Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UTP4_chr16_69127649_69174021	69154704	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01109.hp1 others(15): Show HG00099.hp2 HG00741.hp2 HG01109.hp1 HG01346.hp1 HG01361.hp1 HG01891.hp1 HG02257.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp1 HG04199.hp2 HG06807.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA19007.hp1 NA19030.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 others(15): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0264 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038	18	226	0.0796	8	c.116 others(25): Show c.1164+279_1164+286dupATTTATTT	UTP4	ENSG00000141076.18	transcript	ENST00000314423.12	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
UTRN_chr6_144280335_144858034	144343363	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp1 others(1): Show HG02258.hp2 HG02559.hp2 HG02647.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0006 a0001c0001t0016 a0001c0001t0027 others(1): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0027 a0002c0016t0001	a0001c0001t0006g0013 a0001c0001t0016g0055 a0001c0001t0027g0095 others(1): Show a0001c0001t0006g0013 a0001c0001t0016g0055 a0001c0001t0027g0095 a0002c0016t0001g0015	4	29	0.1379	8	c.79+ others(25): Show c.79+51496_79+51503dupCACACACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144346875	C C	CATCTATC others(1): Show CATCTATCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02647.hp2 others(13): Show HG01081.hp1 HG01884.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0018 a0001c0033 a0001c0051 a0001c0058 a0002c0025 a0002c0027 a0002c0048 a0004c0017 a0013c0046	a0001c0001t0001 a0001c0001t0006 a0001c0002t0005 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0005 a0001c0006t0009 a0001c0009t0011 a0001c0011t0014 a0001c0013t0009 a0001c0018t0013 a0001c0033t0001 a0001c0051t0009 a0001c0058t0011 a0002c0025t0015 a0002c0027t0001 a0002c0048t0012 a0004c0017t0024 a0013c0046t0020	a0001c0001t0001g0054 a0001c0001t0006g0013 a0001c0002t0005g0119 others(13): Show a0001c0001t0001g0054 a0001c0001t0006g0013 a0001c0002t0005g0119 a0001c0006t0009g0010 a0001c0009t0011g0078 a0001c0011t0014g0121 a0001c0013t0009g0003 a0001c0018t0013g0070 a0001c0033t0001g0008 a0001c0051t0009g0005 a0001c0058t0011g0080 a0002c0025t0015g0002 a0002c0027t0001g0022 a0002c0048t0012g0058 a0004c0017t0024g0126 a0013c0046t0020g0069	16	82	0.1951	8	c.79+ others(25): Show c.79+54992_79+54999dupTATCTATC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144353844	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01433.hp2 others(21): Show HG01081.hp1 HG01123.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0009 a0013	a0001c0001 a0001c0002 a0001c0006 others(14): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0018 a0001c0022 a0001c0051 a0001c0058 a0002c0025 a0002c0053 a0002c0054 a0004c0017 a0007c0040 a0009c0042 a0013c0046	a0001c0001t0001 a0001c0002t0005 a0001c0002t0012 others(16): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0012 a0001c0006t0003 a0001c0006t0005 a0001c0009t0011 a0001c0011t0014 a0001c0013t0009 a0001c0018t0013 a0001c0022t0001 a0001c0051t0009 a0001c0058t0011 a0002c0025t0015 a0002c0053t0001 a0002c0054t0002 a0004c0017t0024 a0007c0040t0003 a0009c0042t0002 a0013c0046t0020	a0001c0001t0001g0054 a0001c0002t0005g0112 a0001c0002t0005g0119 others(21): Show a0001c0001t0001g0054 a0001c0002t0005g0112 a0001c0002t0005g0119 a0001c0002t0012g0071 a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 a0001c0009t0011g0078 a0001c0009t0011g0081 a0001c0011t0014g0121 a0001c0011t0014g0122 a0001c0013t0009g0003 a0001c0013t0009g0074 a0001c0018t0013g0070 a0001c0022t0001g0004 a0001c0051t0009g0005 a0001c0058t0011g0080 a0002c0025t0015g0002 a0002c0053t0001g0043 a0002c0054t0002g0017 a0004c0017t0024g0126 a0007c0040t0003g0128 a0009c0042t0002g0083 a0013c0046t0020g0069	24	105	0.2286	8	c.80- others(25): Show c.80-49269_80-49262dupAACAAACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144353858	A A	AACAAACA others(1): Show AACAAACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 HG03540.hp2 HG02895.hp2 HG03225.