Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRPM4_chr19_49152792_49216836	49157059	CTCTCTCT others(37): Show CTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	312	0.0032	-44	c.-80 others(53): Show c.-807_-764delTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTC TGTCCCCC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding					732		chr19	TogoVar
TRPM4_chr19_49152792_49216836	49167181	GTCTCTGG others(37): Show GTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp1 HG02965.hp1 others(6): Show HG01346.hp2 HG02258.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0292 a0001c0001t0001g0310 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0007t0001g0282 a0001c0007t0004g0132 a0001c0007t0004g0133 a0001c0008t0001g0085 a0001c0008t0001g0291 a0001c0008t0001g0293	9	312	0.0289	-44	c.268 others(59): Show c.268-673_268-630delTCTCTCTCTGGGTCTCTGTCCCTCTCTCTC TGGGTCTCTGTCCC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM4_chr19_49152792_49216836	49167422	CCCATCTC others(37): Show CCCATCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02258.hp1 others(10): Show HG01346.hp2 HG02109.hp2 HG02258.hp1 HG02486.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0013t0001	a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0310 others(10): Show a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0310 a0001c0003t0001g0101 a0001c0003t0001g0108 a0001c0003t0002g0088 a0001c0007t0001g0282 a0001c0007t0004g0132 a0001c0007t0004g0133 a0001c0008t0001g0085 a0001c0008t0001g0291 a0001c0008t0001g0293 a0001c0013t0001g0102	13	312	0.0417	-44	c.268 others(59): Show c.268-451_268-408delGCCATCTCTCTGGGTCTCTGTCCCTCTCTC TCTGGGTCTCTGTC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM4_chr19_49152792_49216836	49167730	CTCTCTCT others(37): Show CTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG01081.hp1 HG01167.hp2 HG01169.hp1 HG02109.hp2 HG02486.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0013t0001	a0001c0001t0001g0296 a0001c0001t0002g0066 a0001c0001t0002g0067 others(5): Show a0001c0001t0001g0296 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0003t0001g0101 a0001c0003t0001g0108 a0001c0003t0002g0088 a0001c0013t0001g0102	8	312	0.0256	-44	c.268 others(59): Show c.268-143_268-100delATCTCTCTGGGTCTCTGTCCCTCTCTCTCT GGGTCTCTGTCCCC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142217303	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0149 a0005c0005t0002g0149	1	238	0.0042	-44	c.12 others(61): Show c.12-5034_*12-4991delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142251860	CGCCGCCC others(37): Show CGCCGCCCGCATTCTCTGTCTTCAGGGCCCGGGCACCATGTACCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0130 a0004c0004t0001g0130	1	238	0.0042	-44	c.144 others(65): Show c.1447-22325_1447-22282delAGGTACATGGTGCCCGGGCCCTGA AGACAGAGAATGCGGGCGGC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142252000	GCGTTCTC others(37): Show GCGTTCTCTATCTGCAGGGCCCGGGCACCATGTACCCGCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG02040.hp1 others(7): Show HG01106.hp2 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG02451.hp1 HG02615.hp2 HG02896.hp2 HG03492.hp2 HG03831.hp1 NA18967.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 a0006c0006t0001 a0006c0006t0002	a0001c0001t0001g0031 a0001c0001t0002g0034 a0002c0002t0001g0153 others(7): Show a0001c0001t0001g0031 a0001c0001t0002g0034 a0002c0002t0001g0153 a0005c0005t0002g0148 a0005c0005t0002g0149 a0006c0006t0001g0233 a0006c0006t0002g0028 a0006c0006t0002g0069 a0006c0006t0002g0221 a0006c0006t0002g0229	10	238	0.0420	-44	c.144 others(65): Show c.1447-22465_1447-22422delTGGGCGGCGGGTACATGGTGCCCG GGCCCTGCAGATAGAGAACG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13						chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3109784	GCAAAACT others(37): Show GCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAGACTTTTTAGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0081 a0001c0001t0007 a0001c0001t0010 a0001c0001t0081	a0001c0001t0007g0196 a0001c0001t0010g0025 a0001c0001t0081g0197 a0001c0001t0007g0196 a0001c0001t0010g0025 a0001c0001t0081g0197	3	288	0.0104	-44	c.