E1749E|DYSF_ENST00000394120.2_Silent_p.E1733E|DYSF_ENST00000409651.1_Silent_p.E1764E|DYSF_ENST00000429174.2_Silent_p.E1753E|DYSF_ENST00000409366.1_Silent_p.E1754E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1732						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCATTGAAGAGATAGGTGAGC	0.522000													13	81					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534024	55534024	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55534024G>A	ENST00000220676.1	+	2	646	c.498G>A	c.(496-498)acG>acA	p.T166T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCGAAGACGAGGCGTGCGG	0.647000													27	165					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033180	228033180	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228033180C>T	ENST00000366757.3	+	4	617	c.593C>T	c.(592-594)tCa>tTa	p.S198L		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	198	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTGAGACCTCAGACGAGCTG	0.642000													3	28					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175092	63175092	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:63175092G>A	ENST00000322893.7	-	11	2369	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	701					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGTCCACGGGAATGCTGAGG	0.532000													38	122					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029407	119029407	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:119029407C>T	ENST00000307417.3	+	11	1672	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ABCG4_ENST00000449422.2_Silent_p.F436F|ABCG4_ENST00000531739.1_Silent_p.F436F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	436	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCTCATGTTCGCCGCCCTCA	0.627000													9	76					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230683105	230683105	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:230683105G>A	ENST00000283943.5	-	8	1608	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	TRIP12_ENST00000389045.3_Missense_Mutation_p.P180L|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.P525L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	477					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTCTTGACAGGAAACCCTCC	0.428000													17	136					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124729387	124729387	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:124729387G>A	ENST00000311127.4	-	7	3036	c.2969C>T	c.(2968-2970)gCt>gTt	p.A990V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	990	EGF-like 1.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGGGTTCACAGCACAGCTGTT	0.483000													4	5					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28075619	28075619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:28075619C>T	ENST00000373954.6	+	6	655	c.553C>T	c.(553-555)Cca>Tca	p.P185S	FAM76A_ENST00000530324.1_Missense_Mutation_p.P185S|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000234549.7_Intron|FAM76A_ENST00000010299.6_Missense_Mutation_p.P219S|FAM76A_ENST00000373949.1_Intron	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	185										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGAAATCCCAAAGAAAAA	0.358000													5	59					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286151	57286151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286151G>A	ENST00000391708.3	-	12	2031	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	ZIM2_ENST00000601070.1_Nonsense_Mutation_p.Q497*|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.Q497*|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.Q497*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.Q497*	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCACATAGCTGACACTGGTAA	0.458000													5	57					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359078	24359078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24359078C>T	ENST00000175238.6	+	20	2280	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	ADAM7_ENST00000380789.1_Missense_Mutation_p.H733Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.H505Y|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	733					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAGAAATTCATTTCCTAAA	0.388000													23	61					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234534127	234534127	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:234534127C>T	ENST00000040877.1	-	26	4243		c.e26+1		TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1						regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTATTTTTTACCTATGTCTTG	0.328000													7	53					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646596	80646596	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:80646596G>A	ENST00000299564.8	-	5	1300	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	CDYL2_ENST00000563890.1_Missense_Mutation_p.P383L|CDYL2_ENST00000566173.1_Missense_Mutation_p.P383L|CDYL2_ENST00000562812.1_Missense_Mutation_p.P383L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	382						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCGTAGGGCGTCTGGAA	0.652000													17	67					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451426	25451426	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:25451426C>T	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGATGAGAACCTTATATTGTC	0.502000													64	352					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773479	17773479	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:17773479G>A	ENST00000406397.1	+	2	663	c.138G>A	c.(136-138)gaG>gaA	p.E46E	VSNL1_ENST00000404666.2_Silent_p.E46E|VSNL1_ENST00000295156.4_Silent_p.E46E			P62760	VISL1_HUMAN	visinin-like 1	46	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAAATCTCGAGGAATTTCAGC	0.433000													19	151					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152730297	152730297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152730297C>T	ENST00000367255.5	-	44	7047	c.6446G>A	c.(6445-6447)gGa>gAa	p.G2149E	SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2149					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGTGTTTTCCTTTGCTGGT	0.358000										HNSCC(10;0.0054)			9	50					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260714	30260714	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:30260714C>T	ENST00000378982.2	+	1	658	c.462C>T	c.(460-462)gtC>gtT	p.V154V		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	154	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TCAGGAAAGTCTCTCAGCGCA	0.493000													7	15					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596654	24596654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:24596654G>A	ENST00000535378.1	-	4	863	c.221C>T	c.(220-222)cCc>cTc	p.P74L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.P38L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P83L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P83L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P83L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	83	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCTTTGTGGGGGCAGCTCAC	0.597000													15	52					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745847	120745847	+	Splice_Site	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:120745847G>T	ENST00000527524.2	+	11	1346		c.e11-1		RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Splice_Site			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4						glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTCTTGGACAGGTAGAATTGG	0.468000													12	51					0.00185496	0.00186695	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39379267	39379267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:39379267C>T	ENST00000518318.2	+	5	580	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q180*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q172*|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCCCAGCTCcagcagctcca	0.597000													6	26					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663228	53663228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:53663228C>T	ENST00000257934.4	+	3	593	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R168W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	168					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTTGCAGCTCGGCTGAAGGC	0.582000													9	118					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:2676817C>T	ENST00000399655.1	+	13	2017	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	584					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTACTTCGTGTCCCTCT	0.607000													6	26					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477557	128477557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:128477557C>T	ENST00000325888.8	+	4	1066	c.805C>T	c.(805-807)Cga>Tga	p.R269*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.R269*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	269					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCCCTGTTCGATCCAAGCA	0.597000													20	90					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733176	11733176	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:11733176G>A	ENST00000381486.2	+	11	1920	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	GREB1_ENST00000234142.5_Silent_p.K540K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	540						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCGAGGGCAAGCTTGCCAAGA	0.662000													9	34					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720650	140720650	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140720650C>T	ENST00000394576.2	+	1	2112	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTCTTCCTGGCCTTCG	0.657000													20	179					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101174522	101174522	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:101174522A>C	ENST00000388798.2	+	2	205	c.14A>C	c.(13-15)gAt>gCt	p.D5A	SPAG1_ENST00000520643.1_Missense_Mutation_p.D5A|SPAG1_ENST00000520508.1_Missense_Mutation_p.D5A|SPAG1_ENST00000251809.3_Missense_Mutation_p.D5A	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	5					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACCACCAAAGATTATCCATCA	0.289000													8	34					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608125	145608125	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:145608125G>A	ENST00000334163.3	-	4	732	c.572C>T	c.(571-573)cCt>cTt	p.P191L	POLR3C_ENST00000369294.1_Missense_Mutation_p.P191L|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	191					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGAGTTTAGGAACCAGGTA	0.453000													25	136					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282703	55282703	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:55282703G>A	ENST00000358193.3	+	9	1146	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	C1orf177_ENST00000371273.3_Missense_Mutation_p.M364I	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	364										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCTGGCTGATGGAGACAAAGG	0.577000													16	63					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457003	7457003	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7457003G>A	ENST00000399422.4	+	1	124	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	26					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTTACACAAAGATCACCAGCT	0.463000													35	183					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543421	178543421	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:178543421G>A	ENST00000432997.1	+	3	454	c.102G>A	c.(100-102)agG>agA	p.R34R	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R34R|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R34R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R34R	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	34	Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGGACAAAAGGAAAACAGTCA	0.433000													28	197					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786786	67786786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67786786C>T	ENST00000422365.2	+	4	421	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84F|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84F|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84F|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21F	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	84					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGTTAAGACTCTCTCATTAAT	0.294000													8	18					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98938117	98938117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:98938117C>T	ENST00000556029.1	+	5	1129	c.773C>T	c.(772-774)cCa>cTa	p.P258L	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	258	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGAAGAACTCCAAGGAAAAGG	0.378000													12	97					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505352	101505352	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:101505352G>A	ENST00000392979.3	+	23	2570	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R	ANO4_ENST00000299222.9_Missense_Mutation_p.G292R|ANO4_ENST00000392977.3_Missense_Mutation_p.G772R|ANO4_ENST00000550015.1_Missense_Mutation_p.G292R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	772						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATTTGGTATGGAATTCTTGA	0.318000										HNSCC(74;0.22)			17	76					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108330161	108330161	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:108330161C>T	ENST00000361582.3	+	4	473	c.243C>T	c.(241-243)tcC>tcT	p.S81S	DZIP3_ENST00000463306.1_Silent_p.S81S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	81					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGATTTTTCCTTCCAAACTA	0.323000													15	54					0	0	1	0	0
PRRT1	80863	broad.mit.edu	37	6	32119657	32119657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:32119657C>T	ENST00000375150.2	-	3	212	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.A10T			Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	93					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGTCCTCGGCCGGTGCTGGA	0.677000													26	60					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815200	106815200	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:106815200C>T	ENST00000407775.2	+	8	3140	c.2890C>T	c.(2890-2892)Cca>Tca	p.P964S	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P695S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P832S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P832S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	964					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)			TTTGTTTCTTCCACAATGCCT	0.413000													4	21					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317348	30317348	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:30317348C>T	ENST00000375377.1	-	3	1830	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	577								p.E577*(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AATATAGTCTCGTTCATTTTT	0.418000													24	110					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671937	45671937	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:45671937C>T	ENST00000308064.2	-	4	1207	c.537G>A	c.(535-537)ggG>ggA	p.G179G		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	179					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCACACAGTCCCCCTCCTCCA	0.726000													5	59					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228588893	228588893	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228588893C>T	ENST00000460651.1	-	2	37		c.e2-1		TRIM11_ENST00000366699.3_Silent_p.K169K|TRIM11_ENST00000493030.2_Silent_p.K44K|TRIM11_ENST00000284551.6_Silent_p.K169K			Q96F44	TRI11_HUMAN	tripartite motif containing 11						response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCTCCACCATCTTCTGTGGAG	0.652000													4	52					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652694	152652694	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152652694G>A	ENST00000367255.5	-	78	13727	c.13126C>T	c.(13126-13128)Cct>Tct	p.P4376S	SYNE1_ENST00000341594.5_Missense_Mutation_p.P4241S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P4376S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P4305S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P4305S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4376					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATATCTGGAGGAGGGCTCTGC	0.522000										HNSCC(10;0.0054)			13	45					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096266	144096266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:144096266G>A	ENST00000467773.1	-	8	1245	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	NOBOX_ENST00000483238.1_Missense_Mutation_p.P384S|NOBOX_ENST00000223140.5_Missense_Mutation_p.P299S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	416	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCAGCATGGGGGGCTCTAGG	0.597000													9	25					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12010487	12010487	+	Missense_Mutation	SNP	T	T	C	rs144702307		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12010487T>C	ENST00000196061.4	+	4	403	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.F173L	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	126					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGGTGGTCTTCTCTGCTGA	0.622000													6	67					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855057	53855057	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:53855057C>T	ENST00000458035.1	+	4	1246	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.H377Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGGAAAATTCATACTGGAGA	0.403000													9	50					0	0	1	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720888	31720888	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:31720888G>A	ENST00000334160.4	-	1	36	c.37C>T	c.