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	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
GALNT5_chr2_157252705_157323491	157262155	ACATAACT others(2): Show ACATAACTGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 NA18906.hp2 HG03130.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0074 a0001c0002t0066 a0001c0002t0072 a0001c0001t0074 a0001c0002t0066 a0001c0002t0072	a0001c0001t0074g0244 a0001c0002t0066g0245 a0001c0002t0072g0246 a0001c0001t0074g0244 a0001c0002t0066g0245 a0001c0002t0072g0246	3	280	0.0107	-9	c.145 others(28): Show c.1454+2624_1454+2632delACTGTCATA		GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT6_chr12_51346252_51396406	51371054	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG01928.hp1 others(2): Show HG00738.hp1 HG01361.hp2 HG01928.hp1 HG02723.hp2 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0012 a0001c0001 a0001c0003 a0004c0012	a0001c0001t0013 a0001c0001t0017 a0001c0003t0015 others(2): Show a0001c0001t0013 a0001c0001t0017 a0001c0003t0015 a0001c0003t0085 a0004c0012t0008	a0001c0001t0013g0050 a0001c0001t0017g0059 a0001c0003t0015g0288 others(2): Show a0001c0001t0013g0050 a0001c0001t0017g0059 a0001c0003t0015g0288 a0001c0003t0085g0388 a0004c0012t0008g0405	5	40	0.1250	-9	c.665 others(26): Show c.665-5484_665-5476delAATAATAAT		GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	4/11						chr12	TogoVar
GALNT7_chr4_173163811_173328967	173225018	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02630.hp1 others(6): Show HG01346.hp2 HG02055.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG03139.hp2 HG03471.hp1 HG04184.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0003c0010	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0003c0010t0003	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0004t0001g0006 others(6): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0004t0001g0006 a0001c0005t0001g0099 a0001c0005t0003g0092 a0001c0005t0003g0095 a0001c0005t0003g0097 a0001c0005t0003g0098 a0003c0010t0003g0096	9	32	0.2813	-9	c.127 others(28): Show c.127-22937_127-22929delAATAATAAT		GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132223001	CCCCACAC others(2): Show CCCCACACAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02735.hp2 HG03017.hp1 others(3): Show HG01243.hp1 HG02735.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0018 others(2): Show a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0001c0041	a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 others(2): Show a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 a0001c0021t0004 a0001c0041t0015	a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 others(3): Show a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0018t0001g0047 a0001c0021t0004g0155 a0001c0041t0015g0178	6	182	0.0330	-9	c.107 others(30): Show c.1078-19320_1078-19312delTTGTGTGGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132224607	ACATACAC others(2): Show ACATACACCC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02717.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02717.hp2 HG02976.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0019 others(1): Show a0001c0001 a0001c0014 a0001c0019 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 others(1): Show a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 others(3): Show a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0019t0003g0145 a0001c0029t0003g0107	6	182	0.0330	-9	c.107 others(30): Show c.1078-20926_1078-20918delGGGTGTATG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151980737	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01516.hp1 NA18942.hp2 others(3): Show HG00558.hp2 HG01516.hp1 NA18942.hp2 NA18954.hp1 NA19011.hp2 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 others(3): Show a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0323 a0003c0003t0001g0242	6	18	0.3333	-9	c.369 others(26): Show c.369-2231_369-2223delTTTTTTTTT		GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151995348	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp1 others(27): Show HG00423.hp2 HG00609.hp1 HG00621.hp1 HG01123.hp1 HG01169.hp1 HG01255.hp1 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG03491.