-18 others(63): Show c.-18+26066_-18+26109delCAAAACTCTGTCTCAAAAAAAAAAAA AAAAAGACTTTTTAGGGC		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8						chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226716	GTATGTGT others(37): Show GTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20805.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0180 a0001c0001t0016g0062 a0001c0001t0011g0180 a0001c0001t0016g0062	2	288	0.0069	-44	c.63+ others(61): Show c.63+25464_63+25507delGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235207	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0003 a0001c0001t0023g0001 a0001c0001t0023g0003	2	288	0.0069	-44	c.63+ others(61): Show c.63+33953_63+33996delAAAAAAAAAATATATATATATATATATA TATATATATATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3269203	TCTGTGTT others(37): Show TCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01257.hp2 others(4): Show HG00099.hp2 HG00642.hp1 HG01257.hp2 HG02273.hp2 HG03490.hp2 HG03688.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0014 a0001c0003t0033 a0001c0003t0010 a0001c0003t0014 a0001c0003t0033	a0001c0003t0010g0087 a0001c0003t0014g0137 a0001c0003t0014g0138 others(4): Show a0001c0003t0010g0087 a0001c0003t0014g0137 a0001c0003t0014g0138 a0001c0003t0014g0145 a0001c0003t0014g0182 a0001c0003t0014g0266 a0001c0003t0033g0093	7	288	0.0243	-44	c.64- others(59): Show c.64-9195_64-9152delCTCTGTGTTCCTGCAGCCTGCCCTGTGTTC CTGCAGCCTGCCCT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPYL2_chrX_53077367_53093540	53082186	TGATGATG others(37): Show TGATGATGTGTGGTGTTGGCAAGCGGATTGCGTGAGAGCGGGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0014 a0017c0013t0014	a0017c0013t0014g0035 a0017c0013t0014g0035	1	258	0.0039	-44	c.-31 others(53): Show c.-312_-269delGATGATGTGTGGTGTTGGCAAGCGGATTGCGTGAGA GCGGGCAG		TSPYL2	ENSG00000184205.14	transcript	ENST00000375442.8	protein_coding					180		chrX	TogoVar
TSTD3_chr6_99516049_99538185	99535901	GTATATAC others(37): Show GTATATACATATATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	436	0.0023	-44	c.41 others(55): Show c.4182_*4225delTATATACATATATATATATATATATATATATATA TATATATATA		TSTD3	ENSG00000279170.3	transcript	ENST00000452647.3	protein_coding					2717		chr6	TogoVar
TTBK2_chr15_42733730_42925778	42763131	CATATATA others(37): Show CATATATACATACATATATATATATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0235	1	248	0.0040	-44	c.199 others(63): Show c.1999-9928_1999-9885delATATATATATATATATATGTATATAT ATATATGTATGTATATAT		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTC24_chr1_156574723_156592719	156587542	CATTGATG others(37): Show CATTGATGAACAGGCCAGGTGAGATGGCTCACCCTTGTAATCCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0002 a0002c0002t0013g0002	1	442	0.0023	-44	c.99 others(54): Show c.993_*1036delATTGATGAACAGGCCAGGTGAGATGGCTCACCCTT GTAATCCTA		TTC24	ENSG00000187862.13	transcript	ENST00000368236.8	protein_coding	11/11				993		chr1	TogoVar
