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
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(206): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19080.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0008 a0012 a0014 a0015 a0016 a0018	a0001c0001 a0001c0003 a0001c0011 others(10): Show a0001c0001 a0001c0003 a0001c0011 a0001c0021 a0001c0026 a0004c0005 a0005c0008 a0008c0009 a0012c0019 a0014c0017 a0015c0025 a0016c0015 a0018c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0003t0002 a0001c0003t0006 a0001c0011t0003 a0001c0021t0001 a0001c0026t0001 a0004c0005t0001 a0004c0005t0016 a0005c0008t0007 a0008c0009t0004 a0012c0019t0004 a0014c0017t0001 a0015c0025t0007 a0016c0015t0001 a0018c0020t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0061 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0065 a0001c0001t0004g0074 a0001c0001t0004g0084 a0001c0001t0004g0118 a0001c0001t0007g0028 a0001c0001t0007g0113 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0046 a0001c0001t0010g0023 a0001c0001t0011g0045 a0001c0001t0012g0153 a0001c0001t0018g0005 a0001c0001t0019g0070 a0001c0003t0002g0123 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0137 a0001c0003t0002g0143 a0001c0003t0006g0144 a0001c0011t0003g0239 a0001c0021t0001g0094 a0001c0026t0001g0066 a0004c0005t0001g0169 a0004c0005t0001g0170 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0175 a0004c0005t0016g0174 a0005c0008t0007g0020 a0005c0008t0007g0021 a0008c0009t0004g0001 a0008c0009t0004g0032 a0012c0019t0004g0054 a0014c0017t0001g0027 a0015c0025t0007g0018 a0016c0015t0001g0008 a0018c0020t0004g0079	145	242	0.5992	213	c.249 others(232): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCAGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(206): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCCCCAG TCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCCCCAGGCCCTGCCCCACC TCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02615.hp2 others(3): Show HG02145.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02976.hp1 HG03041.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0014 a0052	a0001c0002 a0002c0018 a0012c0079 others(2): Show a0001c0002 a0002c0018 a0012c0079 a0014c0040 a0052c0094	a0001c0002t0018 a0001c0002t0049 a0002c0018t0027 others(3): Show a0001c0002t0018 a0001c0002t0049 a0002c0018t0027 a0012c0079t0027 a0014c0040t0021 a0052c0094t0018	a0001c0002t0018g0156 a0001c0002t0049g0101 a0002c0018t0027g0244 others(3): Show a0001c0002t0018g0156 a0001c0002t0049g0101 a0002c0018t0027g0244 a0012c0079t0027g0248 a0014c0040t0021g0249 a0052c0094t0018g0020	6	294	0.0204	213	c.426 others(230): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCT TCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCCCCAGGC CCTGCCCCACCTCCCTCCCTCCATTCCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXN3_chr14_89151177_89422233	89361741	A A	AGCACCAC others(206): Show AGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTC CACCACTACCACCTCCACCACCACCACCTCCAGCACCACCACCTCCAGCA CCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACC TCCACCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCAC CTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0075 a0001c0001t0017g0075	1	230	0.0044	213	c.544 others(232): Show c.544-10934_544-10933insAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGT GGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGG TGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTAGTGGTGGAGGTGGTGGTG GTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAK_chr4_844277_937316	927418	G G	GTCCGCAC others(206): Show GTCCGCACCCCTCCCCGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTC CCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCCTCCCGGCTCACCTG CAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGC CCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCC CCGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	390	0.0026	213	c.145 others(230): Show c.145+4624_145+4625insGCGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGA GGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCGGGGAGGGGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALR1_chr18_77244848_77282900	77259162	G G	GGTGATGG others(206): Show GGTGATGGTGGTGGTGGTCATGTGATGGTGGTGCTGGTGATGGTGGTGAT GGTGACGATGGTTATGGTGGTGATGATGGCAATTGTGATAGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGCTGGTGATG GTGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGAT GGTGGTGGGCGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04199.hp2 HG00099.