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0016 a0001c0001 a0002c0005 a0002c0016	a0001c0001t0001 a0002c0005t0006 a0002c0016t0019 a0001c0001t0001 a0002c0005t0006 a0002c0016t0019	a0001c0001t0001g0051 a0002c0005t0006g0052 a0002c0016t0019g0079 a0001c0001t0001g0051 a0002c0005t0006g0052 a0002c0016t0019g0079	3	126	0.0238	8	c.80- others(25): Show c.80-49262_80-49261insAACACACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144388481	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02615.hp1 others(4): Show HG00735.hp2 HG01891.hp2 HG02615.hp1 HG02886.hp1 HG02895.hp2 HG03209.hp1 HG03453.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0001 a0002c0005 a0002c0016 others(3): Show a0001c0001 a0002c0005 a0002c0016 a0002c0053 a0009c0042 a0012c0047	a0001c0001t0001 a0001c0001t0005 a0002c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0002c0005t0001 a0002c0016t0019 a0002c0053t0001 a0009c0042t0002 a0012c0047t0001	a0001c0001t0001g0054 a0001c0001t0005g0102 a0002c0005t0001g0061 others(4): Show a0001c0001t0001g0054 a0001c0001t0005g0102 a0002c0005t0001g0061 a0002c0016t0019g0079 a0002c0053t0001g0043 a0009c0042t0002g0083 a0012c0047t0001g0011	7	75	0.0933	8	c.80- others(25): Show c.80-14611_80-14604dupATTTATTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144410796	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG03130.hp1 HG01884.hp1 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0009 a0001c0018 a0001c0058 a0001c0009 a0001c0018 a0001c0058	a0001c0009t0011 a0001c0018t0013 a0001c0058t0011 a0001c0009t0011 a0001c0018t0013 a0001c0058t0011	a0001c0009t0011g0078 a0001c0018t0013g0070 a0001c0058t0011g0080 a0001c0009t0011g0078 a0001c0018t0013g0070 a0001c0058t0011g0080	3	105	0.0286	8	c.141 others(25): Show c.141+7630_141+7637dupGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	3/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144412762	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp2 HG02886.hp2 others(3): Show HG01433.hp2 HG02647.hp2 HG02886.hp2 HG03098.hp2 HG03139.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0001c0011 a0005c0014 a0001c0006 a0001c0011 a0005c0014	a0001c0006t0003 a0001c0006t0005 a0001c0011t0014 others(1): Show a0001c0006t0003 a0001c0006t0005 a0001c0011t0014 a0005c0014t0014	a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 others(3): Show a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 a0001c0011t0014g0121 a0001c0011t0014g0122 a0005c0014t0014g0120	6	81	0.0741	8	c.142 others(25): Show c.142-9094_142-9087dupCACACACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	3/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144477869	C C	CTCTATCT others(1): Show CTCTATCTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18956.hp1 NA18956.hp2 HG00735.hp2 NA18956.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0004	a0001c0001t0005g0102 a0001c0001t0008g0034 a0001c0002t0004g0076 a0001c0001t0005g0102 a0001c0001t0008g0034 a0001c0002t0004g0076	3	36	0.0833	8	c.333 others(27): Show c.3337-1908_3337-1901dupTATCTATC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	25/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144477869	C C	CTTTATCT others(1): Show CTTTATCTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01255.hp2 others(18): Show HG00438.hp1 HG00735.hp1 HG01255.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18954.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0008 a0010 a0011 a0014 a0016	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0011 a0001c0041 a0001c0051 a0002c0030 a0003c0004 a0003c0012 a0007c0040 a0008c0055 a0010c0056 a0011c0049 a0014c0021 a0016c0044	a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 others(17): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 a0001c0002t0010 a0001c0006t0003 a0001c0006t0009 a0001c0010t0002 a0001c0011t0014 a0001c0041t0002 a0001c0051t0009 a0002c0030t0016 a0003c0004t0002 a0003c0004t0003 a0003c0012t0008 a0007c0040t0003 a0008c0055t0001 a0010c0056t0006 a0011c0049t0001 a0014c0021t0005 a0016c0044t0013	a0001c0001t0002g0064 a0001c0001t0016g0055 a0001c0001t0027g0095 others(18): Show