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18965.hp1 NA18975.hp1 NA18991.hp2 NA19064.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0104 a0001c0001t0001g0180 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0104 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0366 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0310 a0001c0001t0002g0375 a0003c0003t0001g0237 a0003c0003t0001g0240	30	165	0.1818	-9	c.659 others(26): Show c.659-7332_659-7324delTTTTTTTTT		GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	172102580	CCAGAGAT others(2): Show CCAGAGATGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp2 HG02258.hp2 others(14): Show HG02015.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0006g0020 a0001c0001t0007g0006 a0001c0001t0009g0024 a0001c0002t0002g0007 a0001c0002t0003g0001 a0001c0004t0002g0038	17	40	0.4250	-9	c.139 others(30): Show c.139-127063_139-127055delAGATGTCAG		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172748880	TTTGTTGT others(2): Show TTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp1 HG02258.hp2 others(4): Show HG02015.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0003t0001g0005	7	23	0.3043	-9	c.554 others(28): Show c.554-60442_554-60434delGTTGTTGTT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172802868	GATTAAGT others(2): Show GATTAAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02647.hp2 HG02723.hp1 others(4): Show HG02015.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG03195.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0003g0019 a0001c0001t0004g0013 a0001c0002t0002g0007	7	40	0.1750	-9	c.554 others(26): Show c.554-6489_554-6481delAAGTAAATT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172934634	AGCACACT others(2): Show AGCACACTGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03195.hp1 HG02735.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0029 a0001c0001t0012g0027 a0001c0001t0001g0029 a0001c0001t0012g0027	2	40	0.0500	-9	c.114 others(28): Show c.1149+3368_1149+3376delCACACTGGG		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77249082	AACGCATC others(2): Show AACGCATCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01255.hp2 others(12): Show HG01106.hp1 HG01168.hp2 HG01255.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp2 HG04115.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0032 a0001c0002t0054 others(6): Show a0001c0002t0031 a0001c0002t0032 a0001c0002t0054 a0001c0002t0055 a0001c0002t0135 a0001c0002t0136 a0001c0002t0137 a0001c0002t0139 a0001c0002t0140	a0001c0002t0031g0144 a0001c0002t0031g0205 a0001c0002t0031g0206 others(10): Show a0001c0002t0031g0144 a0001c0002t0031g0205 a0001c0002t0031g0206 a0001c0002t0032g0006 a0001c0002t0054g0139 a0001c0002t0054g0202 a0001c0002t0055g0216 a0001c0002t0055g0222 a0001c0002t0135g0204 a0001c0002t0136g0225 a0001c0002t0137g0203 a0001c0002t0139g0207 a0001c0002t0140g0214	15	364	0.0412	-9	c.-14 others(20): Show c.-1466_-1458delACGCATCGG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding					765		chr18	TogoVar
GALR1_chr18_77244848_77282900	77259056	GATGGTGG others(2): Show GATGGTGGTC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01069.hp1 others(45): Show HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18940.hp2 NA18947.hp1 NA18953.hp2 NA18966.hp2 NA18968.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18991.hp2 NA19004.hp1 NA19010.hp2 NA19043.hp2 NA19062.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(26): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0056 a0001c0001t0068 a0001c0001t0095 a0001c0001t0106 a0001c0001t0110 a0001c0001t0145 a0001c0001t0148 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0022 a0001c0002t0031 a0001c0002t0047 a0001c0002t0049 a0001c0002t0129 a0001c0002t0135 a0001c0002t0136 a0001c0004t0018 a0001c0004t0064	a0001c0001t0005g0215 a0001c0001t0005g0251 a0001c0001t0005g0260 others(40): Show a0001c0001t0005g0215 a0001c0001t0005g0251 a0001c0001t0005g0260 a0001c0001t0005g0284 a0001c0001t0005g0302 a0001c0001t0005g0321 a0001c0001t0008g0325 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0019g0024 a0001c0001t0019g0234 a0001c0001t0027g0054 a0001c0001t0033g0023 a0001c0001t0033g0238 a0001c0001t0034g0082 