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0136 a0001c0002t0061 a0001c0002t0136	a0001c0002t0061g0021 a0001c0002t0136g0163 a0001c0002t0061g0021 a0001c0002t0136g0163	2	366	0.0055	213	c.732 others(230): Show c.732+2939_732+2940insGTGATGGTGGTGGTGGTCATGTGATGGT GGTGCTGGTGATGGTGGTGATGGTGACGATGGTTATGGTGGTGATGATGG CAATTGTGATAGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCATA GTGGTGGTGGTGCTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGAT GATGGTGGTCATAGTGGTGATGGTGGTGGGCGGTA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(206): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATG GGGAGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAGTGGGGGGAGGAG GAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAAGATGGGGAGGA GGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	143	0.0070	213	c.590 others(230): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCCACTCCC CCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GHDC_chr17_42184087_42199494	42198929	A A	AACATGGT others(206): Show AACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAAATTAGCTGGG TGTGGTGGTGGGCGCCTGCAGTCCCAGCTACTCAAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCC ACTGCACTACAGCCTGGGGGACAGAGCCAGGCTCCCTCTCAAAAAAAAAA GAAAAGTAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0042 a0010c0014t0001g0042	1	374	0.0027	213	c.-46 others(224): Show c.-4635_-4634insCTTTTTTACTTTTCTTTTTTTTTTGAGAGGGAGC CTGGCTCTGTCCCCCAGGCTGTAGTGCAGTGGCACAATCTTGGCTCACTG CAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTTGAG TAGCTGGGACTGCAGGCGCCCACCACCACACCCAGCTAATTTTTTTGTAT TTTTTAGTAGAGATGGGGTTTCACCATGT	GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding		4436		chr17	TogoVar
GLB1L3_chr11_134271379_134324564	134308187	T T	TCATCATC others(206): Show TCATCATCACCACTACCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCATCACCACCACCACCATCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCATGTCCACCACCACTACCACCA CCATCACCATCACCATCACCACCACCACCACCACCATCACCATCACCATC ATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	422	0.0024	213	c.961 others(228): Show c.961+984_961+985insTCACCACTACCACCACCACCACCACCACCA CCATCACCACCATCACCACCATCACCATCACCACCACCACCATCATCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCATGTCCAC CACCACTACCACCACCATCACCATCACCATCACCACCACCACCACCACCA TCACCATCACCATCATCACCATCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(206): Show TTATATATTATATATAATATATATAATATATAATATAAATAATATATAAT ATATATTATATATTATATATAATATATATAATATATAATATAAATAATAT ATAATATATATTATATATTATATATAATATATATAATATATAATATAAAT AATATATAATATATATTATATATTATATATAATATATATAATATATAATA TAAATAATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	386	0.0026	213	c.966 others(230): Show c.966+2374_966+2375insTATATAATATATAATATAAATAATATAT AATATATATTATATATTATATATAATATATATAATATATAATATAAATAA TATATAATATATATTATATATTATATATAATATATATAATATATAATATA AATAATATATAATATATATTATATATTATATATAATATATATAATATATA ATATAAATAATATATAATATATATTATATATAATA	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(206): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	282	0.0036	213	c.375 others(232): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46628526	G G	GTTGGTGT others(206): Show GTTGGTGTCTGAGGGGCAGGTGGACTGAGTGTGTGCGTGGTGTCTGAGGG GCAGGTGGACTGAGTGTGTGCGTGGTGTCTGAGGGGCGGGTGGACTGAGT GTGTGCGTTGGTGTCTGAGGGGCAGGTGGACTGAGTGTGTGCGTGGTGTC TGAGGGGCAGGTGGACTGAGTGTGTGCGTGGTGTCTGAGGGGCGGGTGGA CTGAGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02976.hp2 others(1): Show HG02622.hp2 HG02922.hp2 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0033 a0001c0001t0004 a0001c0001t0010 a0001c0001t0033	a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0010g0034 others(1): Show a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0010g0034 a0001c0001t0033g0037	4	328	0.0122	213	c.162 others(230): Show c.162+1566_162+1567insTGGTGTCTGAGGGGCAGGTGGACTGAGT GTGTGCGTGGTGTCTGAGGGGCAGGTGGACTGAGTGTGTGCGTGGTGTCT GAGGGGCGGGTGGACTGAGTGTGTGCGTTGGTGTCTGAGGGGCAGGTGGA CTGAGTGTGTGCGTGGTGTCTGAGGGGCAGGTGGACTGAGTGTGTGCGTG GTGTCTGAGGGGCGGGTGGACTGAGTGTGTGCGTT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRB2_chr17_75313076_75410678	75394983	T T	TTTTCATA others(206): Show TTTTCATACTTGCTAAACAAAAGCAGAAAACAACAGAACTGGGACAGATT ATTTATAGTGACACCTTTCTTGGATAATTACGACCCAGCAGCTCATTTGA GGGGCACAAGTGATTATTATTCCTTTGTTCTAAAGTTGACAATTGGGGCA CTAATCAAGCATAGCTGCAAATGGACCAAGTAGTAAAGCAGTGGGGAATA TTAAGATTAGACCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0243 a0001c0001t0028g0243	1	246	0.0041	213	c.-13 others(232): Show c.-137-1219_-137-1218insCGGTCTAATCTTAATATTCCCCACTG CTTTACTACTTGGTCCATTTGCAGCTATGCTTGATTAGTGCCCCAATTGT CAACTTTAGAACAAAGGAATAATAATCACTTGTGCCCCTCAAATGAGCTG CTGGGTCGTAATTATCCAAGAAAGGTGTCACTATAAATAATCTGTCCCAG TTCTGTTGTTTTCTGCTTTTGTTTAGCAAGTATGAAA	GRB2	ENSG00000177885.15	transcript	ENST00000316804.10	protein_coding	1/5			chr17	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(206): Show TGTTAGTATAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAG TATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18968.hp2 NA18966.hp1 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0160 a0002c0002t0003g0237 a0002c0002t0003g0160 a0002c0002t0003g0237	2	268	0.0075	213	c.-28 others(224): Show c.-2845_-2844insGTTAGTATAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTATAT TAATAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(206): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATATAGTTAG TATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	268	0.0037	213	c.