a0001c0001t0002g0064 a0001c0001t0016g0055 a0001c0001t0027g0095 a0001c0002t0010g0094 a0001c0006t0003g0125 a0001c0006t0009g0010 a0001c0010t0002g0059 a0001c0011t0014g0121 a0001c0041t0002g0039 a0001c0051t0009g0005 a0002c0030t0016g0016 a0003c0004t0002g0027 a0003c0004t0002g0031 a0003c0004t0003g0107 a0003c0012t0008g0036 a0007c0040t0003g0128 a0008c0055t0001g0007 a0010c0056t0006g0001 a0011c0049t0001g0067 a0014c0021t0005g0118 a0016c0044t0013g0024	21	54	0.3889	8	c.333 others(27): Show c.3337-1942_3337-1941insTTATCTAT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	25/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144551136	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 NA18981.hp2 HG02258.hp2 HG06807.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0007 a0001c0001t0002 a0001c0001t0016 a0001c0002t0007	a0001c0001t0002g0064 a0001c0001t0016g0055 a0001c0002t0007g0100 a0001c0001t0002g0064 a0001c0001t0016g0055 a0001c0002t0007g0100	3	39	0.0769	8	c.692 others(23): Show c.6928+80_6928+87dupCACACACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	48/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144631237	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG04199.hp2 others(3): Show HG02257.hp2 HG02886.hp2 HG04199.hp2 HG04228.hp1 NA18945.hp1 NA18954.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0014	a0002c0005 a0003c0012 a0003c0015 others(2): Show a0002c0005 a0003c0012 a0003c0015 a0005c0014 a0014c0021	a0002c0005t0010 a0003c0012t0008 a0003c0015t0001 others(3): Show a0002c0005t0010 a0003c0012t0008 a0003c0015t0001 a0005c0014t0002 a0005c0014t0014 a0014c0021t0005	a0002c0005t0010g0096 a0003c0012t0008g0036 a0003c0015t0001g0019 others(3): Show a0002c0005t0010g0096 a0003c0012t0008g0036 a0003c0015t0001g0019 a0005c0014t0002g0014 a0005c0014t0014g0120 a0014c0021t0005g0118	6	31	0.1935	8	c.748 others(29): Show c.7480-47142_7480-47135dupGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	51/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144669956	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG03139.hp1 others(2): Show HG00140.hp1 HG01358.hp2 HG03139.hp1 NA18906.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0018 a0002c0005 others(1): Show a0001c0003 a0001c0018 a0002c0005 a0002c0025	a0001c0003t0003 a0001c0018t0026 a0002c0005t0010 others(1): Show a0001c0003t0003 a0001c0018t0026 a0002c0005t0010 a0002c0025t0015	a0001c0003t0003g0086 a0001c0003t0003g0089 a0001c0018t0026g0117 others(2): Show a0001c0003t0003g0086 a0001c0003t0003g0089 a0001c0018t0026g0117 a0002c0005t0010g0096 a0002c0025t0015g0002	5	37	0.1351	8	c.748 others(27): Show c.7480-8423_7480-8416dupGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	51/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144732267	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp1 HG03516.hp2 HG01433.hp2 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0051 a0001c0001 a0001c0011 a0001c0051	a0001c0001t0009 a0001c0011t0014 a0001c0051t0009 a0001c0001t0009 a0001c0011t0014 a0001c0051t0009	a0001c0001t0009g0009 a0001c0011t0014g0122 a0001c0051t0009g0005 a0001c0001t0009g0009 a0001c0011t0014g0122 a0001c0051t0009g0005	3	120	0.0250	8	c.793 others(27): Show c.7939+1788_7939+1789insCATATATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	54/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144766787	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02976.hp2 others(4): Show HG01891.hp1 HG02280.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0006 a0001c0039 others(2): Show a0001c0002 a0001c0006 a0001c0039 a0002c0030 a0008c0055	a0001c0002t0005 a0001c0006t0003 a0001c0006t0005 others(3): Show a0001c0002t0005 a0001c0006t0003 a0001c0006t0005 a0001c0039t0022 a0002c0030t0016 a0008c0055t0001	a0001c0002t0005g0112 a0001c0006t0003g0125 a0001c0006t0005g0123 others(4): Show a0001c0002t0005g0112 a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 a0001c0039t0022g0077 a0002c0030t0016g0016 a0008c0055t0001g0007	7	101	0.0693	8	c.849 others(27): Show c.8496-5109_8496-5102dupGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	58/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144819851	T T	TCCTTCTC others(1): Show TCCTTCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02976.hp2 others(6): Show HG02647.