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
RIMBP2_chr12_130391133_130721299	130564001	CCCTGCTG others(107): Show CCCTGCTGTTCCTATACAAGTCAGGCAGTCCCAGTCCCAGGGCCCTTGCA CCTCTCTCTGTCCCCTCTTCCTCTTCTCCCAGGTGCCCACGTGGCTAACT CCCCCACCCTTCAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(47): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0032 a0001c0036 a0001c0043 a0001c0044 a0001c0048 a0001c0049 a0002c0009 a0002c0010 a0002c0014 a0002c0016 a0002c0023 a0002c0029 a0002c0033 a0002c0034 a0003c0039 a0003c0040 a0003c0041 a0004c0012 a0005c0015 a0006c0017 a0007c0018 a0008c0013 a0009c0031 a0010c0045 a0011c0035 a0012c0052 a0013c0038 a0014c0050 a0015c0046 a0016c0051 a0017c0047 a0018c0037 a0019c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0009 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0032t0001 a0001c0036t0001 a0001c0043t0001 a0001c0044t0001 a0001c0048t0001 a0001c0049t0001 a0002c0009t0001 a0002c0010t0001 a0002c0014t0002 a0002c0016t0001 a0002c0023t0001 a0002c0029t0001 a0002c0033t0008 a0002c0034t0003 a0003c0039t0001 a0003c0040t0001 a0003c0041t0003 a0004c0012t0002 a0005c0015t0001 a0006c0017t0001 a0007c0018t0001 a0008c0013t0003 a0009c0031t0002 a0010c0045t0001 a0011c0035t0001 a0012c0052t0001 a0013c0038t0001 a0014c0050t0001 a0015c0046t0004 a0016c0051t0003 a0017c0047t0001 a0018c0037t0001 a0019c0042t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0022 others(166): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0002g0008 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0126 a0001c0001t0005g0006 a0001c0001t0005g0078 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0002t0002g0007 a0001c0002t0002g0017 a0001c0002t0002g0034 a0001c0002t0002g0044 a0001c0002t0002g0060 a0001c0003t0001g0010 a0001c0003t0001g0048 a0001c0003t0001g0058 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0116 a0001c0003t0001g0130 a0001c0003t0001g0136 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0001g0154 a0001c0003t0001g0163 a0001c0003t0002g0079 a0001c0003t0006g0173 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0020 a0001c0004t0001g0041 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0002g0003 a0001c0004t0002g0115 a0001c0005t0001g0032 a0001c0005t0001g0045 a0001c0005t0001g0047 a0001c0005t0001g0085 a0001c0005t0001g0099 a0001c0005t0001g0111 a0001c0005t0001g0129 a0001c0005t0001g0165 a0001c0005t0009g0157 a0001c0006t0001g0009 a0001c0006t0001g0033 a0001c0006t0001g0039 a0001c0006t0001g0042 a0001c0006t0001g0061 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0006t0001g0081 a0001c0007t0001g0024 a0001c0007t0001g0038 a0001c0007t0001g0132 a0001c0007t0001g0149 a0001c0007t0001g0160 a0001c0007t0001g0164 a0001c0008t0001g0070 a0001c0008t0001g0137 a0001c0008t0001g0140 a0001c0008t0001g0153 a0001c0008t0001g0176 a0001c0011t0001g0109 a0001c0011t0001g0125 a0001c0011t0001g0159 a0001c0019t0001g0023 a0001c0019t0001g0089 a0001c0020t0001g0118 a0001c0020t0001g0134 a0001c0021t0001g0014 a0001c0021t0001g0043 a0001c0022t0001g0101 a0001c0024t0001g0170 a0001c0025t0001g0071 a0001c0027t0001g0057 a0001c0028t0001g0114 a0001c0032t0001g0026 a0001c0036t0001g0094 a0001c0043t0001g0108 a0001c0044t0001g0067 a0001c0048t0001g0011 a0001c0049t0001g0169 a0002c0009t0001g0100 a0002c0009t0001g0147 a0002c0009t0001g0174 a0002c0010t0001g0027 a0002c0010t0001g0122 a0002c0010t0001g0131 a0002c0010t0001g0172 a0002c0014t0002g0105 a0002c0016t0001g0143 a0002c0023t0001g0016 a0002c0029t0001g0012 a0002c0033t0008g0166 a0002c0034t0003g0133 a0003c0039t0001g0144 a0003c0040t0001g0171 a0003c0041t0003g0068 a0004c0012t0002g0096 a0004c0012t0002g0178 a0005c0015t0001g0066 a0005c0015t0001g0139 a0006c0017t0001g0055 a0006c0017t0001g0056 a0007c0018t0001g0059 a0008c0013t0003g0135 a0008c0013t0003g0175 a0009c0031t0002g0097 a0010c0045t0001g0035 a0011c0035t0001g0102 a0012c0052t0001g0123 a0013c0038t0001g0090 a0014c0050t0001g0104 a0015c0046t0004g0167 a0016c0051t0003g0093 a0017c0047t0001g0013 a0018c0037t0001g0002 a0019c0042t0001g0120	169	177	0.9548	-114	c.-21 others(21): Show c.