(37-39)Cat>Tat	p.H13Y		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	13						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						TCACAGGAATGGGAGGAGAAG	0.547000													10	124					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860935	16860935	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:16860935C>T	ENST00000524140.2	+	6	1900	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	NWD1_ENST00000379808.3_Silent_p.P494P|NWD1_ENST00000552788.1_Silent_p.P494P|NWD1_ENST00000549814.1_Silent_p.P494P|NWD1_ENST00000523826.1_Silent_p.P288P|NWD1_ENST00000339803.6_Silent_p.P359P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	494	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGTGAAGCCCCTTTCCGGAA	0.637000													10	87					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271887	17271887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:17271887G>A	ENST00000544301.1	+	2	879	c.466G>A	c.(466-468)Gag>Aag	p.E156K	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.E156K|VIM_ENST00000485947.1_3'UTR	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	156	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGCGGGAGCTGCGCCG	0.642000													5	16					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721774	26721774	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:26721774C>T	ENST00000380573.3	-	2	1736	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ADRA1A_ENST00000380572.3_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R238Q|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R238Q|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R238Q|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R238Q|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R238Q			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	238					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GGCGTTTTTCCGATGGATGCG	0.637000													4	59					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33770918	33770918	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33770918T>G	ENST00000285013.6	-	4	1363	c.1088A>C	c.(1087-1089)gAg>gCg	p.E363A	SLFN13_ENST00000360502.2_Missense_Mutation_p.E45A|SLFN13_ENST00000542635.1_Missense_Mutation_p.E363A|SLFN13_ENST00000534689.1_Missense_Mutation_p.E45A|SLFN13_ENST00000526861.1_Missense_Mutation_p.E363A|SLFN13_ENST00000533791.1_Missense_Mutation_p.E363A	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	363						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCAAAGGCCTCAGCAAAGTC	0.398000													4	52					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54651414	54651414	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:54651414C>T	ENST00000209875.4	-	2	157	c.21G>A	c.(19-21)cgG>cgA	p.R7R	CBX5_ENST00000550411.1_Silent_p.R7R|CBX5_ENST00000439541.2_Silent_p.R7R	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	7					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TGTCAGCTGTCCGCTTGGTTT	0.493000													25	98					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	C	T	rs138313532	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:20559726C>T	ENST00000329697.6	-	7	1132	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000													31	104					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456161	76456161	+	Silent	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:76456161G>T	ENST00000396423.2	+	2	328	c.204G>T	c.(202-204)ggG>ggT	p.G68G	HNF4G_ENST00000354370.1_Silent_p.G31G	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	31					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCTGTGATGGGTGCAAGGGTT	0.448000													12	146					1.5842e-08	1.60744e-08	1	1	0
SLC26A11	284129	broad.mit.edu	37	17	78199644	78199644	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78199644G>A	ENST00000361193.3	+	6	802	c.522G>A	c.(520-522)ctG>ctA	p.L174L	SLC26A11_ENST00000546047.2_Silent_p.L174L|SLC26A11_ENST00000572725.1_Silent_p.L174L|SLC26A11_ENST00000411502.3_Silent_p.L174L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	174						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAACCTGCTGGGACTACAGA	0.582000													53	166					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	681865	681865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:681865G>A	ENST00000301328.5	-	3	205	c.182C>T	c.(181-183)tCa>tTa	p.S61L	GLOD4_ENST00000536578.1_Missense_Mutation_p.S37L|GLOD4_ENST00000301329.6_Intron			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	61						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACTCACTTTGAGAAACTGTC	0.428000													7	12					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615075	55615075	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55615075G>A	ENST00000326258.1	+	1	267	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTCCCCAAGGAAAATTATCT	0.403000													28	135					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749325	62749325	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62749325G>C	ENST00000377871.3	-	4	1052	c.786C>G	c.(784-786)ttC>ttG	p.F262L	SLC22A6_ENST00000360421.4_Missense_Mutation_p.F262L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.F262L|SLC22A6_ENST00000458333.2_Missense_Mutation_p.F262L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	262					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGAGTAGATGAAGAAGGCAA	0.617000													5	21					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810001	33810001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:33810001G>A	ENST00000238823.8	-	8	1539	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	FAM98A_ENST00000441530.2_Missense_Mutation_p.R272C|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	468	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					cggcctccacgaccacctcgc	0.592000													8	94					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167672	27167672	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27167672A>C	ENST00000288699.6	+	12	1747	c.1589A>C	c.(1588-1590)gAa>gCa	p.E530A	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E530A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	530					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTCACGAATCCAGCTTC	0.622000													6	110					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181320	65181320	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:65181320C>T	ENST00000310045.7	-	2	2029	c.556G>A	c.(556-558)Ggt>Agt	p.G186S		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	176						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTGGCAAAACCTGTTAAGGAA	0.373000													9	50					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530490	54530490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:54530490G>A	ENST00000373968.3	-	2	308	c.244C>T	c.(244-246)Cca>Tca	p.P82S	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	82	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAAGGCCCTGGATTTCCTGGA	0.547000													28	58					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265760	10265760	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:10265760C>T	ENST00000418404.3	-	3	428	c.265G>A	c.(265-267)Gag>Aag	p.E89K	MYH13_ENST00000570743.1_Missense_Mutation_p.E89K|MYH13_ENST00000252172.4_Missense_Mutation_p.E89K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	89	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCATGTCCTCGATCTTGTCA	0.473000													25	201					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312884	25312884	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:25312884G>A	ENST00000524413.1	+	3	1079	c.732G>A	c.(730-732)caG>caA	p.Q244Q	THNSL1_ENST00000376356.4_Silent_p.Q244Q			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	244					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	ACTGTGAACAGAAGGTTTCAG	0.423000													20	85					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802642	133802642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:133802642G>A	ENST00000367895.5	+	12	1476	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	EYA4_ENST00000355286.6_Missense_Mutation_p.D315N|EYA4_ENST00000525849.1_Missense_Mutation_p.D315N|EYA4_ENST00000355167.3_Missense_Mutation_p.D338N|EYA4_ENST00000452339.2_Missense_Mutation_p.D284N|EYA4_ENST00000431403.2_Missense_Mutation_p.D338N|EYA4_ENST00000430974.2_Missense_Mutation_p.D290N|EYA4_ENST00000531901.1_Missense_Mutation_p.D344N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	338					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACCCATCAAAGATCTTGATGA	0.458000													43	131					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169505801	169505801	+	Silent	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:169505801T>C	ENST00000367796.3	-	14	5130	c.4929A>G	c.(4927-4929)gaA>gaG	p.E1643E	F5_ENST00000367797.3_Silent_p.E1638E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1638	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGAGATGCTCTTCATACTCCC	0.408000													14	69					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240702	155240702	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:155240702G>A	ENST00000368361.4	-	2	382	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	CLK2_ENST00000355560.4_Missense_Mutation_p.R23W|CLK2_ENST00000536801.1_Missense_Mutation_p.R23W|CLK2_ENST00000361168.5_Missense_Mutation_p.R23W			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTCGGCTCCGATAGTGTTCA	0.572000								Other conserved DNA damage response genes					22	100					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52369269	52369269	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:52369269C>T	ENST00000257963.4	+	2	389	c.312C>T	c.(310-312)atC>atT	p.I104I	ACVR1B_ENST00000541224.1_Silent_p.I104I|ACVR1B_ENST00000542485.1_Silent_p.I52I|ACVR1B_ENST00000426655.2_Silent_p.I104I|ACVR1B_ENST00000415850.2_Silent_p.I104I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	104					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCAACAGGATCGACTTGAGGG	0.567000													5	62					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239972	65239972	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:65239972G>A	ENST00000389722.3	-	24	5197	c.5144C>T	c.(5143-5145)tCc>tTc	p.S1715F	SPTB_ENST00000389720.3_Missense_Mutation_p.S1715F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1715F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1715F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1715F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1715					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATTTCCGGGGAAGAGGCCAC	0.547000													15	38					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27172647	27172647	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27172647A>G	ENST00000380036.4	+	5	1104	c.662A>G	c.(661-663)aAc>aGc	p.N221S	TEK_ENST00000519097.1_Missense_Mutation_p.N117S|TEK_ENST00000406359.4_Missense_Mutation_p.N221S	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	221	EGF-like 1.				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)		CCTGAATGCAACCATCTCTGT	0.473000													11	45					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4598983	4598983	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4598983C>T	ENST00000307616.1	-	1	67	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	23										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		tgggtcccctctgtccatctg	0.552000													3	12					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374895	8374895	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8374895C>T	ENST00000538603.1	-	7	1476	c.918G>A	c.(916-918)aaG>aaA	p.K306K	FAM90A1_ENST00000307435.6_Silent_p.K306K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	306							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTCGGTTTCTTGGGGAAGT	0.637000													7	76					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135125390	135125390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:135125390C>T	ENST00000359035.3	+	5	728	c.725C>T	c.(724-726)tCg>tTg	p.S242L	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000361518.5_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AACATGTGTTCGGTGCTGAGG	0.547000													24	80					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33610771	33610771	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:33610771C>T	ENST00000399022.4	-	4	657	c.486_splice	c.e4+1	p.Q162_splice	RPRD1A_ENST00000357384.4_Splice_Site_p.Q162_splice|RPRD1A_ENST00000337059.5_Splice_Site_p.Q126_splice|RPRD1A_ENST00000319040.6_Splice_Site_p.Q162_splice|RPRD1A_ENST00000590898.1_Splice_Site_p.Q126_splice|RPRD1A_ENST00000588737.1_Splice_Site_p.Q126_splice	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	162										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AAATTTCTACCTGTGGTGGTT	0.358000													9	32					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096315	41096315	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:41096315C>T	ENST00000291842.5	+	16	1804	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	SHKBP1_ENST00000600733.1_Silent_p.L560L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	585						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGACGGCCTCGGCCAGGCCC	0.687000													3	30					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931631	184931631	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:184931631C>T	ENST00000308497.4	+	3	3075	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	STOX2_ENST00000438269.1_Missense_Mutation_p.S547L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	547					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTCACATTTCGTCCACAAGC	0.532000													7	20					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851014	160851014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160851014G>A	ENST00000326245.3	-	5	609	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	165	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCAGCAGGGAGCTGTTTCT	0.567000													40	169					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137717748	137717748	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:137717748G>A	ENST00000371817.3	+	63	5479	c.5065G>A	c.(5065-5067)Ggg>Agg	p.G1689R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1689	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAAGTCCGAAGGGGTGAGTAG	0.562000													6	42					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47574946	47574946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:47574946C>T	ENST00000273859.3	+	18	3567	c.3298C>T	c.(3298-3300)Ctt>Ttt	p.L1100F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1100					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAGCTCCTTCTTGTCCATGG	0.443000													39	176					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858007	9858007	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:9858007G>A	ENST00000396573.2	-	14	3703	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1132S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P975S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1132S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1132S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1132S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1132					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACTGGGGTGGATCTAAGTGG	0.527000													15	138					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136805	40136805	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:40136805C>T	ENST00000278198.2	-	2	3001	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	LRRC4C_ENST00000528697.1_Silent_p.Q346Q|LRRC4C_ENST00000530763.1_Silent_p.Q346Q|LRRC4C_ENST00000527150.1_Silent_p.Q346Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	346	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAAGTAATTCTGGTCGAGCT	0.537000													19	48					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974661	49974661	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:49974661G>A	ENST00000555099.1	+	1	719	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACAGCTTAGAGGCAAGGCACG	0.478000													10	117					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036809	240036809	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:240036809G>A	ENST00000345617.3	-	13	2507	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	HDAC4_ENST00000543185.1_Silent_p.P156P|HDAC4_ENST00000541256.1_Silent_p.P546P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	572					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTCCCGTGGGGGCTCTGCCT	0.697000													11	105					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36215910	36215910	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36215910C>T	ENST00000222270.7	+	10	3450	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P	WBP7_ENST00000420124.1_Silent_p.P1150P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CCCCTGGCCCCTTTGCTTCTT	0.592000													11	51					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773481	17773481	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:17773481A>T	ENST00000406397.1	+	2	665	c.140A>T	c.(139-141)gAa>gTa	p.E47V	VSNL1_ENST00000404666.2_Missense_Mutation_p.E47V|VSNL1_ENST00000295156.4_Missense_Mutation_p.E47V			P62760	VISL1_HUMAN	visinin-like 1	47	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATCTCGAGGAATTTCAGCAG	0.428000													18	149					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488005	24488005	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:24488005C>A	ENST00000264463.4	-	12	2641	c.2134G>T	c.(2134-2136)Gat>Tat	p.D712Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTAATGAAATCCCGGACGTCC	0.468000										HNSCC(23;0.051)			7	67					0.0809354	0.0811309	1	1	0