-28 others(224): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTA TATTAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRTP1_chr13_113319163_113369130	113364445	G G	GGAGGGGG others(206): Show GGAGGGGGCGGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCCAGGGGCGGGGGGAGGGGCGG GGCTGGGGGCGGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGAGGGGG GAGGGGAGAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0001 a0018c0019t0001	a0018c0019t0001g0279 a0018c0019t0001g0279	1	288	0.0035	213	c.-39 others(222): Show c.-395_-394insTCCTCTCTCCCCTCCCCCCTCCCCCCGCCCCTCCTC TCTCCCCAGGTCCTCCCCGCCCCCAGCCCCGCCCCTCCCCCCGCCCCTGG GGTGCTCCCCTGCCCCTCCCCCTCCCCCGCTCCTGCCCCTCCTCTGTCCC CAAGTCCTCCCCGCCCCCAGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCC CTGCCCCTCCCCCGCTCCCGCCCCCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		316		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(206): Show CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCTCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCTC CTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0022 a0009c0017t0022	a0009c0017t0022g0031 a0009c0017t0022g0031	1	290	0.0035	213	c.427 others(230): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCTCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(206): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTAATA TATATAATATATATAAATATATATATTATATATATAATATATATATTATA TATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	414	0.0024	213	c.57 others(224): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATTTATATATATTATATATATTAATATATATATTATAT ATATAATATATATATTATATATAATATATATATTAATATATATATTATAT ATATATTTATATATAATATATTATATTAATATATATATAATATATATAAT ATATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(206): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATTATATATATAATATATATATTAATATA TATAATATATATAAATATATATATATTATATATATAATATATATATTATA TATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	414	0.0024	213	c.57 others(224): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATATAATATATATTATATATAATATATATATTAATATATATATTATAT ATATATTTATATATAATATATTATATTAATATATATATAATATATATAAT ATATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HPCAL1_chr2_10297904_10432604	10399445	C C	CCACCGCC others(206): Show CCACCGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATC ATCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	314	0.0032	213	c.-25 others(230): Show c.-25+2527_-25+2528insCCGCCACCACCACCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCATCATCACCACCATCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18926033	A A	ATGGATGG others(206): Show ATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp2 HG02148.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0285 a0001c0001t0002g0273 a0001c0001t0002g0285	2	376	0.0053	213	c.666 others(230): Show c.666-4913_666-4912insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(206): Show AATATATATATGCAGTATATATATATGAATATATATATGGAATATATATG GAATATATATATGGAATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATGTGGAATATATATATGGAATATATATA TGGAATATATATGTGGAATATATATATGGAATATATATATATGTGGAATA TATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0198 a0002c0002t0040g0198	1	323	0.0031	213	c.-27 others(224): Show c.-2724_-2723insATATATATATGCAGTATATATATATGAATATATA TATGGAATATATATGGAATATATATATGGAATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATGTGGAATATATA TATGGAATATATATATGGAATATATATGTGGAATATATATATGGAATATA TATATATGTGGAATATATATATGGAATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2637		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(206): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	360	0.0028	213	c.221 others(232): Show c.221-22217_221-22216insAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2R_chr6_159964082_160116504	159980238	A A	AGAAAGAA others(206): Show AGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0255 a0002c0003t0001g0255	1	310	0.0032	213	c.149 others(232): Show c.149+10844_149+10845insAAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
INPP5A_chr10_132532787_132788480	132724714	C C	CTCACTCT others(206): Show CTCACTCTCCATAACTCACAGGGAGGCCCCAGGATGACAGGTGCACATGC CATATTCACCACAGACGGGGGTCACTCTCCAGAACTCACGGGGGGCCCCA GGCTAGCAGGAGCACATGCCATATTCACCACAGACAGGGGTTACTCACTC TCCAGAACTCACGGGGAGGCCCCAGGATGACAGGAGCACACGCCGTATTC ACCACAGACGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02723.hp1 others(2): Show HG02258.hp1 HG02280.hp1 HG02723.hp1 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0002g0017 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019	5	204	0.0245	213	c.648 others(230): Show c.648-2096_648-1884dupTAACTCACAGGGAGGCCCCAGGATGACA GGTGCACATGCCATATTCACCACAGACGGGGGTCACTCTCCAGAACTCAC GGGGGGCCCCAGGCTAGCAGGAGCACATGCCATATTCACCACAGACAGGG GTTACTCACTCTCCAGAACTCACGGGGAGGCCCCAGGATGACAGGAGCAC ACGCCGTATTCACCACAGACGGGGATCACTCTCCA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(206): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGATATATATATGATATATATAT GATATATATATGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01884.hp2 HG01081.hp2 HG01106.hp1 HG01884.