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0002 a0001c0006 a0001c0022 others(3): Show a0001c0002 a0001c0006 a0001c0022 a0002c0016 a0008c0055 a0011c0049	a0001c0002t0005 a0001c0006t0003 a0001c0006t0005 others(5): Show a0001c0002t0005 a0001c0006t0003 a0001c0006t0005 a0001c0022t0001 a0002c0016t0001 a0002c0016t0019 a0008c0055t0001 a0011c0049t0001	a0001c0002t0005g0112 a0001c0006t0003g0125 a0001c0006t0005g0123 others(6): Show a0001c0002t0005g0112 a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 a0001c0022t0001g0004 a0002c0016t0001g0015 a0002c0016t0019g0079 a0008c0055t0001g0007 a0011c0049t0001g0067	9	126	0.0714	8	c.935 others(27): Show c.9358-1022_9358-1015dupCCTTCTCC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	65/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144824572	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01981.hp2 HG01884.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0006 a0001c0003t0003 a0001c0008t0006	a0001c0003t0003g0088 a0001c0008t0006g0072 a0001c0003t0003g0088 a0001c0008t0006g0072	2	62	0.0323	8	c.949 others(27): Show c.9495-2742_9495-2735dupATATATAT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	66/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144854226	T T	TATAGATA others(1): Show TATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01981.hp2 others(6): Show HG01109.hp2 HG01123.hp2 HG01981.hp2 HG02615.hp2 HG02895.hp1 HG02922.hp1 HG03453.hp2 HG03490.hp2 HG04199.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0003c0037 a0004c0017 a0004c0019 a0004c0050 a0007c0040	a0001c0001t0025 a0001c0003t0003 a0001c0009t0002 others(6): Show a0001c0001t0025 a0001c0003t0003 a0001c0009t0002 a0001c0009t0011 a0003c0037t0002 a0004c0017t0002 a0004c0019t0002 a0004c0050t0011 a0007c0040t0003	a0001c0001t0025g0115 a0001c0003t0003g0088 a0001c0009t0002g0053 others(6): Show a0001c0001t0025g0115 a0001c0003t0003g0088 a0001c0009t0002g0053 a0001c0009t0011g0081 a0003c0037t0002g0084 a0004c0017t0002g0065 a0004c0019t0002g0057 a0004c0050t0011g0082 a0007c0040t0003g0128	9	47	0.1915	8	c.32 others(19): Show c.3229_*3230insATAGATAG	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding		1193		chr6	TogoVar
UTS2B_chr3_191262168_191335526	191289408	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp2 others(66): Show HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18988.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 others(28): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0024 a0002c0002t0026 a0002c0002t0029 a0002c0002t0034 a0002c0002t0035 a0002c0002t0038 a0002c0002t0046 a0002c0002t0049 a0002c0002t0054 a0002c0002t0063 a0002c0002t0069 a0002c0002t0073 a0002c0002t0074 a0003c0003t0003 a0004c0005t0019	a0001c0001t0011g0280 a0001c0001t0011g0294 a0001c0001t0012g0011 others(61): Show a0001c0001t0011g0280 a0001c0001t0011g0294 a0001c0001t0012g0011 a0001c0001t0012g0069 a0001c0001t0012g0231 a0001c0001t0012g0232 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0012g0242 a0001c0001t0012g0246 a0001c0001t0022g0233 a0001c0001t0022g0234 a0001c0001t0022g0236 a0001c0001t0022g0243 a0001c0001t0022g0251 a0001c0001t0023g0313 a0001c0001t0028g0171 a0001c0001t0042g0192 a0001c0001t0043g0191 a0001c0001t0043g0193 a0002c0002t0002g0378 a0002c0002t0003g0084 a0002c0002t0003g0125 a0002c0002t0003g0145 a0002c0002t0003g0214 a0002c0002t0003g0249 a0002c0002t0008g0136 a0002c0002t0008g0183 a0002c0002t0008g0194 a0002c0002t0008g0216 a0002c0002t0010g0146 a0002c0002t0010g0211 a0002c0002t0014g0320 a0002c0002t0014g0323 a0002c0002t0016g0121 a0002c0002t0016g0122 a0002c0002t0016g0129 a0002c0002t0018g0220 a0002c0002t0019g0006 a0002c0002t0020g0088 a0002c0002t0020g0149 a0002c0002t0020g0199 a0002c0002t0020g0200 a0002c0002t0024g0292 a0002c0002t0026g0007 a0002c0002t0026g0120 a0002c0002t0029g0151 a0002c0002t0029g0152 a0002c0002t0029g0153 a0002c0002t0034g0009 a0002c0002t0035g0157 a0002c0002t0038g0012 a0002c0002t0046g0204 a0002c0002t0049g0068 a0002c0002t0054g0091 a0002c0002t0063g0156 a0002c0002t0069g0335 a0002c0002t0073g0224 a0002c0002t0074g0086 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0150 a0004c0005t0019g0201 a0004c0005t0019g0203	69	338	0.2041	8	c.-12 others(27): Show c.-124-7103_-124-7096dupTATTTATT	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	4/8			chr3	TogoVar