PCNT	5116	broad.mit.edu	37	21	47831555	47831555	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:47831555C>T	ENST00000359568.5	+	28	5675	c.5568C>T	c.(5566-5568)atC>atT	p.I1856I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1856					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCCCGGATCCAGGAGTTCG	0.617000													10	53					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201521584	201521584	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:201521584T>C	ENST00000374700.2	+	27	3336	c.3095T>C	c.(3094-3096)aTt>aCt	p.I1032T	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1032					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGTTCACATTTATCTTGAT	0.408000													11	76					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508893	36508893	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36508893C>A	ENST00000360535.4	-	10	1411	c.1183_splice	c.e10-1	p.G395_splice	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Splice_Site_p.G395_splice	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	395					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCTTCTTGCCTAAGGGTAG	0.592000													3	41					1	1	1	1	0
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:183887886C>T	ENST00000313143.3	+	14	1839	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	DVL3_ENST00000431765.1_Missense_Mutation_p.P514S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682000													19	92					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294827	5294827	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:5294827G>A	ENST00000546004.1	-	2	435	c.189C>T	c.(187-189)atC>atT	p.I63I	PROKR2_ENST00000217270.3_Silent_p.I63I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGACCAGCATGATGCCTGCCA	0.527000										HNSCC(71;0.22)			30	85					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48807854	48807854	+	Missense_Mutation	SNP	C	C	T	rs144911860		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:48807854C>T	ENST00000309835.3	+	1	92	c.82C>T	c.(82-84)Cct>Tct	p.P28S	STON1_ENST00000406226.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P28S|STON1_ENST00000404752.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P28S					stonin 1									p.P28S(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAATTTTCCTCTGGAGAA	0.473000													14	57					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620811	7620811	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:7620811C>T	ENST00000486284.1	+	8	2492	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	GRM7_ENST00000402647.2_Missense_Mutation_p.P740S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.P740S|GRM7_ENST00000357716.4_Missense_Mutation_p.P740S|GRM7_ENST00000389336.4_Missense_Mutation_p.P740S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	740					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACAATGAACCCTGAGCAAGC	0.418000													30	95					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191451	50191451	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:50191451A>G	ENST00000216267.8	-	5	2585		c.e5+1		BRD1_ENST00000404034.1_Splice_Site|BRD1_ENST00000342989.5_Splice_Site|BRD1_ENST00000457780.2_Splice_Site|BRD1_ENST00000404760.1_Splice_Site|BRD1_ENST00000542442.1_Splice_Site	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCAGTTCTTACCGTCTTCCC	0.652000													3	40					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61388197	61388197	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:61388197G>A	ENST00000544088.1	+	0	813				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTGCTTCCAGTAGGCATAGC	0.383000													11	11					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358740	121358740	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:121358740G>A	ENST00000260197.7	+	4	657		c.e4-1		SORL1_ENST00000532451.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCCCTTGCAGTACATCTTTG	0.522000													67	492					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040771	39040771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:39040771G>A	ENST00000373256.4	+	6	686	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	215					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCACCAGTGGGATGGGCTCCT	0.612000													18	113					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302531	6302531	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:6302531C>T	ENST00000344683.5	+	8	1364	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	MCPH1_ENST00000519480.1_Missense_Mutation_p.P430S|MCPH1_ENST00000522905.1_Missense_Mutation_p.P382S	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	430						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGAGAATCTTCCTCCTGAATC	0.453000													10	124					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35864598	35864598	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:35864598C>T	ENST00000314607.6	+	22	3467	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	ZMYM4_ENST00000373297.2_Silent_p.F1040F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1129					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAAGCAGTTCTCAAAAGGGG	0.428000													10	62					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394788	29394788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29394788G>A	ENST00000377149.1	-	5	1103	c.631C>T	c.(631-633)Cct>Tct	p.P211S	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.P211S|OR11A1_ENST00000377147.2_Missense_Mutation_p.P211S			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTCCAAAAGGAATAGTGAGG	0.507000													15	46					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771891	152771891	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152771891G>A	ENST00000367255.5	-	27	3865	c.3264C>T	c.(3262-3264)ctC>ctT	p.L1088L	SYNE1_ENST00000367253.4_Silent_p.L1088L|SYNE1_ENST00000341594.5_Silent_p.L1154L|SYNE1_ENST00000265368.4_Silent_p.L1088L|SYNE1_ENST00000423061.1_Silent_p.L1095L|SYNE1_ENST00000367248.3_Silent_p.L1078L|SYNE1_ENST00000413186.2_Silent_p.L1088L|SYNE1_ENST00000448038.1_Silent_p.L1095L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1088					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGCACTGGGAGTTTCACAC	0.468000										HNSCC(10;0.0054)			44	152					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9881917	9881917	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9881917C>T	ENST00000383820.5	-	7	676	c.675G>A	c.(673-675)gtG>gtA	p.V225V	RPUSD3_ENST00000424438.1_Silent_p.V193V|RPUSD3_ENST00000433535.2_Silent_p.V210V|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	225					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGTGGCTACCACACGAAAGT	0.557000													34	173					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013407	149013407	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:149013407C>T	ENST00000535454.1	+	4	910	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R121C|MAGEA8_ENST00000542674.1_Missense_Mutation_p.R121C	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	121	MAGE.		R -> H (in dbSNP:rs35744768).					p.R121C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTAGTTCGTTTCCTGCT	0.493000													24	61					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878571	185878571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:185878571C>T	ENST00000271588.4	+	5	953	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P242S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	242					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTTTTGATCCCAGCCTGAA	0.388000													13	72					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25568610	25568610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:25568610G>A	ENST00000269141.3	-	11	2042	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	CDH2_ENST00000399380.3_Missense_Mutation_p.P509L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	540	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAATTGGCAGGATCAGATAA	0.284000													4	23					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815353	106815353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:106815353C>T	ENST00000407775.2	+	8	3293	c.3043C>T	c.(3043-3045)Cct>Tct	p.P1015S	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P746S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P883S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P883S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1015					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)			AAATGAATCTCCTAAAGGCCA	0.418000													8	58					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150440	21150440	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21150440G>A	ENST00000255882.6	-	18	2357	c.2271C>T	c.(2269-2271)gcC>gcT	p.A757A	PI4KA_ENST00000572273.1_Silent_p.A699A	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	699					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTACCTTTAGGGCAGGGCCCT	0.572000													6	40					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76472765	76472765	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76472765G>A	ENST00000389840.5	-	52	8125	c.8001C>T	c.(7999-8001)gtC>gtT	p.V2667V	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.V2676V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCAAAGGCGGACGAGGTCCA	0.502000													4	23					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106986	90106986	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:90106986C>T	ENST00000405460.2	+	74	16005	c.15909C>T	c.(15907-15909)ttC>ttT	p.F5303F	GPR98_ENST00000425867.2_Silent_p.F964F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5303	Calx-beta 34.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F5303F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCTTATATTCCTAGATGGAG	0.408000													5	24					0	0	1	0	0
RAB31	11031	broad.mit.edu	37	18	9859270	9859270	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:9859270G>A	ENST00000578921.1	+	7	777	c.536G>A	c.(535-537)gGa>gAa	p.G179E	RAB31_ENST00000577284.1_3'UTR	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	178					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GGAAACAATGGAACAATCAAA	0.557000													6	56					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198190	101198190	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:101198190G>A	ENST00000294728.2	+	7	1843	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	VCAM1_ENST00000347652.2_Missense_Mutation_p.G489E|VCAM1_ENST00000370115.1_Missense_Mutation_p.G382E|VCAM1_ENST00000370119.4_Missense_Mutation_p.G519E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTATGTGAAGGAATTAACCAG	0.408000													40	144					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24104250	24104250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:24104250G>A	ENST00000303531.7	+	6	820	c.668G>A	c.(667-669)tGg>tAg	p.W223*	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Nonsense_Mutation_p.W223*	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	223	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AACCCTGAGTGGAATGAGACA	0.478000													18	70					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141724851	141724851	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:141724851A>G	ENST00000475668.2	+	8	938	c.882_splice	c.e8-1	p.N295_splice	MGAM_ENST00000549489.2_Splice_Site_p.N295_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	295	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCTGCAGAACGGAACTAAT	0.403000													10	47					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078215	111078215	+	Silent	SNP	G	G	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:111078215G>T	ENST00000262839.2	-	7	2748	c.1830C>A	c.(1828-1830)gtC>gtA	p.V610V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	610					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGGGAGATGACATTGTATG	0.423000													5	306					0.0293803	0.0294988	1	1	0
TFDP3	51270	broad.mit.edu	37	X	132352018	132352018	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:132352018G>A	ENST00000310125.4	-	1	358	c.270C>T	c.(268-270)tcC>tcT	p.S90S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	90						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGAGGAGTAGGAATGCTGGT	0.552000													32	59					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470537	10470537	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10470537G>A	ENST00000382483.3	-	4	1294	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	357					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCAGAACGGGGTCTTCCC	0.677000													22	94					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193602	7193602	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7193602G>A	ENST00000007699.5	-	5	775	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	238	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAGGCCGGGGGCCTCGCACA	0.622000													49	182					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557975	52557975	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52557975G>A	ENST00000321725.6	+	67	7560	c.7484G>A	c.(7483-7485)gGa>gAa	p.G2495E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2495					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGGTGGCCGGAGCTCTCTAC	0.657000													4	31					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9489222	9489222	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:9489222C>T	ENST00000352665.5	+	2	272	c.203C>T	c.(202-204)tCc>tTc	p.S68F	WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.S78F	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	68						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AACAACGTCTCCTGCTTGGCC	0.463000													24	165					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357836	56357836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:56357836G>A	ENST00000370754.5	-	84	20352	c.20353C>T	c.(20353-20355)Caa>Taa	p.Q6785*	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6607*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4410*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6496*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4519*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6281*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4193*			Q03001	DYST_HUMAN	dystonin	6605					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGAAGTCTTGGAGAGAATTG	0.428000													5	25					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15702028	15702028	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:15702028G>A	ENST00000281171.4	+	14	2635	c.2304_splice	c.e14-1	p.E769_splice	PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Splice_Site_p.E769_splice|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000445537.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	769	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAAACCCCAGGAACCAGTTGC	0.388000													38	194					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789376	164789376	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:164789376G>A	ENST00000420696.2	+	7	1253	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.G355G|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Silent_p.G250G|PBX1_ENST00000560641.1_Silent_p.G250G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	355					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CACTCAATGGGGATTCTTACC	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								22	132					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36317477	36317477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36317477C>T	ENST00000378910.5	-	29	3664	c.3665G>A	c.(3664-3666)gGa>gAa	p.G1222E	NPHS1_ENST00000353632.6_Missense_Mutation_p.G1182E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1222	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCAAGTCTCCGGCCACCTG	0.542000													8	58					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764158	184764158	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:184764158C>T	ENST00000367511.3	-	14	2933	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	914					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCACCTTCTCCCTCCTTCACG	0.512000													45	204					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99291500	99291500	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:99291500C>A	ENST00000393487.1	-	4	714	c.401G>T	c.(400-402)gGa>gTa	p.G134V	MGAT4A_ENST00000409391.1_Missense_Mutation_p.G134V|MGAT4A_ENST00000264968.2_Missense_Mutation_p.G134V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	134					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAACATACCTCCTGTTCTTCC	0.358000													4	51					1.024e-07	1.03733e-07	1	1	0