-216-46198_-216-46085del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130564062	CCCCTCTT others(107): Show CCCCTCTTCCTCTTCTCCCAGGTGCCCACGTGGCTAACTCCCCCACCCTT CAGGCCTGCTGTTCCTATACAAGTCAGGCAGTCCCAGTCCCAGGGCCCTT GCACCTCTCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0052 a0007c0018t0001g0052	1	176	0.0057	-114	c.-21 others(21): Show c.-216-46259_-216-46146del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	288619	CCTCTCTC others(107): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	121	0.0083	-114	c.352 others(17): Show c.352-6879_352-6766del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL26_chr17_8372516_8388193	8373616	CGTCTCTG others(107): Show CGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTGTGCCC GGCCGCCCAGTCTGGGAAGTGAGGAGCCTCTTCCCGGCCGCCATCCCGTC TGGGAAGTGAGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02615.hp2 others(4): Show HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	7	420	0.0167	-114	c.38 others(11): Show c.3834_*3947del	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		3899		chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477110	CTCCACAG others(107): Show CTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	403	0.0025	-114	c.727 others(14): Show c.727+67_727+180del	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477111	TCCACAGC others(107): Show TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG01517.hp2 others(4): Show HG00639.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02886.hp1 NA18939.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0223 a0001c0001t0004g0292 a0001c0001t0005g0030 others(3): Show a0001c0001t0001g0223 a0001c0001t0004g0292 a0001c0001t0005g0030 a0001c0001t0005g0319 a0001c0001t0006g0156 a0001c0002t0001g0068	7	291	0.0241	-114	c.727 others(14): Show c.727+66_727+179del	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTEL1_chr20_63653312_63701245	63670328	GCCAAGAT others(107): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0044 a0001c0001t0001g0049	2	58	0.0345	-114	c.700 others(17): Show c.700-2222_700-2109del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTN1_chr14_59590983_59875776	59749547	TTATATAG others(107): Show TTATATAGATATCTATATATAGATATATATATATAGATATTTATATATAT ATCTATCTATATATATTTATATAGATATCTATATATAGATATCTATATAT ATTTATATAGATATC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02717.hp2 HG03195.hp2 others(18): Show HG01358.hp1 HG02717.hp2 HG03195.hp2 HG03540.hp1 NA18906.hp2 NA18964.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0007c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0111 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0003g0007 a0002c0002t0003g0128 a0002c0002t0003g0129 a0007c0009t0001g0171	21	169	0.1243	-114	c.242 others(17): Show c.242-3180_242-3067del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SARDH_chr9_133658560_133743352	133668820	CACCCTCC others(107): Show CACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCT CCTTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0061 a0003c0061	a0003c0061t0001 a0003c0061t0001	a0003c0061t0001g0223 a0003c0061t0001g0223	1	257	0.0039	-114	c.249 others(19): Show c.2495+1650_2495+1763del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669011	CCCTTACC others(107): Show CCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04204.hp2 HG03834.hp2 HG04204.hp2	a0002 a0002	a0002c0004 a0002c0014 a0002c0004 a0002c0014	a0002c0004t0001 a0002c0014t0001 a0002c0004t0001 a0002c0014t0001	a0002c0004t0001g0011 a0002c0014t0001g0228 a0002c0004t0001g0011 a0002c0014t0001g0228	2	259	0.0077	-114	c.249 others(19): Show c.2495+1459_2495+1572del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	TTACAGTA others(107): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02895.hp2 others(1): Show HG02109.hp2 HG02818.hp1 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0065 others(1): Show a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0065 a0001c0001t0010g0066	4	185	0.0216	-114	c.632 others(17): Show c.632+8199_632+8312del	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(107): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01346.hp2 HG02129.hp1 others(6): Show HG00408.hp1 HG01346.hp2 HG02129.hp1 HG02615.hp1 HG02970.hp1 HG03579.hp1 NA18947.hp1 NA18983.