UTS2B_chr3_191262168_191335526	191313845	C C	CTACTCAG others(1): Show CTACTCAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 NA18944.hp1 others(25): Show HG00733.hp2 HG01934.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18985.hp1 NA18992.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0028 a0001c0001t0041 a0001c0001t0058 others(7): Show a0001c0001t0028 a0001c0001t0041 a0001c0001t0058 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0059 a0002c0002t0060 a0007c0007t0003	a0001c0001t0028g0094 a0001c0001t0041g0080 a0001c0001t0041g0108 others(23): Show a0001c0001t0028g0094 a0001c0001t0041g0080 a0001c0001t0041g0108 a0001c0001t0058g0305 a0002c0002t0002g0002 a0002c0002t0002g0135 a0002c0002t0002g0170 a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0002t0002g0248 a0002c0002t0002g0326 a0002c0002t0003g0229 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0008g0169 a0002c0002t0008g0181 a0002c0002t0015g0299 a0002c0002t0015g0302 a0002c0002t0015g0303 a0002c0002t0015g0306 a0002c0002t0015g0307 a0002c0002t0059g0304 a0002c0002t0060g0318 a0007c0007t0003g0182	28	400	0.0700	8	c.-18 others(27): Show c.-182+2190_-182+2191insTCTGAGTA	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	3/8			chr3	TogoVar
UTS2B_chr3_191262168_191335526	191330296	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp1 HG03540.hp2 HG00323.hp2 HG01192.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0001c0001t0040 a0002c0002t0049 a0001c0001t0033 a0001c0001t0040 a0002c0002t0049	a0001c0001t0033g0067 a0001c0001t0040g0066 a0002c0002t0049g0068 a0001c0001t0033g0067 a0001c0001t0040g0066 a0002c0002t0049g0068	3	115	0.0261	8	c.-66 others(25): Show c.-665+110_-665+117dupGTGTGTGT	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	1/8			chr3	TogoVar
UTS2B_chr3_191262168_191335526	191330326	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG04184.hp1 others(3): Show HG02056.hp2 HG02071.hp2 HG04184.hp1 NA18948.hp1 NA19001.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0002c0002t0008 a0002c0002t0021 others(2): Show a0001c0001t0031 a0002c0002t0008 a0002c0002t0021 a0002c0002t0039 a0002c0002t0068	a0001c0001t0031g0024 a0002c0002t0008g0021 a0002c0002t0008g0025 others(3): Show a0001c0001t0031g0024 a0002c0002t0008g0021 a0002c0002t0008g0025 a0002c0002t0021g0022 a0002c0002t0039g0023 a0002c0002t0068g0020	6	358	0.0168	8	c.-66 others(23): Show c.-665+87_-665+88insCTGTGTGT	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	1/8			chr3	TogoVar
UTS2_chr1_7842612_7858065	7857107	T T	TGAAGGAA others(1): Show TGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01884.hp1 others(5): Show HG01081.hp2 HG01109.hp1 HG01884.hp1 HG02280.hp1 HG03017.hp2 HG03688.hp2 HG03710.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0008	8	11	0.7273	8	c.-41 others(19): Show c.-4105_-4104insCTTCCTTC	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4043		chr1	TogoVar
UTY_chrY_13243385_13485033	13326144	A A	AAGATAAA others(1): Show AAGATAAAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0068 a0003c0006t0001g0068	1	124	0.0081	8	c.296 others(23): Show c.2964+76_2964+77insATTTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	19/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13380059	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	106	0.0094	8	c.646 others(27): Show c.646-10711_646-10710insTATATATA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13380061	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02717.hp1 NA18962.hp1 others(2): Show HG02074.hp1 HG02717.hp1 NA18962.hp1 NA18984.