a0001c0001t0039g0247 a0001c0001t0041g0125 a0001c0001t0043g0069 a0001c0001t0056g0025 a0001c0001t0068g0122 a0001c0001t0095g0253 a0001c0001t0106g0055 a0001c0001t0110g0071 a0001c0001t0145g0235 a0001c0001t0148g0049 a0001c0002t0002g0004 a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0161 a0001c0002t0002g0210 a0001c0002t0004g0004 a0001c0002t0007g0004 a0001c0002t0007g0140 a0001c0002t0022g0182 a0001c0002t0031g0144 a0001c0002t0047g0189 a0001c0002t0049g0160 a0001c0002t0049g0173 a0001c0002t0129g0240 a0001c0002t0135g0204 a0001c0002t0136g0225 a0001c0004t0018g0312 a0001c0004t0064g0315	48	362	0.1326	-9	c.732 others(26): Show c.732+2850_732+2858delTCATGGTGG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259275	GTGGTGGT others(2): Show GTGGTGGTCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18966.hp2 NA18991.hp2 others(1): Show HG03225.hp2 NA18966.hp2 NA18991.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0143 a0001c0002t0055 a0001c0001t0019 a0001c0001t0143 a0001c0002t0055	a0001c0001t0019g0024 a0001c0001t0143g0237 a0001c0002t0055g0222 a0001c0001t0019g0024 a0001c0001t0143g0237 a0001c0002t0055g0222	4	359	0.0111	-9	c.732 others(26): Show c.732+3069_732+3077delCATGGTGGT		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77264133	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG01361.hp2 others(15): Show HG00639.hp2 HG01168.hp2 HG01361.hp2 HG01952.hp1 HG02129.hp1 HG02293.hp1 HG02647.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 NA18943.hp1 NA18977.hp1 NA18984.hp2 NA18995.hp1 NA19009.hp1 NA19066.hp1 NA19084.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0003c0007	a0001c0001t0097 a0001c0002t0032 a0001c0002t0055 others(6): Show a0001c0001t0097 a0001c0002t0032 a0001c0002t0055 a0003c0005t0012 a0003c0005t0045 a0003c0005t0108 a0003c0005t0109 a0003c0007t0053 a0003c0007t0133	a0001c0001t0097g0274 a0001c0002t0032g0006 a0001c0002t0055g0216 others(13): Show a0001c0001t0097g0274 a0001c0002t0032g0006 a0001c0002t0055g0216 a0001c0002t0055g0222 a0003c0005t0012g0052 a0003c0005t0012g0053 a0003c0005t0012g0062 a0003c0005t0012g0063 a0003c0005t0012g0077 a0003c0005t0045g0050 a0003c0005t0045g0051 a0003c0005t0108g0045 a0003c0005t0109g0041 a0003c0007t0053g0136 a0003c0007t0053g0137 a0003c0007t0133g0198	18	64	0.2813	-9	c.733 others(26): Show c.733-4429_733-4421delAAAAAAAAA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77268542	GCCTCCTC others(2): Show GCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show HG00099.hp1 HG00741.hp1 HG01167.hp1 HG04199.hp2 NA18944.hp2 NA18959.hp1 NA18964.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 others(4): Show a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0147 a0001c0002t0024 a0001c0002t0061 a0001c0002t0134	a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 others(5): Show a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 a0001c0001t0147g0239 a0001c0002t0024g0008 a0001c0002t0024g0035 a0001c0002t0061g0034 a0001c0002t0134g0177	9	281	0.0320	-9	c.733 others(22): Show c.733-23_733-15delCTCCTCCTC		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77271979	GACTGAGG others(2): Show GACTGAGGCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show HG00099.hp1 HG00741.hp1 HG01167.hp1 HG04199.hp2 NA18944.hp2 NA18959.hp1 NA18964.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 others(4): Show a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0147 a0001c0002t0024 a0001c0002t0061 a0001c0002t0134	a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 others(5): Show a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 a0001c0001t0147g0239 a0001c0002t0024g0008 a0001c0002t0024g0035 a0001c0002t0061g0034 a0001c0002t0134g0177	9	364	0.0247	-9	c.30 others(20): Show c.3079_*3087delCTGAGGCCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	3/3				3079	INFO_REALIGN_3_PRIME	chr18	TogoVar
GALT_chr9_34641675_34656035	34644302	TATATATA others(2): Show TATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02970.hp1 HG03540.hp2 others(2): Show HG01257.hp2 HG02970.hp1 HG03540.hp2 NA18952.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	5	181	0.0276	-9	c.-24 others(20): Show c.-2402_-2394delATATATATA		GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding					2372		chr9	TogoVar