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0209 a0001c0001t0003g0006 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0209 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238	9	303	0.0297	-114	c.-47 others(11): Show c.-4725_-4612del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288592	TGTCTCTG others(107): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	288	0.0035	-114	c.166 others(17): Show c.1662+572_1662+685del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289006	TCTGCTCC others(107): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0157 a0005c0011t0001g0157	1	272	0.0037	-114	c.166 others(18): Show c.1662+987_1662+1100del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289053	TCCCGTGT others(107): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18969.hp2 NA18998.hp2 NA18964.hp2 NA18969.hp2 NA18998.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0053 a0003c0004t0003g0135 a0003c0004t0003g0153 a0002c0002t0001g0053 a0003c0004t0003g0135 a0003c0004t0003g0153	3	269	0.0112	-114	c.166 others(19): Show c.1662+1041_1663-1080del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708269	CACCTCCA others(107): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGT CCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCC CACCAGGCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0007 a0002c0041t0007	a0002c0041t0007g0108 a0002c0041t0007g0108	1	17	0.0588	-114	c.713 others(19): Show c.713+66507_713+66620del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGTA_chr19_2749715_2788273	2777271	AGGCGCAG others(107): Show AGGCGCAGTGGCTCACACCTGTGATCCCAGCAGCACTTCGGGAGGCCAAA GCGGGGGGATCACTTGAGCATAGGAATTCAAGAGCAGCCTGGGCAACATA GGGAGACCCCATCTC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0312 a0001c0003t0001g0312	1	389	0.0026	-114	c.-24 others(17): Show c.-24+5848_-24+5961del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH3RF3_chr2_109124205_109509634	109199396	AATGGAAT others(107): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG ATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0077 a0001c0003t0020g0077	1	172	0.0058	-114	c.573 others(19): Show c.573+69384_573+69497del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHOX_chrX_625791_656584	628682	TCTGTCTG others(107): Show TCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TCTGTTTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATC TCTCCCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	187	0.0053	-114	c.-22 others(11): Show c.-2215_-2102del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2108		chrX	TogoVar
SHOX_chrX_625791_656584	628893	ATCTCCAT others(107): Show ATCTCCATCTCTCTGTCTCTCCCTTTCTCTCTCTCTGTCTCTCCCTCTCT CTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCC CTGTGTGTTTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(48): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01123.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02523.hp2 HG02683.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp1 HG03486.hp2 HG03831.hp1 HG04184.hp1 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18975.hp2 NA18988.hp1 NA18991.hp1 NA18998.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19090.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0066 a0001c0001t0077 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0091 a0001c0001t0100 a0001c0001t0108 a0001c0001t0118 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0128 a0001c0001t0131 a0001c0001t0135 a0001c0001t0136 a0001c0001t0140 a0001c0001t0151 a0001c0001t0157 a0001c0001t0158 a0001c0001t0173 a0001c0001t0174	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0002g0092 others(47): Show a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0002g0092 a0001c0001t0003g0095 a0001c0001t0003g0154 a0001c0001t0003g0187 a0001c0001t0004g0002 a0001c0001t0004g0190 a0001c0001t0006g0003 a0001c0001t0008g0116 a0001c0001t0010g0112 a0001c0001t0010g0179 a0001c0001t0011g0105 a0001c0001t0011g0153 a0001c0001t0013g0002 a0001c0001t0016g0115 a0001c0001t0017g0197 a0001c0001t0021g0198 a0001c0001t0024g0068 