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0002t0001g0115	5	54	0.0926	8	c.646 others(27): Show c.646-10720_646-10713dupTATATATA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13380061	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	50	0.0200	8	c.646 others(27): Show c.646-10713_646-10712insTATACACA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13380061	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	50	0.0200	8	c.646 others(27): Show c.646-10713_646-10712insTACACACA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13386092	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19009.hp1 HG02083.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0063 a0001c0001t0001g0065	2	86	0.0233	8	c.645 others(25): Show c.645+7759_645+7766dupAAAAAAAA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446611	T T	TAGACAGA others(1): Show TAGACAGAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	119	0.0084	8	c.375 others(25): Show c.375+2405_375+2406insGTCTGTCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446615	T T	TAGACAGA others(1): Show TAGACAGAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	94	0.0106	8	c.375 others(25): Show c.375+2401_375+2402insGTCTGTCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGACAGA others(1): Show TAGACAGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02717.hp1 HG00280.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0090 a0001c0002t0001g0115 a0001c0001t0001g0090 a0001c0002t0001g0115	2	34	0.0588	8	c.375 others(25): Show c.375+2390_375+2397dupGTCTGTCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(1): Show TAGATAGAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19083.hp1 NA18989.hp1 NA19083.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0005 a0001c0003 a0005c0005	a0001c0003t0001 a0005c0005t0001 a0001c0003t0001 a0005c0005t0001	a0001c0003t0001g0075 a0005c0005t0001g0026 a0001c0003t0001g0075 a0005c0005t0001g0026	2	34	0.0588	8	c.375 others(25): Show c.375+2397_375+2398insGTCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446634	A A	ACAGACAG others(1): Show ACAGACAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18948.hp1 NA18983.hp1 others(5): Show NA18944.hp1 NA18948.hp1 NA18983.hp1 NA18988.hp1 NA19012.hp1 NA19058.hp1 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0101 a0001c0002t0001g0106 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113	8	124	0.0645	8	c.375 others(25): Show c.375+2375_375+2382dupCCTGTCTG	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UVRAG_chr11_75810210_76149232	75831491	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(34): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01106.hp2 HG01256.hp2 HG01975.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02735.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 NA18747.hp1 NA18941.hp2 NA18946.hp1 NA18961.hp1 NA18978.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp2 NA19043.hp1 NA19088.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0005 others(1): Show a0002c0002 a0002c0003 a0003c0005 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0013 a0002c0002t0015 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0031 a0002c0003t0001 a0002c0003t0029 a0003c0005t0012 a0003c0006t0010	a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0094 others(34): Show a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0114 a0002c0002t0003g0112 a0002c0002t0009g0079 a0002c0002t0009g0080 a0002c0002t0013g0097 a0002c0002t0015g0115 a0002c0002t0021g0085 a0002c0002t0022g0099 a0002c0002t0024g0082 a0002c0002t0025g0091 a0002c0002t0027g0105 a0002c0002t0031g0081 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0029g0078 a0003c0005t0012g0113 a0003c0006t0010g0106	37	128	0.2891	8	c.117 others(27): Show c.117+15975_117+15982dupCAAACAAA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75839852	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02622.hp1 others(2): Show HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG03041.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0003 a0002c0002t0006 a0002c0002t0007 others(2): Show a0001c0001t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0014 a0005c0007t0037	a0001c0001t0003g0140 a0002c0002t0006g0124 a0002c0002t0007g0129 others(2): Show a0001c0001t0003g0140 a0002c0002t0006g0124 a0002c0002t0007g0129 a0002c0002t0014g0126 a0005c0007t0037g0125	5	134	0.0373	8	c.118 others(27): Show c.118-12027_118-12020dupTATATATA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75839862	T T	TATATATA others(1): Show TATATATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02976.hp2 others(2): Show HG02109.hp2 HG02572.hp2 HG02976.