GANC_chr15_42268201_42358666	42347183	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00735.hp2 others(26): Show HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01243.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02602.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03486.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18990.hp1 NA20129.hp2 NA20805.hp1	a0003 a0009 a0013 a0003 a0009 a0013	a0003c0003 a0009c0009 a0013c0016 a0003c0003 a0009c0009 a0013c0016	a0003c0003t0005 a0003c0003t0012 a0009c0009t0010 others(1): Show a0003c0003t0005 a0003c0003t0012 a0009c0009t0010 a0013c0016t0005	a0003c0003t0005g0009 a0003c0003t0005g0016 a0003c0003t0005g0110 others(25): Show a0003c0003t0005g0009 a0003c0003t0005g0016 a0003c0003t0005g0110 a0003c0003t0005g0111 a0003c0003t0005g0112 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0115 a0003c0003t0005g0116 a0003c0003t0005g0117 a0003c0003t0005g0118 a0003c0003t0005g0119 a0003c0003t0005g0120 a0003c0003t0005g0121 a0003c0003t0005g0122 a0003c0003t0005g0123 a0003c0003t0005g0124 a0003c0003t0005g0125 a0003c0003t0012g0100 a0003c0003t0012g0101 a0003c0003t0012g0102 a0003c0003t0012g0103 a0009c0009t0010g0058 a0009c0009t0010g0059 a0009c0009t0010g0126 a0009c0009t0010g0127 a0013c0016t0005g0107 a0013c0016t0005g0108	29	260	0.1115	-9	c.230 others(26): Show c.2305-917_2305-909delAAAAAAGAA		GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr15	TogoVar
GANC_chr15_42268201_42358666	42350022	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02965.hp2 others(2): Show HG01243.hp1 HG02572.hp2 HG02965.hp2 HG02976.hp2 HG03225.hp1	a0008 a0008	a0008c0011 a0008c0025 a0008c0011 a0008c0025	a0008c0011t0009 a0008c0025t0009 a0008c0011t0009 a0008c0025t0009	a0008c0011t0009g0017 a0008c0011t0009g0018 a0008c0011t0009g0020 others(2): Show a0008c0011t0009g0017 a0008c0011t0009g0018 a0008c0011t0009g0020 a0008c0011t0009g0021 a0008c0025t0009g0019	5	71	0.0704	-9	c.253 others(26): Show c.2531+544_2531+552delTTTTTTTTT		GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr15	TogoVar
GAP43_chr3_115618510_115726483	115698140	AATATATA others(2): Show AATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(155): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02735.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19072.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0017	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0032 others(155): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0269 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0322 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0347 a0001c0001t0003g0267 a0001c0001t0004g0034 a0001c0001t0004g0113 a0001c0001t0004g0190 a0001c0001t0004g0279 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0006g0038 a0001c0001t0006g0118 a0001c0001t0006g0150 a0001c0001t0007g0033 a0001c0001t0007g0176 a0001c0001t0007g0274 a0001c0001t0012g0301 a0001c0001t0014g0253 a0001c0001t0016g0270 a0001c0001t0018g0331 a0001c0002t0001g0284 a0001c0002t0017g0310	158	293	0.5392	-9	c.628 others(28): Show c.628+21538_628+21546delTTATATATA		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698205	TTATATAA others(2): Show TTATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02647.hp1 others(5): Show HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0187 a0001c0001t0005g0009 a0001c0002t0002g0193 a0001c0002t0002g0225	8	325	0.0246	-9	c.628 others(28): Show c.628+21603_628+21611delAATATATAA		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125286294	GTTGTTTT others(2): Show GTTGTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG03225.hp1 HG01884.hp2 HG02486.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004	3	338	0.0089	-9	c.-14 others(28): Show c.-149-9156_-149-9148delCTTTGTTTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300039	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02258.hp1 others(10): Show HG00423.hp1 HG00673.hp1 HG02258.hp1 HG03195.hp1 HG03209.hp1 NA18950.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp2 NA18995.hp1 NA19007.hp1 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0003t0004 a0001c0003t0018	a0001c0001t0001g0317 a0001c0001t0002g0025 a0001c0001t0002g0027 others(10): Show a0001c0001t0001g0317 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0121 a0001c0001t0005g0334 a0001c0001t0029g0077 a0001c0003t0004g0020 a0001c0003t0018g0131	13	233	0.0558	-9	c.185 others(24): Show c.185+934_185+942delTATATATAT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27						chr9	TogoVar