a0001c0001t0031g0093 a0001c0001t0032g0091 a0001c0001t0037g0167 a0001c0001t0044g0160 a0001c0001t0045g0097 a0001c0001t0048g0110 a0001c0001t0049g0100 a0001c0001t0050g0111 a0001c0001t0066g0122 a0001c0001t0077g0178 a0001c0001t0079g0103 a0001c0001t0083g0150 a0001c0001t0084g0196 a0001c0001t0086g0106 a0001c0001t0091g0129 a0001c0001t0100g0096 a0001c0001t0108g0003 a0001c0001t0118g0151 a0001c0001t0123g0183 a0001c0001t0125g0102 a0001c0001t0126g0162 a0001c0001t0128g0140 a0001c0001t0131g0188 a0001c0001t0135g0109 a0001c0001t0136g0107 a0001c0001t0140g0139 a0001c0001t0151g0132 a0001c0001t0157g0168 a0001c0001t0158g0184 a0001c0001t0173g0074 a0001c0001t0174g0128	51	124	0.4113	-114	c.-20 others(11): Show c.-2004_-1891del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		1897		chrX	TogoVar
SLC39A14_chr8_22362278_22427736	22396416	GGGGGGGA others(107): Show GGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG03098.hp2 HG02486.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0012 a0001c0004t0001 a0001c0004t0012	a0001c0004t0001g0047 a0001c0004t0001g0052 a0001c0004t0012g0043 a0001c0004t0001g0047 a0001c0004t0001g0052 a0001c0004t0012g0043	3	315	0.0095	-114	c.-15 others(17): Show c.-15-8278_-15-8165del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396418	GGGGGAGA others(107): Show GGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAG AGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0315 a0001c0011t0014g0315	1	269	0.0037	-114	c.-15 others(17): Show c.-15-8273_-15-8160del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919845	GGAGGAGA others(107): Show GGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp2 HG01361.hp2 others(6): Show HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02280.hp2 HG02293.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0263 a0001c0001t0006g0008 a0001c0001t0006g0242 others(5): Show a0001c0001t0001g0263 a0001c0001t0006g0008 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0008g0261 a0001c0001t0008g0262	9	301	0.0299	-114	c.392 others(15): Show c.392-559_392-446del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920532	GAGGAGAG others(107): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19003.hp2 NA18963.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0176 a0001c0001t0004g0026 a0001c0001t0004g0176	2	344	0.0058	-114	c.392 others(17): Show c.392-1246_392-1133del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921067	TGAGGAGA others(107): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0177 a0001c0001t0010g0177	1	333	0.0030	-114	c.392 others(17): Show c.392-1781_392-1668del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921078	AGGAACCG others(107): Show AGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGA GAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTC AGAGGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	323	0.0031	-114	c.392 others(17): Show c.392-1792_392-1679del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921296	GAGGAGAG others(107): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	349	0.0029	-114	c.392 others(17): Show c.392-2010_392-1897del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921640	TGAGGAGA others(107): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01934.hp2 others(5): Show HG01346.hp2 HG01361.hp2 HG01934.hp2 HG02280.hp2 HG03471.hp2 HG03492.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0183 a0001c0001t0006g0008 a0001c0001t0006g0242 others(4): Show a0001c0001t0001g0183 a0001c0001t0006g0008 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0246 a0001c0001t0009g0181	8	338	0.0237	-114	c.392 others(17): Show c.392-2354_392-2241del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLF1_chr5_94613669_94702621	94658832	TATTTCAA others(107): Show TATTTCAAAAGACCTGTCTTCATGTTTAGAAATAGTTTCTTTTGCTTGAT CTAGTCTATTGCTGAAGCTCTCTGTTATATATTTTTTTTCATTCATTGAA TTCTTAAGTTCCAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(15): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01106.