TTC39C_chr18_24009754_24140600	24023937	TATATATA others(37): Show TATATATATGCATGTATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG02602.hp1 others(12): Show HG00280.hp1 HG01109.hp2 HG02602.hp1 HG02683.hp1 HG02922.hp2 NA18612.hp1 NA18957.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0028 a0001c0001t0041 a0001c0001t0046	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0006 others(12): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0006 a0001c0001t0002g0167 a0001c0001t0003g0168 a0001c0001t0003g0179 a0001c0001t0005g0161 a0001c0001t0007g0169 a0001c0001t0007g0171 a0001c0001t0007g0219 a0001c0001t0011g0170 a0001c0001t0011g0194 a0001c0001t0028g0163 a0001c0001t0041g0190 a0001c0001t0046g0172	15	328	0.0457	-44	c.167 others(61): Show c.167+8908_167+8951delGCATGTATATATATATATATATATATAT ATATATACATATATAT		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC4_chr1_54710861_54747657	54736224	AGAGGAGA others(37): Show AGAGGAGAGGAGAGAGAAGAGAGGAGAGAGGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0255 a0001c0009t0003g0255	1	398	0.0025	-44	c.979 others(61): Show c.979-1357_979-1314delGAGGAGAGGAGAGAGAAGAGAGGAGAGA GGAGAGAGAGAGAGAG		TTC4	ENSG00000243725.7	transcript	ENST00000371281.4	protein_coding	8/9						chr1	TogoVar
TTC7B_chr14_90519564_90821430	90695031	TTTTTATT others(37): Show TTTTTATTTTATTATAAAATATATTTTATTTTATTATAAAATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01981.hp1 HG01993.hp1 others(5): Show HG01167.hp2 HG01981.hp1 HG01993.hp1 HG03831.hp1 NA18966.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0019	a0001c0001t0044 a0001c0001t0077 a0001c0003t0001 others(5): Show a0001c0001t0044 a0001c0001t0077 a0001c0003t0001 a0001c0003t0045 a0001c0004t0092 a0001c0004t0097 a0001c0005t0005 a0001c0019t0005	a0001c0001t0044g0055 a0001c0001t0077g0123 a0001c0003t0001g0118 others(5): Show a0001c0001t0044g0055 a0001c0001t0077g0123 a0001c0003t0001g0118 a0001c0003t0045g0058 a0001c0004t0092g0019 a0001c0004t0097g0017 a0001c0005t0005g0012 a0001c0019t0005g0185	8	200	0.0400	-44	c.777 others(59): Show c.777+425_777+468delTATATTTTATAATAAAATAAAATATATTTT ATAATAAAATAAAA		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19						chr14	TogoVar
TTC8_chr14_88819651_88882988	88862541	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	400	0.0025	-44	c.909 others(61): Show c.909+1222_909+1265delATATATATATATATATATATATATATAT ATATATATATATATAT		TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL11_chr9_121810674_122098308	121826513	ATGTATAT others(37): Show ATGTATATATATATATGTGTGTGTGTATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02615.hp1 HG04204.hp2 others(1): Show HG01123.hp2 HG02615.hp1 HG04204.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0016g0125	4	174	0.0230	-44	c.184 others(63): Show c.1841-3678_1841-3635delCACACACATATATATATATACACACA CACATATATATATATACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8						chr9	TogoVar
TTLL13_chr15_90244556_90270477	90256570	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG03486.hp2 HG02258.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0034 a0001c0001t0001g0098	3	432	0.0069	-44	c.705 others(59): Show c.705+277_705+320delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCCTTCCTTC		TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL13_chr15_90244556_90270477	90256578	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	432	0.0023	-44	c.705 others(59): Show c.705+285_705+328delTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT TCCTTCCTTCCTTC		TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL8_chr22_50013575_50063298	50028793	GAAGACCC others(37): Show GAAGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA20805.hp2 HG00673.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0122 a0004c0004t0001g0130 a0001c0001t0001g0122 a0004c0004t0001g0130	2	224	0.0089	-44	c.225 others(63): Show c.2251+1593_2251+1636delTAGGACAGCGTGATGGGGGTCTTTAC GAGGGTGTGTGGGGTCTT		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029319	ACCCCACA others(37): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18747.hp1 NA18994.hp2 others(1): Show HG02056.hp1 NA18747.hp1 NA18994.hp2 NA19002.