GAREM1_chr18_32258522_32475882	32291349	AAGGAAAA others(2): Show AAGGAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG01243.hp2 others(17): Show HG00323.hp1 HG01109.hp1 HG01243.hp2 HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0004 a0002c0005 a0002c0006 others(2): Show a0001c0004 a0002c0005 a0002c0006 a0002c0019 a0012c0029	a0001c0004t0001 a0002c0005t0004 a0002c0005t0011 others(7): Show a0001c0004t0001 a0002c0005t0004 a0002c0005t0011 a0002c0005t0023 a0002c0005t0035 a0002c0005t0038 a0002c0006t0004 a0002c0006t0011 a0002c0019t0004 a0012c0029t0004	a0001c0004t0001g0135 a0002c0005t0004g0009 a0002c0005t0004g0038 others(17): Show a0001c0004t0001g0135 a0002c0005t0004g0009 a0002c0005t0004g0038 a0002c0005t0004g0045 a0002c0005t0011g0047 a0002c0005t0011g0065 a0002c0005t0023g0007 a0002c0005t0035g0044 a0002c0005t0038g0048 a0002c0006t0004g0097 a0002c0006t0004g0098 a0002c0006t0004g0149 a0002c0006t0004g0159 a0002c0006t0004g0160 a0002c0006t0004g0176 a0002c0006t0011g0103 a0002c0006t0011g0182 a0002c0019t0004g0058 a0002c0019t0004g0067 a0012c0029t0004g0087	20	190	0.1053	-9	c.394 others(26): Show c.394-3155_394-3147delGTTTTTCCT		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	3/5						chr18	TogoVar
GARIN2_chr14_67184440_67228940	67204904	ATCACAGA others(2): Show ATCACAGATG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0032 a0004c0008t0001g0191 a0004c0008t0001g0032 a0004c0008t0001g0191	3	330	0.0091	-9	c.736 others(16): Show c.736_744delGTCACAGAT	p.Val others(13): Show p.Val246_Asp248del	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	5/8	979/1620	736/1254	246/417		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARNL3_chr9_127259774_127398660	127299321	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0004 a0005c0003 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 a0002c0004t0001 a0005c0003t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0224 a0001c0001t0003g0068 a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0071 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0193 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0287 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0006t0001g0266 a0001c0009t0001g0040 a0002c0004t0001g0157 a0005c0003t0001g0069 a0007c0008t0001g0198	220	298	0.7383	-9	c.219 others(26): Show c.219+8083_219+8091delAAAAAGAAA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34257878	CTTTTTCT others(2): Show CTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01074.hp1 others(35): Show HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0021 a0004c0010t0001 a0001c0001t0001 a0001c0001t0021 a0004c0010t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(35): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0021g0188 a0004c0010t0001g0189	38	324	0.1173	-9	c.-79 others(28): Show c.-796+3279_-796+3287delCTTTTTTTT		GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34301513	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01074.hp1 others(35): Show HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0021 a0004c0010t0001 a0001c0001t0001 a0001c0001t0021 a0004c0010t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(35): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0021g0188 a0004c0010t0001g0189	38	126	0.3016	-9	c.495 others(24): Show c.495+562_495+570delAAAAAAAAA		GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2L3_chr12_100568684_100633288	100579685	GCATGGCG others(2): Show GCATGGCGAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03579.hp1 HG02451.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0178 a0001c0001t0016g0179 a0001c0001t0026g0165 a0001c0001t0016g0178 a0001c0001t0016g0179 a0001c0001t0026g0165	3	400	0.0075	-9	c.-15 others(28): Show c.-152+5906_-152+5914delCGATCATGG		GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS2_chr11_22661611_22818001	22732770	TATCATCA others(2): Show TATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(41): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG01433.