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0002c0002 a0004c0007 a0001c0008 a0002c0002 a0004c0007	a0001c0008t0006 a0002c0002t0002 a0002c0002t0008 others(2): Show a0001c0008t0006 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0004c0007t0009	a0001c0008t0006g0156 a0002c0002t0002g0234 a0002c0002t0002g0240 others(14): Show a0001c0008t0006g0156 a0002c0002t0002g0234 a0002c0002t0002g0240 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0008g0015 a0002c0002t0008g0244 a0002c0002t0008g0283 a0002c0002t0009g0238 a0002c0002t0009g0239 a0004c0007t0009g0243	18	362	0.0497	-114	c.115 others(19): Show c.1156-3232_1156-3119del	SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLIT2_chr4_20246905_20625561	20472352	AGATATCT others(107): Show AGATATCTATATAGATATCTATATCTATATATATGTAGATATATAGATAT AGATATCTATATATCTATATATATAGATATCTATAGATATATATCTATAT AGATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0189 a0001c0001t0010g0189	1	228	0.0044	-114	c.467 others(17): Show c.467+4530_467+4643del	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SLX9_chr21_44935029_44981973	44981592	GCCCTGCA others(107): Show GCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCT GGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCG GGGCCCGGACGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	331	0.0030	-114	c.47 others(11): Show c.4790_*4903del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4620		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850451	TTATATAT others(107): Show TTATATATTATACATAATATATATTATATATTATATATTATGTATAATAT ATGTTATATATATAATATATATTATGTATAATATATGTTATATATATAAT ATATATTATGTATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0244 a0001c0001t0244	a0001c0001t0244g0008 a0001c0001t0244g0008	1	275	0.0036	-114	c.784 others(15): Show c.784+709_784+822del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168614174	GGGGCCTC others(107): Show GGGGCCTCTTCACACCTACAGCCAGCACAGAGCCTCTTCACACCTACAGC CAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTTATA CCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	178	0.0056	-114	c.907 others(17): Show c.907+5965_907+6078del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614516	GGCCTCTT others(107): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACA CCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	177	0.0056	-114	c.907 others(17): Show c.907+6279_907+6392del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614775	GCCTCTTC others(107): Show GCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAG CACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTAC AGCCAGCACAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	177	0.0056	-114	c.907 others(17): Show c.907+6565_907+6678del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246071783	GTAGTTCT others(107): Show GTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACT GTCGCTGCATCGTGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00735.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0021 a0001c0001t0001g0092 a0001c0001t0002g0021	2	131	0.0153	-114	c.532 others(21): Show c.532-141960_532-141847del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1342275	TGCTCTGT others(107): Show TGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02300.hp2 HG02965.hp2 others(1): Show HG00735.hp1 HG02300.hp2 HG02965.hp2 NA18522.hp2	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0008 a0006c0028 a0012c0019 a0003c0008 a0006c0028 a0012c0019	a0003c0008t0001 a0006c0028t0001 a0012c0019t0001 a0003c0008t0001 a0006c0028t0001 a0012c0019t0001	a0003c0008t0001g0096 a0003c0008t0001g0105 a0006c0028t0001g0127 others(1): Show a0003c0008t0001g0096 a0003c0008t0001g0105 a0006c0028t0001g0127 a0012c0019t0001g0157	4	153	0.0261	-114	c.148 others(21): Show c.1489-25052_1489-24939del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342291	AGCAGCTT others(107): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0001 a0004c0014t0002 a0001c0002t0001 a0004c0014t0002	a0001c0002t0001g0141 a0004c0014t0002g0001 a0001c0002t0001g0141 a0004c0014t0002g0001	2	122	0.0164	-114	c.148 others(21): Show c.1489-24989_1489-24876del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342354	GGCACTTT others(107): Show GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0010 a0006c0010t0001g0010	1	89	0.0112	-114	c.148 others(21): Show c.1489-24976_1489-24863del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342581	GGCACTTT others(107): Show GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0016 a0001c0002 a0007c0016	a0001c0002t0001 a0007c0016t0001 a0001c0002t0001 a0007c0016t0001	a0001c0002t0001g0041 a0007c0016t0001g0005 a0001c0002t0001g0041 a0007c0016t0001g0005	2	103	0.0194	-114	c.148 others(21): Show c.1489-24711_1489-24598del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342860	GGCAGCTT others(107): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG02148.hp2 others(1): Show HG00642.hp2 HG01257.hp1 HG02148.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0179 a0001c0001t0001g0187	4	164	0.0244	-114	c.148 others(21): Show c.1489-24420_1489-24307del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342923	CGCACTTT others(107): Show CGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0001 a0004c0014t0002g0001	1	139	0.0072	-114	c.148 others(21): Show c.1489-24369_1489-24256del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342974	AGCAGCTT others(107): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	88	0.0114	-114	c.148 others(21): Show c.1489-24306_1489-24193del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343315	GGCAGCTT others(107): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0153 a0005c0015t0001g0153	1	174	0.0057	-114	c.148 others(21): Show c.1489-23914_1489-23801del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343995	AGCAGCTT others(107): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	122	0.0082	-114	c.148 others(21): Show c.1489-23285_1489-23172del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344859	TCCCCTGT others(107): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0153 a0005c0015t0001g0153	1	120	0.0083	-114	c.148 others(21): Show c.1489-22442_1489-22329del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345086	TCCCCTGT others(107): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	146	0.0068	-114	c.148 others(21): Show c.1489-22215_1489-22102del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345128	GGCAGCTT others(107): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp1 HG01261.hp2 others(9): Show HG01099.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG02976.hp2 HG03710.hp1 NA18942.hp2 NA18968.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp2 NA20129.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0009 a0021	a0001c0001 a0003c0007 a0003c0008 others(4): Show a0001c0001 a0003c0007 a0003c0008 a0006c0009 a0008c0011 a0009c0012 a0021c0027	a0001c0001t0001 a0003c0007t0001 a0003c0008t0001 others(4): Show a0001c0001t0001 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0008c0011t0001 a0009c0012t0001 a0021c0027t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0003c0007t0001g0019 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0003c0007t0001g0019 a0003c0007t0001g0080 a0003c0008t0001g0044 a0006c0009t0001g0093 a0008c0011t0001g0004 a0008c0011t0001g0135 a0008c0011t0001g0182 a0008c0011t0001g0188 a0009c0012t0001g0091 a0021c0027t0001g0136	12	140	0.0857	-114	c.148 others(21): Show c.1489-22152_1489-22039del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345199	TCCCCCTG others(107): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0104 a0003c0007t0001g0104	1	175	0.0057	-114	c.148 others(21): Show c.1489-22139_1489-22026del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345309	CTTTCCCC others(107): Show CTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG02970.hp1 HG00735.hp1 HG01257.hp2 HG02970.hp1	a0003 a0018 a0003 a0018	a0003c0008 a0018c0035 a0003c0008 a0018c0035	a0003c0008t0001 a0018c0035t0001 a0003c0008t0001 a0018c0035t0001	a0003c0008t0001g0059 a0003c0008t0001g0096 a0018c0035t0001g0071 a0003c0008t0001g0059 a0003c0008t0001g0096 a0018c0035t0001g0071	3	85	0.0353	-114	c.148 others(21): Show c.1489-21988_1489-21875del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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