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0004 a0004c0004t0002 a0004c0004t0004	a0004c0004t0002g0004 a0004c0004t0002g0167 a0004c0004t0004g0217 a0004c0004t0002g0004 a0004c0004t0002g0167 a0004c0004t0004g0217	4	224	0.0179	-44	c.225 others(63): Show c.2251+1067_2251+1110delGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50043098	GGTAGATG others(37): Show GGTAGATGGATAGACAGATAAACAGTGGTGCCGAGACGTCCTTCA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	224	0.0045	-44	c.752 others(61): Show c.752-1335_752-1292delTGAAGGACGTCTCGGCACCACTGTTTAT CTGTCTATCCATCTAC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	8/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50043134	CGTCCTTC others(37): Show CGTCCTTCAGTAGATGGATAGATAGATAAACAGTGGTGCCGACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02647.hp2 others(2): Show HG02055.hp2 HG02486.hp1 HG02647.hp2 HG02965.hp1 HG03225.hp1	a0004 a0013 a0016 others(1): Show a0004 a0013 a0016 a0021	a0004c0004 a0013c0011 a0016c0022 others(1): Show a0004c0004 a0013c0011 a0016c0022 a0021c0016	a0004c0004t0002 a0013c0011t0002 a0016c0022t0002 others(1): Show a0004c0004t0002 a0013c0011t0002 a0016c0022t0002 a0021c0016t0002	a0004c0004t0002g0191 a0004c0004t0002g0193 a0013c0011t0002g0057 others(2): Show a0004c0004t0002g0191 a0004c0004t0002g0193 a0013c0011t0002g0057 a0016c0022t0002g0189 a0021c0016t0002g0022	5	224	0.0223	-44	c.752 others(61): Show c.752-1371_752-1328delATGTCGGCACCACTGTTTATCTATCTAT CCATCTACTGAAGGAC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	8/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50043530	CACCCTTC others(37): Show CACCCTTCGTTAGATGGATAGATAGATAAACAGTGGTGCCAACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0192 a0020c0017t0001g0192	1	224	0.0045	-44	c.751 others(61): Show c.751+1681_751+1724delATGTTGGCACCACTGTTTATCTATCTAT CCATCTAACGAAGGGT		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	8/13						chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23043344	CACCTGGC others(37): Show CACCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACTTCCTAACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0034 a0001c0007t0001g0034	1	351	0.0029	-44	c.-38 others(55): Show c.-3845_-3802delAGGGTTAGGAAGTTCCCCCCGCCCCCCAGCACCT CCGGCCAGGT		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3776		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043706	ATCATAAC others(37): Show ATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGGAACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp2 others(8): Show HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 others(7): Show a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 a0002c0004t0002g0263 a0002c0004t0002g0264 a0002c0004t0002g0268 a0002c0004t0002g0269 a0002c0005t0002g0260 a0002c0005t0002g0266 a0002c0005t0002g0267	11	351	0.0313	-44	c.-42 others(55): Show c.-4207_-4164delAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCT GGGGTTATGA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					4138		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044412	ATCATAAC others(37): Show ATCATAACCCCAGCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02965.hp2 HG03139.hp1 others(3): Show HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0188 a0001c0003t0001g0129 a0001c0003t0001g0130 others(3): Show a0001c0001t0001g0188 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0004g0128	6	351	0.0171	-44	c.-49 others(55): Show c.-4913_-4870delAGTTCCCCCCGCCCCCCAGCACCTCCGGCCAGCT GGGGTTATGA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					4844		chr15	TogoVar