SCML2	10389	broad.mit.edu	37	X	18260571	18260571	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:18260571G>A	ENST00000251900.4	-	14	2121	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	654	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTTGCCTGAAGAGGTCGGCGA	0.473000													32	67					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701725	8701725	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:8701725G>A	ENST00000329805.4	-	1	942	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	238						integral to membrane		p.S238L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ACGCCTCCAAGGACAGGTCAA	0.607000													16	57					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28638383	28638383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:28638383C>T	ENST00000416984.2	-	11	1523	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	INTS9_ENST00000397363.4_Missense_Mutation_p.M303I|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000521777.1_Missense_Mutation_p.M385I|INTS9_ENST00000521022.1_Missense_Mutation_p.M409I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	409					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCCAGAGCTCCATGAAGTGGA	0.502000													20	62					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809129	48809129	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:48809129G>A	ENST00000309835.3	+	1	1367	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	STON1_ENST00000406226.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E453K|STON1_ENST00000404752.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E453K					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGGAACCTGGAATGCTTTTT	0.383000													10	126					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793991	15793991	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:15793991C>T	ENST00000359621.4	+	7	775	c.750C>T	c.(748-750)tcC>tcT	p.S250S	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACAAGCCCTCCGTCTTCACGC	0.627000													10	95					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161309653	161309653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161309653C>T	ENST00000428797.2	+	8	1004	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	GABRA1_ENST00000420560.1_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.Q217*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	217					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Q217K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACGTCTAAACCAGTATGACCT	0.408000													8	59					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118481179	118481179	+	Translation_Start_Site	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:118481179G>C	ENST00000542304.1	-	0	106				WSB2_ENST00000535496.1_Missense_Mutation_p.I64M|WSB2_ENST00000315436.3_Missense_Mutation_p.I62M|WSB2_ENST00000441406.2_Missense_Mutation_p.I79M|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron			Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTTTAGGGATGCTGGGAG	0.478000													11	89					0	0	1	0	0
ATP5J	522	broad.mit.edu	37	21	27097555	27097555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:27097555G>A	ENST00000400093.3	-	3	962	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP5J_ENST00000400087.3_Missense_Mutation_p.P91S|ATP5J_ENST00000284971.3_Missense_Mutation_p.P91S|ATP5J_ENST00000400090.3_Missense_Mutation_p.P91S|ATP5J_ENST00000400094.1_Missense_Mutation_p.P91S|ATP5J_ENST00000400099.1_Missense_Mutation_p.P91S|ATP5J_ENST00000457143.2_Missense_Mutation_p.P99S	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	91					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						TTGAAGGTGGGAAATGTATTC	0.388000													11	77					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369795	2369795	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:2369795C>T	ENST00000301732.5	-	8	1360	c.660G>A	c.(658-660)cgG>cgA	p.R220R	ABCA3_ENST00000382381.3_Silent_p.R220R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	220					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGATGGCCCGGTCCACAG	0.647000													12	103					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41448095	41448095	+	RNA	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:41448095A>T	ENST00000599198.1	+	0	1002					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCATGCTCAAATACCCTCATG	0.577000													10	79					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842008	8842008	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8842008C>T	ENST00000324060.2	+	1	693	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTGCTGATCCTAATGCTCC	0.572000													12	102					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485279	5485279	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:5485279C>T	ENST00000345221.3	-	3	1106	c.552G>A	c.(550-552)ggG>ggA	p.G184G	NLRP1_ENST00000354411.3_Silent_p.G184G|NLRP1_ENST00000262467.5_Silent_p.G184G|NLRP1_ENST00000572272.1_Silent_p.G184G|NLRP1_ENST00000577119.1_Silent_p.G184G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.G184G	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	184					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATCCCCAGCTCCCCAGCACTG	0.597000													12	59					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:37265141G>A	ENST00000233099.5	-	21	3168	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1025C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1025							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000													12	58					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337266	136337266	+	Silent	SNP	G	G	A	rs139167395		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:136337266G>A	ENST00000371899.4	-	10	1478	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.F405F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	467						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGCCGCGAAGAAGAAGAAAG	0.647000													9	61					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28075618	28075618	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:28075618C>T	ENST00000373954.6	+	6	654	c.552C>T	c.(550-552)atC>atT	p.I184I	FAM76A_ENST00000530324.1_Silent_p.I184I|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000234549.7_Intron|FAM76A_ENST00000010299.6_Silent_p.I218I|FAM76A_ENST00000373949.1_Intron	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	184										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGAAATCCCAAAGAAAA	0.358000													5	60					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334242	37334242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:37334242G>A	ENST00000262825.5	+	14	2627	c.2410G>A	c.(2410-2412)Gaa>Aaa	p.E804K	CSF2RB_ENST00000403662.3_Missense_Mutation_p.E798K|CSF2RB_ENST00000536485.1_Missense_Mutation_p.E745K|CSF2RB_ENST00000406230.1_Missense_Mutation_p.E804K	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	798					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GAACCCAGGGGAACGCCCGGC	0.657000													4	96					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926839	43926839	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:43926839G>A	ENST00000537548.1	-	8	1641	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MATN4_ENST00000372754.1_Missense_Mutation_p.S507L|MATN4_ENST00000342716.4_Missense_Mutation_p.S466L|MATN4_ENST00000372756.1_Missense_Mutation_p.S466L|MATN4_ENST00000372751.4_Missense_Mutation_p.S317L|MATN4_ENST00000360607.5_Missense_Mutation_p.S425L|MATN4_ENST00000372753.1_Missense_Mutation_p.S317L|MATN4_ENST00000353917.5_Missense_Mutation_p.S384L			O95460	MATN4_HUMAN	matrilin 4	507	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCCACACCGAGATGTCATC	0.672000													29	101					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525048	167525048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:167525048G>A	ENST00000295777.5	+	6	1329	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E300K|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	300					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGTGGAACAGGAAATTGATTT	0.338000													13	85					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60695878	60695878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:60695878G>A	ENST00000335712.6	-	3	703	c.476C>T	c.(475-477)cCg>cTg	p.P159L	BCL11A_ENST00000359629.5_Missense_Mutation_p.P159L|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.P7L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P159L|BCL11A_ENST00000358510.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	159	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AATACCCTGCGGGGCATATTC	0.458000			T	IGH@	B-CLL								6	56					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42950300	42950300	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:42950300C>T	ENST00000541208.1	+	3	419	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ZNF662_ENST00000440367.2_Missense_Mutation_p.P17L|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.P77L|ZNF662_ENST00000422021.1_Missense_Mutation_p.P17L			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTTCCATTTCCCAAACCGGCT	0.577000													62	268					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553113	19553113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:19553113C>T	ENST00000536433.1	-	1	3564	c.454G>A	c.(454-456)Gac>Aac	p.D152N	OSR1_ENST00000272223.2_Missense_Mutation_p.D152N			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	152					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TTGGTCACGTCGAGGAGGGCA	0.612000													7	57					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370254	97370254	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:97370254C>T	ENST00000457909.1	+	0	5502							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGTATCCTCCCATTAAAATA	0.458000													16	159					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75784010	75784010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:75784010G>A	ENST00000376911.1	+	11	1806	c.924G>A	c.(922-924)atG>atA	p.M308I	ANXA1_ENST00000257497.6_Missense_Mutation_p.M308I|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	308					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AAATTGACATGAATGATATCA	0.403000													54	144					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68379016	68379016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:68379016C>T	ENST00000545237.1	+	3	1144	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	PIAS1_ENST00000249636.6_Missense_Mutation_p.H133Y			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	133	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCACCCAGTCCATCCGGATAT	0.403000													4	79					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962492	129962492	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:129962492G>A	ENST00000222482.4	+	11	1270	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	CPA4_ENST00000493259.1_Silent_p.E310E|CPA4_ENST00000445470.2_Silent_p.E381E	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	414					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CCATCATGGAGCATGTGCGGG	0.532000													35	178					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121502739	121502739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:121502739C>T	ENST00000305949.1	+	13	1421	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	459					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCACATTTTTCTGGGGAGCAG	0.333000													9	51					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890456	23890456	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:23890456C>T	ENST00000532292.1	-	1	719	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGGGGTCTCTGAGGCAGCA	0.567000													30	67					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325798	158325798	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158325798C>T	ENST00000444681.2	+	3	803	c.510C>T	c.(508-510)ctC>ctT	p.L170L	CD1E_ENST00000368160.3_Silent_p.L269L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Silent_p.L269L|CD1E_ENST00000368166.3_Silent_p.L80L|CD1E_ENST00000434258.1_Silent_p.L267L|CD1E_ENST00000368165.3_Silent_p.L179L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Silent_p.L179L|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Silent_p.L80L|CD1E_ENST00000368157.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	269					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGGTATCTCCGAGCAACCC	0.617000													38	178					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103938	184103938	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:184103938C>T	ENST00000204604.1	+	15	2169	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.L601L|CHRD_ENST00000545352.1_Silent_p.L271L|CHRD_ENST00000450923.1_Silent_p.L641L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	641	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGGGAGCTCCGAGGGCAGG	0.632000													16	59					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816385	156816385	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156816385C>T	ENST00000347377.6	+	29	3827	c.3396C>T	c.(3394-3396)gcC>gcT	p.A1132A	CYFIP2_ENST00000541131.1_Silent_p.A1057A|CYFIP2_ENST00000522463.1_Silent_p.A936A|CYFIP2_ENST00000318218.6_Silent_p.A1157A|CYFIP2_ENST00000435847.2_Silent_p.A831A|CYFIP2_ENST00000377576.3_Silent_p.A1132A|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Silent_p.A1106A	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1157					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTGGAGCGCCATGCAGTTCG	0.622000													7	35					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717585	155717585	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:155717585C>T	ENST00000452804.2	+	7	853	c.792C>T	c.(790-792)ggC>ggT	p.G264G	MSTO1_ENST00000538143.1_3'UTR			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	237					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TGCACGATGGCTTCTCTGGGG	0.562000													6	47					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133473506	133473506	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:133473506C>T	ENST00000402696.3	+	4	978	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.L38F	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	165	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ACGTAAACCTCTTGAGAAAGG	0.567000													41	190					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480437	140480437	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140480437C>T	ENST00000231130.2	+	1	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		68	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTTGTGTCCAAAGGGAACA	0.512000													11	100					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794358	37794358	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:37794358G>A	ENST00000307599.4	-	6	742	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	215					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ccttgacagggaatatcaaaa	0.408000													4	22					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:57958276C>T	ENST00000455537.2	+	5	704	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R55C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000													26	105					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559080	210559080	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:210559080C>T	ENST00000360351.4	+	7	2692	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S725F|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	729					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCTCTGGCTTCCGATATTCTA	0.468000													20	168					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23699316	23699316	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:23699316T>A	ENST00000546136.1	-	11	1494	c.1492A>T	c.