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp2 HG03927.hp2 HG04228.hp1 NA18906.hp1 NA18951.hp1 NA18953.hp2 NA18960.hp1 NA18974.hp2 NA18984.hp1 NA18999.hp1 NA19002.hp2 NA19011.hp1 NA19082.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0082 others(41): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0002g0055 a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0204 a0001c0001t0007g0174 a0001c0001t0012g0191 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0033 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0223 a0001c0002t0001g0230 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0002g0032 a0001c0002t0002g0152 a0001c0002t0002g0215 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0135	44	138	0.3188	-9	c.410 others(26): Show c.410-4900_410-4892delTCATCATCA		GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS7_chr17_9905606_10203606	10006316	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01175.hp2 others(4): Show HG01074.hp2 HG01099.hp1 HG01175.hp2 HG02257.hp1 HG02258.hp2 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0026 a0001c0001t0057	a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0002g0113 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0002g0113 a0001c0001t0003g0123 a0001c0001t0009g0037 a0001c0001t0026g0147 a0001c0001t0057g0174	7	75	0.0933	-9	c.304 others(28): Show c.304+13452_304+13460delAAAAAAAAA		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10016751	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 NA18977.hp1 others(1): Show HG00558.hp1 HG00609.hp2 NA18977.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0057 a0001c0001t0002g0131	4	40	0.1000	-9	c.304 others(26): Show c.304+3017_304+3025delATTATTATT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13						chr17	TogoVar
GAS8_chr16_90017680_90049960	90028173	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp2 NA18946.hp1 others(4): Show HG03688.hp1 HG03688.hp2 NA18946.hp1 NA18947.hp1 NA18984.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0007 a0001c0004t0001 a0001c0001t0008 a0001c0002t0007 a0001c0004t0001	a0001c0001t0008g0023 a0001c0001t0008g0234 a0001c0001t0008g0290 others(3): Show a0001c0001t0008g0023 a0001c0001t0008g0234 a0001c0001t0008g0290 a0001c0001t0008g0298 a0001c0002t0007g0179 a0001c0004t0001g0178	7	135	0.0519	-9	c.90+ others(22): Show c.90+472_90+480delTTTTTTTTT		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
GAS8_chr16_90017680_90049960	90045282	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03098.hp1 others(4): Show HG02109.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0002t0013 a0001c0002t0017 others(2): Show a0001c0001t0017 a0001c0002t0013 a0001c0002t0017 a0001c0002t0023 a0001c0003t0027	a0001c0001t0017g0345 a0001c0002t0013g0338 a0001c0002t0013g0339 others(4): Show a0001c0001t0017g0345 a0001c0002t0013g0338 a0001c0002t0013g0339 a0001c0002t0013g0340 a0001c0002t0017g0224 a0001c0002t0023g0319 a0001c0003t0027g0336	7	168	0.0417	-9	c.19 others(20): Show c.1938_*1946delAAAAAAAAA		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding					323		chr16	TogoVar
GATA6_chr18_22164589_22207528	22177944	GTTTTTTT others(2): Show GTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18955.hp1 NA18986.hp2 others(5): Show HG02257.hp1 NA18955.hp1 NA18986.hp2 NA18989.hp1 NA19057.hp1 NA19062.hp2 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0214	8	242	0.0331	-9	c.130 others(26): Show c.1302+831_1302+839delGTTTTTTTT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA6_chr18_22164589_22207528	22197794	CTCCTTCT others(2): Show CTCCTTCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01975.hp2 others(13): Show HG00140.hp2 HG00408.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02148.hp1 HG02300.hp2 HG02683.hp1 HG03710.hp1 NA18747.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0004c0004t0002	a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0179 others(13): Show a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0231 a0001c0001t0002g0023 a0001c0001t0002g0050 a0001c0001t0002g0099 a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0003g0128 a0001c0001t0011g0118 a0004c0004t0002g0023	16	284	0.0563	-9	c.162 others(28): Show c.1621-2860_1621-2852delCCTTCTCAT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD1_chr7_92442482_92465075	92457161	GAAAAAAA others(2): Show GAAAAAAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02895.hp2 HG02965.