TULP4_chr6_158307465_158516828	158331722	CACACACA others(37): Show CACACACATACGTATATATATACGTGTATATACACGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0016 a0001c0031t0016	a0001c0031t0016g0224 a0001c0031t0016g0224	1	268	0.0037	-44	c.252 others(63): Show c.252+17459_252+17502delACATACGTATATATATACGTGTATAT ACACGTGTATATATACAC		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TXNRD1_chr12_104210779_104355307	104267659	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	302	0.0033	-44	c.304 others(61): Show c.304+9600_304+9643delTTCTTTCTTTCTTTCTTTCTTTCTCTCT TTCTTTCTTTCTTTCT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TYMS_chr18_652653_678578	667422	GGTGATGG others(37): Show GGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0426 a0001c0001t0004g0426	1	482	0.0021	-44	c.455 others(61): Show c.455-1648_455-1605delTGATGGAGATGGTGATGGTGATGGTGAT GGTGATGATGGAGATG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1B_chr7_72569513_72833200	72828971	GCCATGAC others(37): Show GCCATGACCCTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0196 a0001c0006t0001g0196	1	286	0.0035	-44	c.-94 others(53): Show c.-940_-897delTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAG GGTCATGG		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding					772		chr7	TogoVar
TYW1_chr7_66991833_67244514	67237228	TGGTGGCT others(37): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01168.hp1 others(36): Show HG00323.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp1 NA19030.hp1 NA19240.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0004 a0002c0007 others(1): Show a0002c0003 a0002c0004 a0002c0007 a0010c0012	a0002c0003t0002 a0002c0003t0013 a0002c0004t0002 others(2): Show a0002c0003t0002 a0002c0003t0013 a0002c0004t0002 a0002c0007t0002 a0010c0012t0002	a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0136 others(36): Show a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0013g0219 a0002c0004t0002g0289 a0002c0007t0002g0232 a0002c0007t0002g0238 a0010c0012t0002g0227	39	364	0.1071	-44	c.197 others(63): Show c.1978-1074_1978-1031delCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCCGGTGG		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
U2SURP_chr3_142996570_143065725	143031405	CAACCTTC others(37): Show CAACCTTCAGCTACCACCGCCCTAACCTTCAGCTACCACCACCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	378	0.0027	-44	c.161 others(63): Show c.1611-1361_1611-1318delGCCCTAACCTTCAGCTACCACCACCC TAACCTTCAGCTACCACC		U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	16/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBASH3A_chr21_42398902_42452684	42435712	ATTATAGA others(37): Show ATTATAGAGTTAGTTATAGAGTTATAGAGTCATAGATTTATAGAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0299 a0001c0009t0001g0299	1	408	0.0025	-44	c.139 others(61): Show c.1393+882_1393+925delTTTATAGAGTTATAGAGTTAGTTATAGA GTTATAGAGTCATAGA		UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
UBE2I_chr16_1304636_1332017	1308640	GGAATTAG others(37): Show GGAATTAGTGAGTGAGGGAGGGAATGACGGAGTAGGGGAGGGAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	364	0.0028	-44	c.-11 others(55): Show c.-1144_-1101delGAATTAGTGAGTGAGGGAGGGAATGACGGAGTAG GGGAGGGAAT		UBE2I	ENSG00000103275.22	transcript	ENST00000397514.8	protein_coding					995		chr16	TogoVar
UBE3A_chr15_25328728_25444024	25367211	ATGTAAAT others(37): Show ATGTAAATATTTACATATTTGTAAATATGTAAATATTTGCATATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(64): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01192.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp1 HG02602.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19078.