(1492-1494)Aaa>Taa	p.K498*	SOX5_ENST00000545921.1_Nonsense_Mutation_p.K501*|SOX5_ENST00000451604.2_Nonsense_Mutation_p.K511*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.K390*|SOX5_ENST00000396007.2_Nonsense_Mutation_p.K125*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.K498*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.K476*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.K390*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	511					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K511*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCATTCTGTTTAACTGCCAGT	0.313000													27	89					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17608469	17608469	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:17608469T>G	ENST00000259963.3	+	5	1196	c.1141T>G	c.(1141-1143)Ttt>Gtt	p.F381V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	381	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AATTGCTTCTTTTTTCCCTGC	0.348000													10	154					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113281570	113281570	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:113281570G>A	ENST00000362072.3	-	8	1555	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	DRD2_ENST00000346454.3_Missense_Mutation_p.P375L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.P406L|DRD2_ENST00000538967.1_Missense_Mutation_p.P406L|DRD2_ENST00000542968.1_Missense_Mutation_p.P404L|DRD2_ENST00000544518.1_Missense_Mutation_p.P403L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	404					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGACAGGCGGGATGTTGCA	0.562000													17	124					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551692	111551692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111551692G>A	ENST00000389811.4	+	5	510	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	ACOXL_ENST00000439055.1_Missense_Mutation_p.G96S|ACOXL_ENST00000340561.4_Missense_Mutation_p.G96S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	96					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GACCGAGAGGGGCCATGGGAG	0.552000													6	64					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110822001	110822001	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110822001C>T	ENST00000375820.4	-	43	3972	c.3851G>A	c.(3850-3852)gGa>gAa	p.G1284E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1284	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCAGGGTCTCCCTTGGGCCC	0.502000													10	78					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578292	141578292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:141578292G>A	ENST00000442267.2	-	13	2370	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	766						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTACCTCAGGGTAAGGTTCC	0.493000													23	68					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902417	206902417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:206902417C>T	ENST00000367103.3	+	3	650	c.457C>T	c.(457-459)Cga>Tga	p.R153*	MAPKAPK2_ENST00000294981.4_Nonsense_Mutation_p.R153*	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	153	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AATCCAGGATCGAGGAGACCA	0.577000													8	48					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11672	11672	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrM:11672A>C	ENST00000361381.2	+	1	913	c.913A>C	c.(913-915)Acc>Ccc	p.305_305insP						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TTCTCATCCAAACCCCCTGAA	0.478000													3	40					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000													27	56					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290531	75290531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:75290531G>A	ENST00000339859.4	-	12	1478	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	USP54_ENST00000319786.7_Missense_Mutation_p.R460C|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R310C|USP54_ENST00000408019.1_Missense_Mutation_p.R460C|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	460					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCCTCTTGCGCTCTATCAGT	0.502000													9	90					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112911	59112911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:59112911C>T	ENST00000395153.3	+	4	1606	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	DACT1_ENST00000556859.1_Missense_Mutation_p.P243S|DACT1_ENST00000395151.3_Missense_Mutation_p.P243S|DACT1_ENST00000335867.4_Missense_Mutation_p.P524S|DACT1_ENST00000541264.2_Missense_Mutation_p.P243S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	524					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCACTCCTCCCCTGCTGTC	0.602000													40	104					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848353	29848353	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:29848353G>C	ENST00000325874.8	+	5	962	c.733G>C	c.(733-735)Gac>Cac	p.D245H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.D143H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	245	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGTCTACTCGGACCTGGGGTC	0.567000													10	47					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136605704	136605704	+	Missense_Mutation	SNP	G	G	A	rs142938887		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:136605704G>A	ENST00000264156.2	-	14	2032	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	658					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTTCCACACGGATGATTGAT	0.393000													12	86					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324240	7324240	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7324240C>T	ENST00000323675.3	+	3	271	c.246C>T	c.(244-246)ccC>ccT	p.P82P	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	82					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AGACCCAGCCCCCTAAGAAGC	0.597000													20	121					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36107150	36107150	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:36107150G>A	ENST00000211287.4	+	12	1360	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Silent_p.*356*	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	0					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGAAGCTGTAGGGACTCATCT	0.537000													21	95					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488400	121488400	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:121488400C>T	ENST00000296600.4	+	2	1098	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	239						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCTTCCTATTCATGAGCCCAA	0.527000													17	102					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533446	70533446	+	Silent	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:70533446A>G	ENST00000260128.4	+	14	2271	c.1554A>G	c.(1552-1554)agA>agG	p.R518R	SULF1_ENST00000458141.2_Silent_p.R518R|SULF1_ENST00000402687.4_Silent_p.R518R|SULF1_ENST00000419716.3_Silent_p.R518R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	518					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGCCAAAGAAAGAGTCAAC	0.522000													4	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179481477C>T	ENST00000589042.1	-	256	48363	c.48139G>A	c.(48139-48141)Gaa>Aaa	p.E16047K	TTN_ENST00000342175.6_Missense_Mutation_p.E7174K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6982K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7107K|TTN_ENST00000591111.1_Missense_Mutation_p.E14406K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13479K|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14406	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAATTTCCCCAGAAATT	0.358000													19	139					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251231	140251231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:140251231G>A	ENST00000458420.3	+	9	1600	c.1410G>A	c.(1408-1410)atG>atA	p.M470I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	470					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTATACATGGATGGAGCAA	0.433000										HNSCC(16;0.037)			17	115					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28206666	28206666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:28206666G>A	ENST00000344423.5	-	9	1537	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	ZNF395_ENST00000523095.1_Missense_Mutation_p.P469L|ZNF395_ENST00000523202.1_Missense_Mutation_p.P469L	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	469					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCCCGGGGTGGAGAAGTGAC	0.652000													44	224					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596204	173596204	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:173596204C>T	ENST00000333279.2	-	4	651	c.591_splice	c.e4+1	p.K197_splice		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	213										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AATACAGTACCTTGTCTTCCT	0.358000													24	93					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:51900733G>A	ENST00000268919.4	+	1	495	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000													36	129					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162712	42162712	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:42162712C>T	ENST00000444063.1	+	11	1440	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	L3MBTL1_ENST00000373135.3_Silent_p.V436V|L3MBTL1_ENST00000373134.1_Silent_p.V436V|L3MBTL1_ENST00000418998.1_Silent_p.V504V|L3MBTL1_ENST00000427442.2_Silent_p.V504V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	436					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCTGCTGTCCCCACCTGGG	0.572000													28	94					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153796	4153796	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:4153796C>T	ENST00000404826.2	+	25	3852	c.3713C>T	c.(3712-3714)aCc>aTc	p.T1238I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1238I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1238	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGAATTCACCATCGAGGAG	0.632000													15	64					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768975	50768975	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:50768975G>A	ENST00000216923.4	-	6	2105	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	ZFP64_ENST00000371515.4_Missense_Mutation_p.L584F|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.L532F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGGGGATGAGAGTCTGGTGC	0.607000													17	96					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18235113	18235113	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:18235113C>T	ENST00000262811.5	+	9	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	265							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I287I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCAGCTTCATCGTCCAGCTTG	0.617000													4	25					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995023	18995023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:18995023G>A	ENST00000427170.2	-	3	534	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	CERS1_ENST00000429504.2_Nonsense_Mutation_p.Q155*|CERS1_ENST00000542296.2_Nonsense_Mutation_p.Q57*|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	155	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						AAGCTTCCCTGGAGCAGGTAG	0.602000													5	22					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800836	27800836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27800836G>A	ENST00000408964.2	+	1	1448	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	466										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAACCCCAGGACCACTGGGT	0.468000													12	85					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262982	140262982	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140262982C>T	ENST00000289272.2	+	1	1129	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R377C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTCCGATCGTGACTCTGG	0.507000													16	140					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892012	38892012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:38892012C>T	ENST00000302328.3	-	25	4485	c.4287G>A	c.(4285-4287)tgG>tgA	p.W1429*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.W1391*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.W1429*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.W1429*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1429					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAATAAATTCCAGCCATTGG	0.383000													24	134					0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139568309	139568309	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:139568309G>A	ENST00000371696.2	-	6	797	c.732C>T	c.(730-732)ctC>ctT	p.L244L	AGPAT2_ENST00000371694.3_Silent_p.L212L|AGPAT2_ENST00000538402.1_Silent_p.L244L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	244					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGGTGTCCACGAGCGCAGGGA	0.682000													8	14					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154197657	154197657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:154197657C>T	ENST00000428931.1	+	2	225	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q20*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q20*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q20*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	20					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTCAAAACCAAAACCAGAC	0.453000													14	74					0	0	1	0	0
MIR1323	100302255	broad.mit.edu	37	19	54175230	54175230	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54175230C>T	ENST00000408090.1	+	0	9					NR_031568.1																						AGACTGAGGTCCTCAAAACTG	0.488000													29	141					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871721	62871721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62871721G>A	ENST00000536311.1	+	23	3731	c.3367G>A	c.(3367-3369)Gac>Aac	p.D1123N	MYT1_ENST00000328439.1_Missense_Mutation_p.D1096N			Q01538	MYT1_HUMAN	myelin transcription factor 1	1096					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCTCACCGACATGTACTC	0.562000													9	68					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2991877	2991877	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:2991877C>T	ENST00000246112.4	+	14	1482	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	TLE6_ENST00000452088.1_Silent_p.I304I	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	304					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGAGTATCGTGGTCAAGG	0.557000													7	67					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823438	97823438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:97823438C>T	ENST00000297293.5	+	11	3954	c.3661C>T	c.(3661-3663)Cgc>Tgc	p.R1221C		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1221					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACAGGACGATCGCCCCTGCAC	0.617000													11	44					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941042	52941042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52941042G>A	ENST00000332323.6	+	4	429	c.368G>A	c.(367-369)gGa>gAa	p.G123E	ZNF534_ENST00000433050.1_Missense_Mutation_p.G110E|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G123V(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATCAACATGGATTAACTCTT	0.358000													8	34					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104182	62104182	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:62104182C>T	ENST00000551449.1	-	3	301	c.123G>A	c.(121-123)caG>caA	p.Q41Q	FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000551619.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTGATTTCTCCTGGGTTAATG	0.328000													23	166					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042492	40042492	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40042492A>T	ENST00000352035.2	-	18	2075	c.1945T>A	c.(1945-1947)Tcc>Acc	p.S649T	ACLY_ENST00000537919.1_Missense_Mutation_p.S378T|ACLY_ENST00000590151.1_Missense_Mutation_p.S649T|ACLY_ENST00000393896.2_Missense_Mutation_p.S639T|ACLY_ENST00000353196.1_Missense_Mutation_p.S639T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	649					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACAGTTTGGAGGCCAGGATG	0.562000													16	57					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086610	100086610	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100086610G>A	ENST00000423930.1	+	4	1425	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	NYAP1_ENST00000454988.1_Silent_p.R365R|NYAP1_ENST00000300179.2_Silent_p.R422R			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	422	Pro-rich.																GGGGGGAGCGGGAGCTCCCCA	0.756000													3	3					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892707	72892707	+	Missense_Mutation	SNP	G	G	A	rs147580745		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:72892707G>A	ENST00000339594.4	-	7	1422	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P362S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	362	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.P362S(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGTTCTTCAGGAGATTTGGAA	0.418000													6	41					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061500	71061500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:71061500C>T	ENST00000321489.5	-	20	3197	c.3047G>A	c.(3046-3048)aGg>aAg	p.R1016K	HYDIN_ENST00000448691.1_Missense_Mutation_p.R1016K|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron	NM_017558.3	NP_060028.2	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGCTATCCCCTTACCCTGGG	0.458000													6	59					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599802	116599802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:116599802G>A	ENST00000410059.1	+	26	2752	c.2272G>A	c.(2272-2274)Ggt>Agt	p.G758S	DPP10_ENST00000393147.2_Missense_Mutation_p.G762S|DPP10_ENST00000409163.1_Missense_Mutation_p.G708S|DPP10_ENST00000310323.8_Missense_Mutation_p.G751S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	758					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCCAGATGAAGGTCATAACGT	0.393000													6	40					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802688	185802688	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:185802688G>A	ENST00000302277.6	+	4	3159	c.2565G>A	c.(2563-2565)gaG>gaA	p.E855E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	855						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAAAAAAGAGAAAATGAAAC	0.333000													3	34					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:20683155C>T	ENST00000404938.2	+	7	1230	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000													21	101					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902822	22902822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:22902822G>A	ENST00000166244.3	+	3	344	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.R91Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R91Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	91						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGGTCCCCCGAGACGGCGCC	0.612000													12	72					0	0	1	0	0