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0008 a0001c0001t0008 a0002c0002t0008	a0001c0001t0008g0011 a0002c0002t0008g0018 a0002c0002t0008g0060 others(1): Show a0001c0001t0008g0011 a0002c0002t0008g0018 a0002c0002t0008g0060 a0002c0002t0008g0061	7	300	0.0233	-9	c.61 others(18): Show c.611_*619delAAAAAAAAA		GATAD1	ENSG00000157259.8	transcript	ENST00000287957.5	protein_coding	5/5				611	INFO_REALIGN_3_PRIME	chr7	TogoVar
GATAD2A_chr19_19400675_19513932	19411668	CCTCAGCT others(2): Show CCTCAGCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00741.hp2 others(20): Show HG00099.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0042 a0001c0001t0043	a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0127 others(20): Show a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0007g0139 a0001c0001t0024g0144 a0001c0001t0024g0145 a0001c0001t0042g0151 a0001c0001t0043g0138	23	296	0.0777	-9	c.-7+ others(24): Show c.-7+5653_-7+5661delAGCTTTCTC		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19440925	CCTTCCTT others(2): Show CCTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02280.hp2 others(2): Show HG01884.hp2 HG02109.hp2 HG02280.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0014 a0001c0001t0033	a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 others(2): Show a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0033g0080	5	296	0.0169	-9	c.-6- others(26): Show c.-6-24407_-6-24399delTTCTTCCTT		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19440986	TTTCCTTC others(2): Show TTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp1 HG04204.hp1 others(1): Show HG03017.hp2 HG03710.hp1 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0261 a0001c0002t0012g0116 a0001c0002t0012g0117 others(1): Show a0001c0002t0001g0261 a0001c0002t0012g0116 a0001c0002t0012g0117 a0001c0002t0012g0118	4	251	0.0159	-9	c.-6- others(26): Show c.-6-24310_-6-24302delCCTTCCTTC		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GBE1_chr3_81484703_81766645	81501686	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp1 others(24): Show HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02683.hp1 HG02698.hp2 HG02970.hp1 HG03239.hp1 HG03654.hp2 NA18950.hp1 NA18967.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19007.hp2 NA19070.hp1 NA19088.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0013 a0001c0001 a0002c0002 a0006c0013	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0006c0013t0001	a0001c0001t0002g0183 a0001c0001t0005g0280 a0001c0001t0005g0283 others(24): Show a0001c0001t0002g0183 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0016g0176 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0112 a0002c0002t0005g0264 a0002c0002t0009g0003 a0002c0002t0009g0004 a0006c0013t0001g0103	27	64	0.4219	-9	c.193 others(28): Show c.1935-2468_1935-2460delAAAAAAAAA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	14/15						chr3	TogoVar
GBGT1_chr9_133147948_133168914	133160281	TATAATAA others(2): Show TATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(34): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp2 HG02109.hp2 HG02155.hp2 HG02451.hp1 HG02630.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19078.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0009 a0017 a0022	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0002c0010 a0004c0007 a0005c0009 a0009c0015 a0017c0037 a0022c0038	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0012 a0002c0010t0002 a0004c0007t0002 a0005c0009t0003 a0005c0009t0008 a0009c0015t0001 a0017c0037t0003 a0022c0038t0002	a0001c0001t0001g0032 a0002c0002t0002g0021 a0002c0002t0002g0045 others(20): Show a0001c0001t0001g0032 a0002c0002t0002g0021 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0060 a0002c0002t0002g0163 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0178 a0002c0002t0003g0031 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0004t0012g0167 a0002c0010t0002g0169 a0004c0007t0002g0020 a0005c0009t0003g0160 a0005c0009t0003g0164 a0005c0009t0003g0165 a0005c0009t0008g0058 a0009c0015t0001g0052 a0017c0037t0003g0166 a0022c0038t0002g0175	37	56	0.6607	-9	c.137 others(26): Show c.137+1177_137+1185delTATTATTAT		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6						chr9	TogoVar