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0034 a0001c0001t0049 a0001c0001t0050 a0001c0004t0014	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(64): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0292 a0001c0001t0015g0069 a0001c0001t0015g0088 a0001c0001t0015g0126 a0001c0001t0015g0128 a0001c0001t0016g0099 a0001c0001t0016g0104 a0001c0001t0016g0118 a0001c0001t0016g0127 a0001c0001t0020g0096 a0001c0001t0020g0098 a0001c0001t0020g0105 a0001c0001t0025g0075 a0001c0001t0025g0093 a0001c0001t0034g0086 a0001c0001t0049g0121 a0001c0001t0050g0084 a0001c0004t0014g0130 a0001c0004t0014g0131 a0001c0004t0014g0132 a0001c0004t0014g0133	67	298	0.2248	-44	c.160 others(63): Show c.1608+3311_1608+3354delAATATGCAAATATTTACATATTTACA AATATGTAAATATTTACA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12						chr15	TogoVar
UBE3A_chr15_25328728_25444024	25367231	GTAAATAT others(37): Show GTAAATATGTAAATATTTGCATATTTGTAAATATGTAAATATTTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0100 a0001c0001t0048g0100	1	298	0.0034	-44	c.160 others(63): Show c.1608+3291_1608+3334delTAAATATTTACATATTTACAAATATG CAAATATTTACATATTTA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12						chr15	TogoVar
UBL3_chr13_29759371_29855617	29835083	AATATAAA others(37): Show AATATAAATATATATATATATATAAATATATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp2 HG02922.hp1 HG01175.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0005 a0001c0001t0032	a0001c0001t0005g0351 a0001c0001t0005g0364 a0001c0001t0032g0363 a0001c0001t0005g0351 a0001c0001t0005g0364 a0001c0001t0032g0363	3	392	0.0077	-44	c.27+ others(61): Show c.27+14385_27+14428delATTTATATATATATATATATTTATATAT ATATATATATTTATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(37): Show AATATATATATATATATAAATATATATATATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp1 HG01243.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0288 a0001c0001t0002g0266 a0001c0001t0002g0288	2	392	0.0051	-44	c.27+ others(61): Show c.27+14379_27+14422delATATATATTTATATATATATATATATTT ATATATATATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBN1_chr16_4842481_4887401	4858607	ATCGATAT others(37): Show ATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGAT	A A	frameshift_variant frameshift_variant	HIGH	NA19063.hp2 NA19063.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0253 a0013c0013t0001g0253	1	376	0.0027	-44	c.377 others(51): Show c.377_420delTCGATATGGGGTATGGTTATGATGAATCCGACTCCTTC ATCGAT	p.Ile others(5): Show p.Ile126fs	UBN1	ENSG00000118900.15	transcript	ENST00000262376.11	protein_coding	4/18	1146/6443	377/3405	126/1134			chr16	TogoVar
UBR4_chr1_19069510_19215266	19143259	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	326	0.0031	-44	c.817 others(61): Show c.8179+677_8179+720delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
ULK4_chr3_41241599_41967103	41890894	ACGGGAGG others(37): Show ACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0050 a0011c0018t0001g0050	1	72	0.0139	-44	c.157 others(63): Show c.1577+4580_1577+4623delCCCGTCCCTTCTTTCCCCCTCCCGTC CCTTCTTTCCCCCTCCCG		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36						chr3	TogoVar
UMODL1_chr21_42066317_42147996	42140365	AGGAGGTC others(37): Show AGGAGGTCCAGGGCAGGAAGGGATGTGTCCCAGGTCACGTGGTTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0012 a0012	a0012c0051 a0012c0051	a0012c0051t0023 a0012c0051t0023	a0012c0051t0023g0162 a0012c0051t0023g0163 a0012c0051t0023g0162 a0012c0051t0023g0163	2	400	0.0050	-44	c.22 others(61): Show c.22-1707_*22-1664delGTGTCCCAGGTCACGTGGTTGGGAGGTC CAGGGCAGGAAGGGAT		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35328626	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0201 a0005c0006t0001g0201	1	224	0.0045	-44	c.941 others(65): Show c.9414+14648_9414+14691delTTCCTTCCTTCCTTCCTTCCTTCC TTCCTCCCTCCCTTCCTTCC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54195090	TTCCCCAT others(37): Show TTCCCCATGATCTCTGATACTGCACATACAAAAATGGAATTTCAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(25): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01891.