MIR498	574460	broad.mit.edu	37	19	54177462	54177462	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54177462G>A	ENST00000385134.1	+	0	12					NR_030182.1																						ACCCTCCTTGGGAAGTGAAGC	0.478000													10	121					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27325067	27325067	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27325067G>A	ENST00000402394.1	-	5	508	c.240C>T	c.(238-240)ctC>ctT	p.L80L	CGREF1_ENST00000405600.1_Silent_p.L80L|CGREF1_ENST00000404694.3_Silent_p.L202L|CGREF1_ENST00000312734.4_Silent_p.L80L|CGREF1_ENST00000452318.2_5'UTR|CGREF1_ENST00000402550.1_Silent_p.L80L|CGREF1_ENST00000260595.5_Silent_p.L80L	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	80	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAGTCATGGAGGGCAAAGA	0.577000													5	26					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2906795	2906795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:2906795C>T	ENST00000398125.1	+	10	1654	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	ADD1_ENST00000398123.2_Missense_Mutation_p.S489L|ADD1_ENST00000503455.2_Missense_Mutation_p.S489L|ADD1_ENST00000446856.1_Intron|ADD1_ENST00000513328.2_Intron|ADD1_ENST00000264758.7_Missense_Mutation_p.S489L|ADD1_ENST00000355842.3_Intron|ADD1_ENST00000398129.1_Intron	NM_014190.3|NM_176801.2	NP_054909.2|NP_789771.1	P35611	ADDA_HUMAN	adducin 1 (alpha)	471					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTCTCTCTCGTCCGGTGTC	0.522000													20	74					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318781	9318781	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:9318781C>T	ENST00000261336.2	-	18	2153	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	PZP_ENST00000381997.2_Missense_Mutation_p.E578K|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TATGGTCTCTCTACTACTCCT	0.378000													11	44					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464369	127464369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:127464369G>A	ENST00000368808.3	-	1	21	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	8					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGTGTCGGACGGAAGATGGAG	0.667000													21	71					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120837921	120837921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:120837921G>A	ENST00000527524.2	+	19	2571	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E762K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	762					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTTCCGGGACGAGTTTGATCT	0.592000													7	55					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081467	54081467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:54081467G>A	ENST00000394705.2	-	2	697	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	143						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCCGGAGCCGGTGCAGGGCG	0.562000													11	132					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786653	160786653	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160786653G>A	ENST00000263285.5	+	5	1372	c.1342_splice	c.e5+1	p.G448_splice	LY9_ENST00000368041.2_Intron|LY9_ENST00000368035.1_Splice_Site_p.G100_splice|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Splice_Site_p.G100_splice	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	448	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTGTTCAGGTTTCTCTCC	0.493000													13	91					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833296	44833296	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:44833296G>A	ENST00000354340.4	-	4	1065	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	ZNF112_ENST00000536500.1_Silent_p.S361S|ZNF112_ENST00000337401.4_Silent_p.S344S	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGTTAAGAGGGGAACAGTGAT	0.378000													7	75					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272677	52272677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52272677C>T	ENST00000598776.1	+	2	1538	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	FPR2_ENST00000598953.1_Missense_Mutation_p.P256S|FPR2_ENST00000340023.6_Missense_Mutation_p.P256S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P256S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGTTGGTTTCCCTTTCAACT	0.488000													4	36					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167054	6167054	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:6167054T>C	ENST00000261405.5	-	14	1944	c.1690A>G	c.(1690-1692)Aag>Gag	p.K564E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	564	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGTGCTGCTTCTGCAGGTCC	0.657000													36	171					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	G	A	rs142884324	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:184008046G>A	ENST00000402825.3	+	14	1909	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E519K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000													4	21					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101746874	101746874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:101746874G>A	ENST00000261637.4	+	40	5248	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1692					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAACTCTTGAAGAACAAAT	0.264000													5	64					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804803	54804803	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:54804803T>A	ENST00000306858.7	+	5	1150	c.1034T>A	c.(1033-1035)tTa>tAa	p.L345*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	345										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATATATACTTTAAATGAACAT	0.343000													10	66					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44706363	44706363	+	Missense_Mutation	SNP	C	C	T	rs140413676		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:44706363C>T	ENST00000439616.2	+	3	360	c.251C>T	c.(250-252)tCg>tTg	p.S84L	OGDH_ENST00000444676.1_Silent_p.L197L|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000443864.2_Silent_p.L182L|OGDH_ENST00000449767.1_Silent_p.L178L|OGDH_ENST00000447398.1_Silent_p.L193L|OGDH_ENST00000222673.5_Silent_p.L182L|OGDH_ENST00000543843.1_Silent_p.L133L			Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	81					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTCTGACCTCGACAAGGTCT	0.577000													29	139					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35579932	35579932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:35579932G>A	ENST00000262878.4	-	1	314	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	39					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TAGTCGGGATGGAGTTCCAGG	0.637000													52	278					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945927	150945927	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:150945927G>A	ENST00000261800.5	-	1	2578	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	856	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGTGTAGCGAACCCTGCCA	0.542000													8	67					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842311	32842311	+	Silent	SNP	T	T	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32842311T>A	ENST00000341071.7	-	9	770	c.759A>T	c.(757-759)ccA>ccT	p.P253P	BSDC1_ENST00000526031.1_Silent_p.P141P|BSDC1_ENST00000413080.1_Silent_p.P175P|BSDC1_ENST00000419121.2_Silent_p.P180P|BSDC1_ENST00000446293.2_Silent_p.P253P|BSDC1_ENST00000455895.2_Silent_p.P236P|BSDC1_ENST00000449308.1_Silent_p.P236P			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	236							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTGCCTCTTTTGGAGATATGG	0.512000													16	35					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507963	51507963	+	Silent	SNP	C	C	T	rs141974163		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:51507963C>T	ENST00000396402.1	-	7	948	c.795G>A	c.(793-795)agG>agA	p.R265R	CYP19A1_ENST00000559878.1_Silent_p.R265R|CYP19A1_ENST00000260433.2_Silent_p.R265R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.R265R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	265					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTGTGGAAATCCTGCGTCTTT	0.373000													13	112					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254283	98254283	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:98254283C>T	ENST00000265634.3	+	3	858	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	231	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTCCCACTCCGCACAAACT	0.592000													42	281					0	0	1	0	0
BCL7B	9275	broad.mit.edu	37	7	72966521	72966521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:72966521C>T	ENST00000223368.2	-	2	567	c.144G>A	c.(142-144)tgG>tgA	p.W48*	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Nonsense_Mutation_p.W48*	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	48							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGAACCCACTTAAATA	0.368000													22	114					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407152	38407152	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:38407152C>T	ENST00000322350.5	+	8	1397	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	EGFLAM_ENST00000336740.6_Missense_Mutation_p.L117F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L351F|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGATGAAACTCTCTGCTCTGC	0.552000													8	72					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45014813	45014813	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:45014813C>A	ENST00000372176.1	-	9	831	c.363G>T	c.(361-363)caG>caT	p.Q121H	ELMO2_ENST00000352077.2_Missense_Mutation_p.Q207H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q209H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q26H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q209H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000290246.6_Missense_Mutation_p.Q209H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	209					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CGGCTATCTTCTGGTACAGAC	0.532000													17	123					1.56452e-12	1.59007e-12	1	1	0
RNF6	6049	broad.mit.edu	37	13	26788126	26788126	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:26788126G>A	ENST00000381588.4	-	5	2645	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	RNF6_ENST00000399762.2_Silent_p.I275I|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Silent_p.I631I|RNF6_ENST00000381570.3_Silent_p.I631I	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	631	Required for polyubiquitination (By similarity).				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACACTACAGATTTTACCTA	0.383000													11	132					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696750	48696750	+	Silent	SNP	G	G	A	rs149132560	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:48696750G>A	ENST00000544264.1	-	1	3598	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	CELSR3_ENST00000164024.4_Silent_p.I1106I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1106	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.I1106I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCCTCCACGATCTGGTACA	0.522000													24	94					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985141	64985141	+	RNA	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:64985141C>T	ENST00000525437.1	+	0	654							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCATCATCCTCAACTCCG	0.647000													20	51					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60788641	60788641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:60788641C>T	ENST00000544856.2	-	10	2654	c.2276G>A	c.(2275-2277)aGg>aAg	p.R759K	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R798K|MARCH10_ENST00000311269.5_Missense_Mutation_p.R760K|MARCH10_ENST00000456609.2_Missense_Mutation_p.R760K|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	760							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTCTGCAAACCTCTGCTCATA	0.507000													8	136					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262025	140262025	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140262025G>A	ENST00000289272.2	+	1	172	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E58K|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGCGGAGCTGGTGCC	0.607000													9	89					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640478	34640478	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:34640478C>T	ENST00000537011.1	+	3	791	c.409C>T	c.(409-411)Ctt>Ttt	p.L137F	NUTM1_ENST00000438749.3_Missense_Mutation_p.L127F|NUTM1_ENST00000333756.4_Missense_Mutation_p.L109F					NUT midline carcinoma, family member 1																		GAACTTTATCCTTACTCAGAC	0.562000													11	81					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325744	99325744	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:99325744G>A	ENST00000408927.3	+	7	867	c.754G>A	c.(754-756)Gca>Aca	p.A252T	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A253T|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A203T|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A204T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A161T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A253T	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	252							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGCTCCATTGGCAGAAAATGG	0.323000			T	NUP98	T-ALL								5	61					0	0	1	0	0