GBP4_chr1_89176144_89203942	89197463	ATAAAATT others(2): Show ATAAAATTTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02622.hp1 others(11): Show HG01109.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0011 a0003c0003t0018 a0003c0003t0005 a0003c0003t0011 a0003c0003t0018	a0003c0003t0005g0011 a0003c0003t0005g0017 a0003c0003t0011g0014 others(1): Show a0003c0003t0005g0011 a0003c0003t0005g0017 a0003c0003t0011g0014 a0003c0003t0018g0030	14	400	0.0350	-9	c.41- others(22): Show c.41-168_41-160delGAAATTTTA		GBP4	ENSG00000162654.9	transcript	ENST00000355754.7	protein_coding	1/10						chr1	TogoVar
GCC2_chr2_108444206_108514415	108462542	GTCACAAA others(2): Show GTCACAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18950.hp1 NA18994.hp2 HG00323.hp2 NA18950.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0049 a0001c0002t0001g0067 a0001c0002t0008g0021 a0001c0002t0001g0049 a0001c0002t0001g0067 a0001c0002t0008g0021	3	274	0.0109	-9	c.217 others(26): Show c.217-6437_217-6429delTCACAAAGA		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22						chr2	TogoVar
GCFC2_chr2_75657705_75715915	75708501	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18947.hp1 NA18948.hp1 others(6): Show HG03041.hp1 NA18947.hp1 NA18948.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19064.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0023 a0002c0002t0003 a0002c0002t0023	a0002c0002t0003g0006 a0002c0002t0003g0031 a0002c0002t0023g0120 a0002c0002t0003g0006 a0002c0002t0003g0031 a0002c0002t0023g0120	9	147	0.0612	-9	c.266 others(26): Show c.266-1859_266-1851delAAAAAAAAA		GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	1/16						chr2	TogoVar
GCH1_chr14_54837017_54907826	54838242	AAAAAAAA others(2): Show AAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show HG00323.hp2 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0280	6	344	0.0174	-9	c.57 others(20): Show c.5766_*5774delCTTTTTTTT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding					3774		chr14	TogoVar
GCH1_chr14_54837017_54907826	54880630	CCATATAT others(2): Show CCATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19240.hp2 NA21309.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283	3	344	0.0087	-9	c.344 others(28): Show c.344-15203_344-15195delATATATATG		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54883371	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp2 others(42): Show HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18961.hp2 NA18980.hp2 NA19009.hp1 NA19043.hp2 NA19062.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0180 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0181 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0046 a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0008g0300 a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0014g0184 a0001c0001t0014g0191 a0001c0001t0022g0030	45	146	0.3082	-9	c.344 others(28): Show c.344-17944_344-17936delTTTTTTTTT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(2): Show CTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp1 others(20): Show HG00423.hp2 HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01257.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp1 HG02293.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03579.hp1 HG03831.hp2 HG04204.hp1 NA18944.hp2 NA18970.hp1 NA18984.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0303 others(20): Show a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0085 a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0002g0276 a0001c0001t0002g0304 a0001c0001t0003g0110 a0001c0001t0003g0179 a0001c0001t0012g0358 a0001c0001t0013g0359 a0001c0001t0013g0360 a0001c0001t0017g0072	23	183	0.1257	-9	c.45+ others(26): Show c.45+14046_45+14054delAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar

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