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02602.hp1 HG02886.hp2 HG03098.hp2 HG03486.hp1 HG03492.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18953.hp2 NA18993.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0034 a0002c0015 a0002c0017 a0002c0018 a0002c0019 a0002c0036 a0004c0009 a0005c0027 a0012c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0047 a0001c0002t0001 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0051 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0003t0050 a0001c0004t0028 a0001c0005t0003 a0001c0012t0017 a0001c0034t0058 a0002c0015t0012 a0002c0017t0007 a0002c0018t0004 a0002c0019t0054 a0002c0036t0004 a0004c0009t0005 a0005c0027t0008 a0012c0031t0001	a0001c0001t0001g0045 a0001c0001t0002g0144 a0001c0001t0007g0028 others(25): Show a0001c0001t0001g0045 a0001c0001t0002g0144 a0001c0001t0007g0028 a0001c0001t0016g0113 a0001c0001t0047g0131 a0001c0002t0001g0005 a0001c0002t0021g0080 a0001c0002t0022g0092 a0001c0002t0023g0098 a0001c0002t0051g0157 a0001c0003t0003g0065 a0001c0003t0005g0128 a0001c0003t0010g0026 a0001c0003t0050g0012 a0001c0004t0028g0148 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0034t0058g0149 a0002c0015t0012g0047 a0002c0017t0007g0060 a0002c0018t0004g0048 a0002c0019t0054g0059 a0002c0036t0004g0010 a0004c0009t0005g0132 a0005c0027t0008g0072 a0012c0031t0001g0051	28	158	0.1772	-44	c.307 others(65): Show c.3072-39892_3072-39849delCCATGATCTCTGATACTGCACATA CAAAAATGGAATTTCAATCC		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54524188	AGATATGT others(37): Show AGATATGTTAATTTTCTCACTCTTATAGAAGTCTCTATCTGTTAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02922.hp1 others(1): Show HG01884.hp1 HG02258.hp1 HG02922.hp1 HG03139.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0014 a0007c0010 a0001c0001 a0001c0014 a0007c0010	a0001c0001t0014 a0001c0014t0002 a0007c0010t0035 a0001c0001t0014 a0001c0014t0002 a0007c0010t0035	a0001c0001t0014g0084 a0001c0014t0002g0076 a0001c0014t0002g0087 others(1): Show a0001c0001t0014g0084 a0001c0014t0002g0076 a0001c0014t0002g0087 a0007c0010t0035g0140	4	158	0.0253	-44	c.545 others(63): Show c.5458-1315_5458-1272delATATGTTAATTTTCTCACTCTTATAG AAGTCTCTATCTGTTATG		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	24/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC80_chr2_209766832_210004296	209955708	TATATATA others(37): Show TATATATATATATATATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02559.hp2 others(13): Show HG01433.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 NA19240.hp2 NA20300.hp2	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0006 a0001c0012 a0001c0013 others(6): Show a0001c0006 a0001c0012 a0001c0013 a0001c0016 a0001c0034 a0001c0045 a0001c0048 a0005c0046 a0014c0030	a0001c0006t0001 a0001c0006t0002 a0001c0012t0001 others(8): Show a0001c0006t0001 a0001c0006t0002 a0001c0012t0001 a0001c0013t0002 a0001c0013t0011 a0001c0016t0002 a0001c0034t0003 a0001c0045t0001 a0001c0048t0001 a0005c0046t0001 a0014c0030t0002	a0001c0006t0001g0001 a0001c0006t0001g0090 a0001c0006t0001g0091 others(13): Show a0001c0006t0001g0001 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0002g0079 a0001c0006t0002g0180 a0001c0012t0001g0044 a0001c0012t0001g0077 a0001c0013t0002g0184 a0001c0013t0011g0182 a0001c0016t0002g0015 a0001c0016t0002g0085 a0001c0034t0003g0145 a0001c0045t0001g0039 a0001c0048t0001g0046 a0005c0046t0001g0102 a0014c0030t0002g0065	16	188	0.0851	-44	c.745 others(63): Show c.7457+1440_7457+1483delTATATATATATATATATATATATATA TATACACACACACACACA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64					INFO_REALIGN_3_PRIME	chr2	TogoVar

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