SOX1	6656	broad.mit.edu	37	13	112722185	112722185	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:112722185G>A	ENST00000330949.1	+	1	273	c.213G>A	c.(211-213)caG>caA	p.Q71Q		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	71					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		AGATGGCCCAGGAGAACCCCA	0.682000													7	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542492	179542492	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179542492C>T	ENST00000589042.1	-	146	34371	c.34147G>A	c.(34147-34149)Gaa>Aaa	p.E11383K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11066K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10139K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11066	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCTTCA	0.423000													14	114					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40770557	40770557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:40770557G>A	ENST00000373198.3	-	19	3069	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	PTPRT_ENST00000373190.1_Missense_Mutation_p.S922F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S926F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S932F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S913F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S913F|PTPRT_ENST00000373187.1_Missense_Mutation_p.S923F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	923	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCACCTACAGGATATGATGTT	0.453000													40	211					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40034558	40034558	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:40034558G>A	ENST00000372857.3	-	6	1584	c.792C>T	c.(790-792)ggC>ggT	p.G264G	PABPC4_ENST00000372858.3_Silent_p.G264G|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Silent_p.G264G|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Silent_p.G264G	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	264	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGTGCACGGCCTACAAATA	0.393000													15	145					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13336470	13336470	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:13336470G>A	ENST00000396920.3	-	4	719	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PHYH_ENST00000396913.2_Silent_p.F24F|PHYH_ENST00000263038.4_Silent_p.F124F			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	124					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TATCTTCCTGGAAATCCTGGA	0.468000													12	78					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558805	1558805	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:1558805C>T	ENST00000357210.4	+	3	363	c.147C>T	c.(145-147)gcC>gcT	p.A49A	MIB2_ENST00000504599.1_Silent_p.A5A|MIB2_ENST00000520777.1_Silent_p.A106A|MIB2_ENST00000518681.1_Silent_p.A106A|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000360522.4_Silent_p.A49A|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378710.3_Silent_p.A49A|MIB2_ENST00000505820.2_Silent_p.A106A	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	49					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCCCTCTGCCCACAGGTCCC	0.716000													7	13					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19467963	19467963	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:19467963G>A	ENST00000375267.2	-	57	8369	c.8366C>T	c.(8365-8367)cCc>cTc	p.P2789L	UBR4_ENST00000375226.2_Missense_Mutation_p.P2800L|UBR4_ENST00000375254.3_Missense_Mutation_p.P2789L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2817L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2789					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCCTCCAGGGGAGAGGGGTT	0.567000													7	78					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595578	55595578	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55595578A>G	ENST00000378397.1	+	1	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGAGAAATAAGGATGTGAAC	0.463000										HNSCC(27;0.073)			9	47					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399072	57399072	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:57399072G>A	ENST00000543257.1	-	11	1898	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	C8B_ENST00000535057.1_Silent_p.F434F|C8B_ENST00000371237.4_Silent_p.F496F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	496	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTCCTTCTGGAACTCCTCCA	0.532000													4	72					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086894	92086894	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:92086894C>T	ENST00000298047.6	+	1	1633	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	FAT3_ENST00000525166.1_Missense_Mutation_p.S389F|FAT3_ENST00000409404.2_Missense_Mutation_p.S539F|FAT3_ENST00000541502.1_Missense_Mutation_p.S539F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	539	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGAATCCTCCCCAGAAATT	0.393000										TCGA Ovarian(4;0.039)			16	92					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086301	55086301	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55086301C>T	ENST00000251377.3	+	5	589	c.456C>T	c.(454-456)ttC>ttT	p.F152F	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.F152F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.F152F|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.F140F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TTGACGGCTTCATTCTGTGTA	0.587000													31	133					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:197404357G>A	ENST00000367397.1	+	5	2365	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CRB1_ENST00000367400.3_Missense_Mutation_p.E1122K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1010K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E603K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1098K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1122	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000													17	95					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350520	115350520	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:115350520C>T	ENST00000369358.4	-	40	5041	c.4797G>A	c.(4795-4797)aaG>aaA	p.K1599K	NRAP_ENST00000369360.3_Silent_p.K1564K|NRAP_ENST00000360478.3_Silent_p.K1556K|NRAP_ENST00000359988.3_Silent_p.K1591K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1591						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCAAAGTCCTTCTTGTACT	0.572000													29	114					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79205669	79205669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79205669C>T	ENST00000374769.2	-	9	904	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ENTHD2_ENST00000300714.3_Missense_Mutation_p.E227K|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA					ENTH domain containing 2																		TCACCCGGCTCCCGGCTGGCC	0.662000													7	116					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33470070	33470070	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:33470070G>A	ENST00000379471.2	-	4	585	c.498C>T	c.(496-498)taC>taT	p.Y166Y	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	166					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGCCCAGAAGGTAGCTGCCCA	0.607000													9	56					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161281227	161281227	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161281227G>A	ENST00000428797.2	+	4	493	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GABRA1_ENST00000420560.1_Silent_p.L46L|GABRA1_ENST00000023897.6_Silent_p.L46L|GABRA1_ENST00000444819.1_Silent_p.L46L|GABRA1_ENST00000437025.2_Silent_p.L46L|GABRA1_ENST00000393943.4_Silent_p.L46L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGGATTTTGGACAGACTCC	0.363000													12	102					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57147363	57147363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:57147363C>T	ENST00000535318.2	+	4	705	c.344C>T	c.(343-345)tCc>tTc	p.S115F	CPNE2_ENST00000565874.1_Missense_Mutation_p.S115F|CPNE2_ENST00000290776.8_Missense_Mutation_p.S115F|CPNE2_ENST00000537605.1_Missense_Mutation_p.S13F			Q96FN4	CPNE2_HUMAN	copine II	115	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCCAGTTCTCCTGCAGCCTG	0.597000													13	31					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264287	99264287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:99264287C>T	ENST00000343703.5	-	7	814	c.428G>A	c.(427-429)gGa>gAa	p.G143E	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.G153E					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CAATACATCTCCATACTGGGC	0.478000													23	149					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14610325	14610325	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:14610325G>A	ENST00000274217.3	+	8	1093	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	325										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TAACTCCAGAGACTTTGAAGT	0.458000													11	76					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716029	101716029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:101716029G>A	ENST00000342239.3	-	4	1293	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P401L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	401					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTCAGATGTGGGAGAGTCTGT	0.517000													24	98					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482077	17482077	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:17482077G>A	ENST00000302539.4	-	6	1094	c.969C>T	c.(967-969)atC>atT	p.I323I	ABCC8_ENST00000389817.3_Silent_p.I323I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	323	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTGGTCCACGATCCCAAAGA	0.602000													19	151					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339612	13339612	+	RNA	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:13339612G>A	ENST00000602906.1	+	0	963																				kidney(3)|lung(1)	4						AGCAAGTATGGAAGCGGGACT	0.483000													6	29					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336578	39336578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39336578G>A	ENST00000221419.5	-	3	905	c.539C>T	c.(538-540)tCc>tTc	p.S180F	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S47F	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	180					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCAGGGCGGGAGATCTTCTG	0.542000													20	189					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53774333	53774333	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:53774333C>T	ENST00000288139.3	+	22	2956	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F	CACNA1D_ENST00000422281.2_Silent_p.F926F|CACNA1D_ENST00000350061.5_Silent_p.F926F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	926					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATGCCTTCACAGCCATCT	0.423000													37	160					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337405	19337405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19337405G>A	ENST00000252575.5	+	7	1226	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	395					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCCACCCTGGAGGAGGAAGA	0.577000													5	34					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906414	71906414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:71906414G>A	ENST00000393679.1	+	3	704	c.268G>A	c.(268-270)Gga>Aga	p.G90R	FOLR1_ENST00000393676.3_Missense_Mutation_p.G90R|FOLR1_ENST00000393681.2_Missense_Mutation_p.G90R|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.G90R			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	90					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GAACCACTGTGGAGAGATGGC	0.547000													52	301					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552700	18552700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18552700G>A	ENST00000433979.1	+	15	2227	c.2111G>A	c.(2110-2112)aGg>aAg	p.R704K	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R704K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R745K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	704					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGGATGAAAGGACTGTTTCA	0.398000													16	52					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071617	132071617	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:132071617C>T	ENST00000336375.5	+	9	1008	c.918C>T	c.(916-918)ctC>ctT	p.L306L	ACPP_ENST00000351273.7_Silent_p.L306L|ACPP_ENST00000475741.1_Silent_p.L273L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	306						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACAACGGACTCCTTCCTCCCT	0.433000													19	102					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062196	216062196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:216062196G>A	ENST00000366943.2	-	41	8181	c.7795C>T	c.(7795-7797)Cag>Tag	p.Q2599*	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q2599*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2599	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTCTACCTGAAACTTATAG	0.463000										HNSCC(13;0.011)			22	103					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735658	162735658	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:162735658G>A	ENST00000375514.5	+	9	1196	c.909G>A	c.(907-909)atG>atA	p.M303I	SLC4A10_ENST00000421911.1_Missense_Mutation_p.M322I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M292I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M292I|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M322I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.M322I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	322					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCATTTTATGAAAAAGATTC	0.398000													4	51					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096875	143096875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143096875G>A	ENST00000275815.3	-	4	790	c.704C>T	c.(703-705)gCg>gTg	p.A235V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	235	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTGGCCCGCGCGTGGGGCAA	0.677000													5	18					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43656349	43656349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:43656349G>A	ENST00000396976.2	-	4	1588	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P484L|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTCAAAGAAGGGACAGGTCTC	0.532000													13	114					0	0	1	0	0
PRRT1	80863	broad.mit.edu	37	6	32119658	32119658	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:32119658C>T	ENST00000375150.2	-	3	211	c.27G>A	c.(25-27)ccG>ccA	p.P9P	PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Silent_p.P9P			Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	92					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTCCTCGGCCGGTGCTGGAG	0.677000													26	59					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:49042449C>T	ENST00000358295.5	+	2	307	c.132C>T	c.(130-132)gaC>gaT	p.D44D	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Silent_p.D51D	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	51						extracellular region|integral to membrane		p.D44D(1)|p.D51D(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGACCTTGGACCGGGACAGCA	0.677000													5	64					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594258	136594258	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:136594258G>A	ENST00000264162.2	-	1	492	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	161	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCCCCGAAGGAGTGGAAGGC	0.572000													8	59					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680711	73680711	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:73680711T>C	ENST00000264448.6	+	8	7165	c.7054T>C	c.(7054-7056)Ttt>Ctt	p.F2352L	ALMS1_ENST00000377715.1_Missense_Mutation_p.F2352L|ALMS1_ENST00000409009.1_Missense_Mutation_p.F2310L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2352					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGGGAGTTTATTAGTTC	0.433000													7	54					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27333070	27333070	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:27333070G>A	ENST00000429845.2	-	18	1743	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	NEK10_ENST00000341435.5_Missense_Mutation_p.P461S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	461							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGTCTGTGGGGAAAAGTCTA	0.358000													5	33					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12854889	12854889	+	Splice_Site	SNP	T	T	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:12854889T>C	ENST00000456430.2	+	7	1047		c.e7+2		CAND2_ENST00000295989.5_Splice_Site	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGAGCAAGGTTGGTGGACAG	0.527000													14	54					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051896	140051896	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140051896G>A	ENST00000326232.9	-	8	872	c.669C>T	c.(667-669)atC>atT	p.I223I	SLC37A3_ENST00000340308.3_Silent_p.I223I|SLC37A3_ENST00000447932.2_Silent_p.I223I|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	223					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTCCAAAGAAGATAACGATCC	0.507000													3	32					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:89720741C>T	ENST00000371953.3	+	8	2249	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			14	40					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147360	77147360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:77147360C>T	ENST00000461745.1	+	2	1157	c.257C>T	c.(256-258)cCc>cTc	p.P86L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P86L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P102L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	86	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGCTTCTGCCCAGCGGATCC	0.567000													17	59					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22194146	22194146	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:22194146G>A	ENST00000344041.6	-	17	1566	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	RAPGEF5_ENST00000401957.2_Silent_p.I268I	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	268	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CGACTTTTAGGATCTCTTGGG	0.428000													19	53					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098601	155098601	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:155098601C>T	ENST00000392825.3	+	5	937	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.H124Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	124	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATTGTGTTTCATAATGAAGC	0.383000													5	70					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599072	151599072	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151599072C>T	ENST00000362032.4	+	3	846	c.741C>T	c.