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0207 a0004c0004t0001g0004 a0002c0002t0001g0207 a0004c0004t0001g0004	3	344	0.0087	213	c.25- others(228): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGATATATATAT GATATATATATGATATATATATGAGATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(206): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA AATATATATATGAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0195 a0001c0001t0006g0195	1	344	0.0029	213	c.25- others(228): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNQ2_chr20_63395208_63477655	63442653	C C	CCACCATC others(206): Show CCACCATCACCACCACCACCATCACCATCACCACCACCACCACCACCATC ACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCAT CACCACCATCACCATCATCACCATCACCATTACCACCACCATTACCACCA CCATCACCATCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01993.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0061 a0002c0001t0002g0236 a0002c0001t0002g0245 a0002c0001t0002g0061 a0002c0001t0002g0236 a0002c0001t0002g0245	3	330	0.0091	213	c.691 others(228): Show c.691-123_691-122insATGGTGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGATGGTGGTGGTGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442782	C C	CCACCATC others(206): Show CCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATC ACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCAC CACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCA CCATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATC ACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0074 a0001c0002t0073 a0001c0002t0074	a0001c0002t0073g0021 a0001c0002t0074g0238 a0001c0002t0073g0021 a0001c0002t0074g0238	2	330	0.0061	213	c.691 others(228): Show c.691-252_691-251insATGGTGGTGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATG GTGGTGGTAATGGTGGTGGTAATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(206): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATATAATATATATATTATATATATGTTACATATATATAATAT ATATATTATATATATGTTATATATATATTACATATATATAATATATATAT TATATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	386	0.0026	213	c.-44 others(224): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAATATATATATAACATATATATAATATATATATTATATATATGTAACAT ATATATAATATATATATTATATATATATATATAACATATATATAATATAT ATATTATATATATGTAACATATATATAATATATATATTATATATATATAT AACATATATATAATATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229012	A A	ACTCACCC others(206): Show ACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAG ATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCC CCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCCCACCACTCA CCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCT CCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	398	0.0025	213	c.64+ others(230): Show c.64+11627_64+11628insGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGG GGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAGAGGGAT CTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTG GTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0009 a0001c0002t0022g0009	1	308	0.0033	213	c.-25 others(232): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTCC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	308	0.0033	213	c.-25 others(232): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	308	0.0033	213	c.-25 others(232): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03490.hp2 HG02165.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0114 a0001c0001t0030g0059 a0001c0001t0001g0114 a0001c0001t0030g0059	2	308	0.0065	213	c.-25 others(232): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	308	0.0033	213	c.-25 others(232): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(206): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp2 NA18522.hp2 others(1): Show HG00673.hp1 HG02132.hp2 NA18522.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0014	a0001c0001t0001g0206 a0001c0001t0003g0233 a0001c0001t0009g0187 others(1): Show a0001c0001t0001g0206 a0001c0001t0003g0233 a0001c0001t0009g0187 a0001c0002t0014g0261	4	308	0.0130	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(206): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	308	0.0033	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(206): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	308	0.0033	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(206): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	308	0.0033	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(206): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	308	0.0033	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(206): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTT CCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	213	c.-25 others(232): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(206): Show TTATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATTATAGAT ATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03209.hp1 HG04199.hp1 others(5): Show HG01517.hp2 HG03209.hp1 HG04199.hp1 NA18961.hp2 NA19005.hp1 NA19065.hp2 NA19089.