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0002c0002t0007 others(1): Show a0001c0001t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0014	a0001c0001t0003g0141 a0001c0001t0003g0142 a0002c0002t0006g0128 others(2): Show a0001c0001t0003g0141 a0001c0001t0003g0142 a0002c0002t0006g0128 a0002c0002t0007g0127 a0002c0002t0014g0138	5	98	0.0510	8	c.118 others(27): Show c.118-12020_118-12019insTATATAGA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75866357	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02976.hp2 others(1): Show HG02145.hp2 HG02572.hp1 HG02976.hp2 HG03041.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0007 a0002c0002t0014 a0005c0007t0037 a0002c0002t0007 a0002c0002t0014 a0005c0007t0037	a0002c0002t0007g0127 a0002c0002t0007g0129 a0002c0002t0014g0126 others(1): Show a0002c0002t0007g0127 a0002c0002t0007g0129 a0002c0002t0014g0126 a0005c0007t0037g0125	4	133	0.0301	8	c.270 others(25): Show c.270+4596_270+4603dupTAAATAAA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75884212	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18906.hp2 NA18747.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0001c0011 a0002c0002	a0001c0011t0016 a0002c0002t0002 a0001c0011t0016 a0002c0002t0002	a0001c0011t0016g0132 a0002c0002t0002g0109 a0001c0011t0016g0132 a0002c0002t0002g0109	2	96	0.0208	8	c.432 others(25): Show c.432+4192_432+4199dupCTCTCTCT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75930927	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01074.hp2 others(36): Show HG00140.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01243.hp2 HG01256.hp1 HG01975.hp2 HG02080.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG04204.hp1 NA18906.hp1 NA18954.hp1 NA18978.hp2 NA18999.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19085.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0002 a0004c0010 others(2): Show a0001c0001 a0002c0002 a0004c0010 a0006c0009 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0038 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0014 a0002c0002t0022 a0004c0010t0001 a0006c0009t0012 a0007c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0134 a0001c0001t0002g0136 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0004g0047 a0001c0001t0004g0055 a0001c0001t0005g0063 a0001c0001t0008g0005 a0001c0001t0017g0037 a0001c0001t0023g0146 a0001c0001t0028g0135 a0001c0001t0038g0122 a0002c0002t0001g0083 a0002c0002t0002g0104 a0002c0002t0003g0112 a0002c0002t0006g0128 a0002c0002t0014g0126 a0002c0002t0014g0138 a0002c0002t0022g0099 a0004c0010t0001g0051 a0006c0009t0012g0025 a0007c0008t0001g0011	39	59	0.6610	8	c.593 others(27): Show c.593+18941_593+18948dupTTTCTTTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75932265	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03831.hp2 HG03654.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0092 a0002c0002t0002g0095	2	128	0.0156	8	c.593 others(27): Show c.593+20257_593+20264dupTATTTATT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75949714	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20300.hp2 HG03471.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0035 a0002c0002t0006 a0002c0002t0035	a0002c0002t0006g0119 a0002c0002t0035g0118 a0002c0002t0006g0119 a0002c0002t0035g0118	2	119	0.0168	8	c.594 others(27): Show c.594-11729_594-11728insTACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75950963	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03130.hp2 NA19043.hp2 HG02056.hp1 HG03130.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0025 a0002c0003t0029 a0001c0001t0001 a0002c0002t0025 a0002c0003t0029	a0001c0001t0001g0066 a0002c0002t0025g0091 a0002c0003t0029g0078 a0001c0001t0001g0066 a0002c0002t0025g0091 a0002c0003t0029g0078	3	60	0.0500	8	c.594 others(27): Show c.594-10447_594-10440dupCACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75965304	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02630.hp2 others(5): Show HG01074.hp1 HG01884.hp2 HG02630.hp2 HG02896.hp1 HG02922.hp2 HG03471.hp1 HG06807.