(739-741)ccC>ccT	p.P247P	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	247						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTTTTACACCCTATCACGTCA	0.488000													41	264					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170630	41170630	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:41170630C>T	ENST00000355653.3	-	2	669	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	VAT1_ENST00000587173.1_Missense_Mutation_p.V124I|VAT1_ENST00000420567.3_Missense_Mutation_p.V58I	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	192						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTACCAAGACGCTGTGGCCA	0.557000													8	44					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56879416	56879416	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:56879416G>A	ENST00000520220.2	+	9	1144	c.870G>A	c.(868-870)agG>agA	p.R290R	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Silent_p.R311R	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	311	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGTCACCAGGGAGGAGCCCA	0.522000													13	89					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43022827	43022827	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:43022827C>T	ENST00000356231.3	-	14	2166	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	715						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTGAAGATGTCCCGGTAATAT	0.587000													4	69					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863665	55863665	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:55863665C>T	ENST00000388975.3	-	10	1356	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	414					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGCAGTGCTTCGGAGGCAGCT	0.378000													14	81					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496088	56496088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:56496088G>A	ENST00000370754.5	-	29	3963	c.3964C>T	c.(3964-3966)Cct>Tct	p.P1322S	DST_ENST00000312431.6_Missense_Mutation_p.P1144S|DST_ENST00000370769.4_Missense_Mutation_p.P1144S|DST_ENST00000370788.2_Missense_Mutation_p.P1144S|DST_ENST00000361203.3_Missense_Mutation_p.P1144S|DST_ENST00000518935.1_Missense_Mutation_p.P818S|DST_ENST00000421834.2_Missense_Mutation_p.P1144S|DST_ENST00000446842.2_Missense_Mutation_p.P818S|DST_ENST00000370765.6_Missense_Mutation_p.P818S|DST_ENST00000244364.6_Missense_Mutation_p.P818S			Q03001	DYST_HUMAN	dystonin	1144					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGTAGGGTAGGGACTGATGAA	0.393000													14	62					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737028	18737028	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18737028C>T	ENST00000513874.1	-	11	1621	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	494	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGTCTCCATCCTGCATGGCCA	0.547000													10	177					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117131389	117131389	+	Silent	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:117131389C>A	ENST00000369486.3	-	8	3132	c.2367G>T	c.(2365-2367)ctG>ctT	p.L789L	IGSF3_ENST00000318837.6_Silent_p.L809L|IGSF3_ENST00000369483.1_Silent_p.L809L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	789	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTTGGGGCTCAGCAGCCACT	0.627000													9	40					6.81908e-15	6.94174e-15	1	1	0
RPS4Y2	140032	broad.mit.edu	37	Y	22942837	22942837	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrY:22942837C>T	ENST00000288666.5	+	7	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	237					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CTTGGATTTCCCTGCCCAGGG	0.438000													20	38					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278223	7278223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:7278223C>A	ENST00000436587.2	+	3	781	c.558C>A	c.(556-558)taC>taA	p.Y186*	C1GALT1_ENST00000223122.2_Nonsense_Mutation_p.Y186*|C1GALT1_ENST00000402468.3_Nonsense_Mutation_p.Y186*	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	186					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTTCAAAATACGACCCTGAAG	0.388000													13	51					0.000151284	0.000152386	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34003873	34003873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:34003873G>A	ENST00000382491.3	-	28	4137	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1385F|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1424F	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1385	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATTTTCCTGGGATTGACTCCG	0.448000													6	34					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28783309	28783309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:28783309C>T	ENST00000225719.4	+	16	3449	c.3373C>T	c.(3373-3375)Ctt>Ttt	p.L1125F	CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.L878F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1125	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTGGCATCTCTTTATGCAAA	0.363000													12	65					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233715038	233715038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:233715038C>T	ENST00000373566.3	+	29	4014	c.3817C>T	c.(3817-3819)Caa>Taa	p.Q1273*	GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1251*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1272*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1251*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1245*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1273*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1251					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGCAACAACCAACAATCCAA	0.453000													11	115					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724110	30724110	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:30724110C>A	ENST00000262518.4	+	14	2489	c.2104C>A	c.(2104-2106)Cag>Aag	p.Q702K	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q702K|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q702K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	702	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTATGGAGCCCAGAAAGAGAG	0.468000													7	94					0.00448238	0.00450773	1	1	0
ASGR2	433	broad.mit.edu	37	17	7010600	7010600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7010600G>A	ENST00000380952.2	-	6	725	c.461C>T	c.(460-462)cCc>cTc	p.P154L	ASGR2_ENST00000254850.7_Missense_Mutation_p.P130L|ASGR2_ENST00000446679.2_Missense_Mutation_p.P135L|ASGR2_ENST00000355035.5_Missense_Mutation_p.P154L	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	154					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CAGGTCCACGGGGAAGTGCTT	0.652000													6	49					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494336	157494336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:157494336G>A	ENST00000361835.3	-	10	2129	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	FCRL5_ENST00000368190.3_Missense_Mutation_p.R658C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R573C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R658C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	658						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATGGGACGAGATACTGGA	0.502000													12	63					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217395	150217395	+	Silent	SNP	C	C	T	rs144054418		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150217395C>T	ENST00000313543.4	+	2	490	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	111							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGAAAACCGTTGCATTGA	0.537000													22	60					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581139	56581139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:56581139G>A	ENST00000323456.5	-	15	1901	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	MTMR4_ENST00000579925.1_Nonsense_Mutation_p.Q536*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	593						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGGCTCTGGGCCACTGGG	0.527000													19	134					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119535	1119535	+	Silent	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:1119535G>A	ENST00000361757.3	-	13	1590	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SBNO2_ENST00000587024.1_Silent_p.F451F|SBNO2_ENST00000438103.2_Silent_p.F394F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	451					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGTGCAGGAACTCCTCAA	0.647000													3	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587534	179587534	+	Silent	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179587534C>T	ENST00000589042.1	-	76	22316	c.22092G>A	c.(22090-22092)cgG>cgA	p.R7364R	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.R7047R|TTN_ENST00000342992.6_Silent_p.R6120R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7047	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGTTGGCCGTAATTTGG	0.428000													5	38					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9876553	9876553	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9876553G>A	ENST00000547186.1	+	12	2101	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.D772N|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.D417N	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	629					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACCGAACCTTGATTTCAAGGT	0.597000													25	90					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978256	10978256	+	Silent	SNP	T	T	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:10978256T>G	ENST00000240619.2	-	1	701	c.613A>C	c.(613-615)Agg>Cgg	p.R205R		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	205					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGCATCTGCCTGTTGTGTCTC	0.348000													27	119					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203396	155203396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155203396C>T	ENST00000460012.1	-	22	2990	c.2633G>A	c.(2632-2634)aGa>aAa	p.R878K	PLCH1_ENST00000447496.2_Missense_Mutation_p.R916K|PLCH1_ENST00000414191.1_Missense_Mutation_p.R878K|PLCH1_ENST00000340059.7_Missense_Mutation_p.R916K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R878K|PLCH1_ENST00000494598.1_Missense_Mutation_p.R896K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	916					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCGCAGAATTCTATCTCCAAT	0.478000													10	51					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483806	41483808	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:41483806_41483808delTCC	ENST00000359345.1	-	2	3032_3034	c.456_458delGGA	c.(454-459)gac>ga	p.ED152del	SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	152							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626													3	4	---	---	---	---					
LOC101929567	101929567	broad.mit.edu	37	2	8715849	8715849	+	RNA	DEL	C	C	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:8715849delC	ENST00000454224.1	-	0	586																											CCCACCCCCGCCCCCGGGAAC	0.582													2	4	---	---	---	---					
TP53I3	9540	broad.mit.edu	37	2	24303690	24303690	+	Splice_Site	DEL	T	T	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:24303690delT	ENST00000238721.4	-	3	1472	c.619_splice	c.e3+1	p.K206_splice	TP53I3_ENST00000407482.1_Splice_Site_p.K206_splice|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Splice_Site_p.K206_splice|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000313482.4_Splice_Site_p.K206_splice	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	206					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGTTTACCTTTGGTGAATT	0.418													33	285	---	---	---	---					
GABRA1	2554	broad.mit.edu	37	5	161324335	161324336	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161324335_161324336insT	ENST00000428797.2	+	11	1633_1634	c.1278_1279insT	c.(1276-1281)gctcccfs	p.P427fs	GABRA1_ENST00000393943.4_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000420560.1_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000023897.6_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000437025.2_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000444819.1_Frame_Shift_Ins_p.P427fs	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	427					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAGAATAGCCTTCCCGCTGCT	0.426													15	182	---	---	---	---					
TFEB	7942	broad.mit.edu	37	6	41658830	41658832	+	In_Frame_Del	DEL	TGC	TGC	-	rs150746914	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:41658830_41658832delTGC	ENST00000394283.1	-	2	1346_1348	c.120_122delGCA	c.(118-123)caa>ca	p.QQ42del	TFEB_ENST00000373033.1_In_Frame_Del_p.QQ42del|TFEB_ENST00000358871.2_In_Frame_Del_p.QQ56del|TFEB_ENST00000403298.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000230323.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000420312.1_In_Frame_Del_p.QQ42del			P19484	TFEB_HUMAN	transcription factor EB	42	Gln-rich.|Poly-Gln.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q44delQ(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ctgctgctgttgctgctgctgct	0.650			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	8	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													4	5	---	---	---	---					
CHRAC1	54108	broad.mit.edu	37	8	141525279	141525280	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:141525279_141525280delAA	ENST00000220913.5	+	3	531_532	c.329_330delAA	c.(328-330)gfs	p.E110fs	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	110					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTAAAGAGGAAAAGAGGGAAG	0.356													22	93	---	---	---	---					
ZNF438	220929	broad.mit.edu	37	10	31137605	31137608	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:31137605_31137608delCAAA	ENST00000538351.1	-	7	2333_2336	c.1579_1582delTTTG	c.(1579-1584)gcfs	p.FG527fs	ZNF438_ENST00000375311.1_Frame_Shift_Del_p.FG140fs|ZNF438_ENST00000361310.3_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000331737.6_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000444692.2_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000442986.1_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000413025.1_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000452305.1_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000436087.2_Frame_Shift_Del_p.FG576fs	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGGATGTGGCCAAACACTTTTGCA	0.485													15	104	---	---	---	---					
ZNF503	84858	broad.mit.edu	37	10	77044147	77044147	+	RNA	DEL	T	T	-	rs68051028	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:77044147delT	ENST00000418818.2	-	0	142																											GGGGCGTTGGTGGGGAGGGTT	0.602													2	4	---	---	---	---					
CTD-2540L5.5	0	broad.mit.edu	37	14	71067484	71067504	+	RNA	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000553982.1	-	0	294																											gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.710													3	4	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755307	45755309	+	RNA	DEL	CAC	CAC	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:45755307_45755309delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							acatcaccatcaccaccaccacc	0.596													2	4	---	---	---	---					
FNDC8	54752	broad.mit.edu	37	17	33454271	33454271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33454271delC	ENST00000158009.5	+	2	535	c.420delC	c.(418-420)tgfs	p.C140fs		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	140										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TCGGCCCCTGCCCATGCCCAT	0.577													19	234	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060475	56060476	+	Frame_Shift_Ins	INS	-	-	C	rs140158628		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:56060475_56060476insC	ENST00000584396.1	-	2	373_374	c.285_286insG	c.(283-288)cgcaaafs	p.K96fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.K105fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	105					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						GTTTTCTTTGGCCGGGACACCA	0.535													22	116	---	---	---	---					
PTPRH	5794	broad.mit.edu	37	19	55697279	55697284	+	In_Frame_Del	DEL	CCTACC	CCTACC	-	rs61734259	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55697279_55697284delCCTACC	ENST00000376350.3	-	17	2869_2874	c.2847_2852delGGTAGG	c.(2845-2853)ctt>ct	p.LVG949del	PTPRH_ENST00000263434.5_In_Frame_Del_p.LVG771del	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	949	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACTTCCTCACCTACCAGGGTTACCC	0.621													7	226	---	---	---	---					
ADAM33	80332	broad.mit.edu	37	20	3655458	3655458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:3655458delG	ENST00000356518.2	-	5	613	c.372delC	c.(370-372)ccfs	p.P124fs	ADAM33_ENST00000379861.4_Frame_Shift_Del_p.P124fs|ADAM33_ENST00000350009.2_Frame_Shift_Del_p.P124fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	124					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCAGGAGTCGGGGAAGCCCC	0.632													9	74	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11177872	11177873	+	RNA	INS	-	-	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:11177872_11177873insA	ENST00000603265.1	+	0	231																											gaggcaggcggatcacctgagg	0.446													2	4	---	---	---	---					