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0028 a0002c0023 a0002c0082 others(2): Show a0001c0028 a0002c0023 a0002c0082 a0003c0011 a0004c0041	a0001c0028t0001 a0002c0023t0001 a0002c0082t0001 others(2): Show a0001c0028t0001 a0002c0023t0001 a0002c0082t0001 a0003c0011t0002 a0004c0041t0001	a0001c0028t0001g0021 a0001c0028t0001g0022 a0002c0023t0001g0020 others(5): Show a0001c0028t0001g0021 a0001c0028t0001g0022 a0002c0023t0001g0020 a0002c0023t0001g0025 a0002c0082t0001g0016 a0003c0011t0002g0047 a0004c0041t0001g0228 a0004c0041t0001g0229	8	414	0.0193	213	c.480 others(228): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATTATCTATATTATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(206): Show TTATCTATATTATAGATATAGATATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATTATAGAT ATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01070.hp1 HG01074.hp1	a0001 a0003 a0001 a0003	a0001c0128 a0003c0065 a0001c0128 a0003c0065	a0001c0128t0001 a0003c0065t0001 a0001c0128t0001 a0003c0065t0001	a0001c0128t0001g0028 a0003c0065t0001g0027 a0001c0128t0001g0028 a0003c0065t0001g0027	2	414	0.0048	213	c.480 others(228): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(206): Show TTATCTATATTATAGATATAGATATTTATATCTATAATATAGATATAGAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATTATAGAT ATTATCTATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19007.hp1 NA19000.hp2 NA19007.hp1	a0003 a0004 a0003 a0004	a0003c0046 a0004c0030 a0003c0046 a0004c0030	a0003c0046t0001 a0004c0030t0001 a0003c0046t0001 a0004c0030t0001	a0003c0046t0001g0193 a0004c0030t0001g0043 a0003c0046t0001g0193 a0004c0030t0001g0043	2	414	0.0048	213	c.480 others(228): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATCTATATTATAGATAT AGATAATATTATCTATATTATAGATATAGATAATATCTATATCTATATTA TAGATATAAATATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035445	G G	GGCGGGAA others(206): Show GGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACG GCGCTGCGGGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0274 a0001c0001t0008g0274	1	375	0.0027	213	c.317 others(230): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGG GAGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(206): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGG TGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATG GGTGGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGG TGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0098 a0098	a0098c0115 a0098c0115	a0098c0115t0001 a0098c0115t0001	a0098c0115t0001g0151 a0098c0115t0001g0151	1	186	0.0054	213	c.450 others(230): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATTCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCA CCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATT CCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTA TCCTTCTACCCACCCACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LINGO2_chr9_27932617_29218601	28848053	A A	ATACACTA others(206): Show ATACACTATATATAGTGTGTATATATATTATATATATACATACTATATAT AGTGTGTATATATACTATATACACACTATATATAGTGTGTATATATATTA TATATACACACTATATATAGTGTGTATATATACTATATATACACACTATA TATAGTGTGTATATATAGTATATATACACTATATATAGTGTGTATATATA TTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	62	0.0161	213	c.-39 others(234): Show c.-395+99764_-395+99765insGTGTATATATATAATATATATACA CACTATATATAGTGTATATATACTATATATACACACTATATATAGTGTGT ATATATAGTATATATACACACTATATATAGTGTGTATATATAATATATAT ACACACTATATATAGTGTGTATATAGTATATATACACACTATATATAGTA TGTATATATATAATATATATACACACTATATATAGTGTA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28848053	A A	ATACACTA others(206): Show ATACACTATATATAGTGTGTATATATATTATATATATACATACTATATAT AGTGTGTATATATACTATATATACACTATATATAGTGTGTATATATATTA TATATACACACTATATATAGTGTGTATATATACTATATATACACACTATA TATAGTGTGTATATATAGTATATATACACTATATATAGTGTGTATATATA TTATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19060.hp2 HG00408.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0049 a0001c0001t0001g0048 a0001c0001t0003g0049	2	62	0.0323	213	c.-39 others(234): Show c.-395+99764_-395+99765insGTGTATATATATAATATATATACA CACTATATATAGTGTATATATACTATATATACACACTATATATAGTGTGT ATATATAGTATATATACACACTATATATAGTGTGTATATATAATATATAT ACACACTATATATAGTGTATATATAGTATATATACACACTATATATAGTA TGTATATATATAATATATATACACACTATATATAGTGTA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(206): Show ACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTT ACACCCACCCTTAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0217 a0001c0001t0037g0217	1	290	0.0035	213	c.129 others(232): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTA CATCTACCTCCACACCCGCGCTTACACCCACCCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(206): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTT TCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	436	0.0023	213	c.40 others(224): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar

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