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0038 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0038 a0002c0002t0006 a0002c0002t0035 a0002c0002t0036 a0003c0005t0007	a0001c0001t0003g0133 a0001c0001t0004g0053 a0001c0001t0038g0122 others(5): Show a0001c0001t0003g0133 a0001c0001t0004g0053 a0001c0001t0038g0122 a0002c0002t0006g0116 a0002c0002t0006g0119 a0002c0002t0035g0118 a0002c0002t0036g0123 a0003c0005t0007g0117	8	107	0.0748	8	c.699 others(25): Show c.699+3768_699+3775dupTTTATTTA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76053308	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03130.hp2 HG02559.hp1 HG02886.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0028 a0002c0002t0025 a0001c0001t0001 a0001c0001t0028 a0002c0002t0025	a0001c0001t0001g0058 a0001c0001t0028g0135 a0002c0002t0025g0091 a0001c0001t0001g0058 a0001c0001t0028g0135 a0002c0002t0025g0091	3	96	0.0313	8	c.122 others(29): Show c.1227-12374_1227-12367dupCACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76076802	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 HG02572.hp1 others(15): Show HG00558.hp1 HG02145.hp2 HG02572.hp1 HG02630.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03491.hp2 HG03654.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19002.hp2 NA19030.hp2 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0003c0005 a0005c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0011t0016 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0034 a0003c0005t0007 a0005c0007t0037	a0001c0001t0003g0133 a0001c0001t0004g0039 a0001c0001t0004g0042 others(15): Show a0001c0001t0003g0133 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0008g0005 a0001c0001t0018g0139 a0001c0001t0019g0068 a0001c0001t0023g0146 a0001c0011t0016g0132 a0002c0002t0002g0088 a0002c0002t0002g0104 a0002c0002t0006g0116 a0002c0002t0007g0127 a0002c0002t0007g0129 a0002c0002t0034g0137 a0003c0005t0007g0117 a0005c0007t0037g0125	18	76	0.2368	8	c.130 others(29): Show c.1305+11039_1305+11046dupTATTTATT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76110211	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp1 HG02896.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0006	a0001c0001t0003g0133 a0002c0002t0006g0116 a0001c0001t0003g0133 a0002c0002t0006g0116	2	86	0.0233	8	c.130 others(27): Show c.1306-5700_1306-5693dupATATATAT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76140146	T T	TCTCTCTC others(1): Show TCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18990.hp2 HG02896.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0060 a0001c0001t0011g0054 a0001c0001t0002g0060 a0001c0001t0011g0054	2	101	0.0198	8	c.139 others(25): Show c.1398-562_1398-561insTCTCCCTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVSSA_chr4_1342208_1393049	1371256	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19030.hp1 NA19066.hp1 others(2): Show HG04184.hp1 NA19030.hp1 NA19066.hp1 NA19082.hp1 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0010 a0002c0001t0001 a0002c0001t0010	a0002c0001t0001g0106 a0002c0001t0001g0116 a0002c0001t0001g0119 others(2): Show a0002c0001t0001g0106 a0002c0001t0001g0116 a0002c0001t0001g0119 a0002c0001t0001g0156 a0002c0001t0010g0331	5	63	0.0794	8	c.128 others(27): Show c.1289-4080_1289-4073dupGTGTGTGT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UXS1_chr2_106088311_106199301	106143408	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(21): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG02027.hp2 HG02109.hp2 HG02300.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 NA18612.hp1 NA18950.hp2 NA18982.hp1 NA19062.hp2 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267	24	92	0.2609	8	c.472 others(25): Show c.472+1774_472+1781dupTTTTTTTT	UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	6/14			chr2	TogoVar

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