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
TSHZ2_chr20_52967358_53500330	53204263	G G	GATACTAT others(208): Show GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATAACATTATGATATGATACTATATCAT CATATAACATTATGAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0007 a0001c0001t0053g0007	1	174	0.0058	215	c.41- others(232): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATAACATTATGATATGATACTATA TCATCATATAACATTATGATATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142390582	A A	AACAGACG others(208): Show AACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGC GGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGAC GCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGAC TCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTAC ACTGCGGGGGACTCCG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0230 a0007c0007t0002g0230	1	238	0.0042	215	c.-40 others(234): Show c.-40+12521_-40+12522insCGGAGTCCCCCGCAGTGTACAGCGTC TGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCA GTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACG GAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACA GCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TTLL8_chr22_50013575_50063298	50029201	C C	CCTCGTAA others(208): Show CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0210 a0005c0005t0002g0210	1	224	0.0045	215	c.225 others(234): Show c.2251+1228_2251+1229insTGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(208): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATATTATAT TTATGTAATATATAATATATATATTATATTTATGTAATATATAATATATA TATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTA ATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0031 a0001c0023t0031	a0001c0023t0031g0109 a0001c0023t0031g0109	1	204	0.0049	215	c.213 others(234): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATATATTAT ATATTACATAAATATAATATATATATTATATATTACATAAATATAATATA TATATTATATATTACATAAATATAATATATATATTATATATTACATAAAT ATAATATATATATTATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VAV2_chr9_133756894_133997324	133791889	G G	GGTGAGCG others(208): Show GGTGAGCGGGCTGTGCTGGGTGGGGTGTGTGTGACTGTGTGTGTAAGCAG GCTGTACTGGGTGGGGTGTGTGTGTGTGAGCATGTGTGAGCGGACTGTGC TGTGGTGTGTGTGTGTGAGACAGCATGTGTGTGTGAGCGGGCTGTGCTGG GTGGGGTGTGTGTGACTGTGTGTGTGTAAGTGGGCTGTACTGGGTGGGGT GTGTGTGATTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(103): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(21): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0002c0001 a0002c0005 a0002c0011 a0002c0027 a0003c0022 a0004c0014 a0004c0015 a0005c0020 a0006c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0036 others(46): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0036 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0004t0002 a0001c0004t0007 a0001c0004t0008 a0001c0006t0002 a0001c0006t0030 a0001c0007t0003 a0001c0007t0011 a0001c0007t0027 a0001c0008t0001 a0001c0008t0002 a0001c0008t0006 a0001c0008t0025 a0001c0010t0005 a0001c0012t0007 a0001c0012t0012 a0001c0013t0007 a0001c0017t0002 a0001c0018t0002 a0001c0019t0028 a0001c0021t0010 a0001c0023t0024 a0001c0024t0015 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0010 a0002c0001t0015 a0002c0001t0020 a0002c0001t0031 a0002c0001t0033 a0002c0001t0035 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0005t0013 a0002c0011t0004 a0002c0011t0012 a0002c0027t0001 a0003c0022t0006 a0004c0014t0002 a0004c0015t0003 a0005c0020t0022 a0006c0026t0002	a0001c0002t0001g0145 a0001c0002t0002g0011 a0001c0002t0002g0093 others(103): Show a0001c0002t0001g0145 a0001c0002t0002g0011 a0001c0002t0002g0093 a0001c0002t0036g0091 a0001c0003t0001g0131 a0001c0003t0001g0149 a0001c0003t0001g0180 a0001c0003t0001g0189 a0001c0003t0002g0025 a0001c0003t0002g0031 a0001c0003t0002g0063 a0001c0003t0002g0129 a0001c0003t0002g0184 a0001c0003t0002g0190 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0014g0126 a0001c0003t0014g0127 a0001c0004t0002g0051 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0004t0002g0120 a0001c0004t0007g0188 a0001c0004t0008g0007 a0001c0004t0008g0100 a0001c0004t0008g0185 a0001c0006t0002g0014 a0001c0006t0030g0089 a0001c0007t0003g0084 a0001c0007t0003g0096 a0001c0007t0003g0175 a0001c0007t0003g0183 a0001c0007t0011g0012 a0001c0007t0011g0121 a0001c0007t0011g0125 a0001c0007t0027g0094 a0001c0008t0001g0013 a0001c0008t0002g0042 a0001c0008t0002g0043 a0001c0008t0002g0174 a0001c0008t0006g0140 a0001c0008t0025g0170 a0001c0010t0005g0055 a0001c0010t0005g0137 a0001c0012t0007g0082 a0001c0012t0012g0019 a0001c0013t0007g0090 a0001c0013t0007g0097 a0001c0017t0002g0123 a0001c0018t0002g0022 a0001c0019t0028g0113 a0001c0021t0010g0092 a0001c0023t0024g0023 a0001c0024t0015g0057 a0002c0001t0001g0004 a0002c0001t0001g0045 a0002c0001t0001g0066 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0087 a0002c0001t0001g0106 a0002c0001t0001g0109 a0002c0001t0001g0133 a0002c0001t0001g0143 a0002c0001t0001g0147 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0158 a0002c0001t0001g0162 a0002c0001t0001g0164 a0002c0001t0001g0172 a0002c0001t0001g0176 a0002c0001t0001g0195 a0002c0001t0002g0008 a0002c0001t0002g0062 a0002c0001t0002g0073 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0187 a0002c0001t0004g0077 a0002c0001t0004g0078 a0002c0001t0004g0085 a0002c0001t0004g0086 a0002c0001t0004g0142 a0002c0001t0010g0033 a0002c0001t0015g0088 a0002c0001t0020g0107 a0002c0001t0031g0103 a0002c0001t0033g0165 a0002c0001t0035g0144 a0002c0005t0001g0047 a0002c0005t0001g0130 a0002c0005t0001g0146 a0002c0005t0002g0117 a0002c0005t0004g0075 a0002c0005t0004g0151 a0002c0005t0013g0136 a0002c0005t0013g0182 a0002c0011t0004g0081 a0002c0011t0012g0005 a0002c0027t0001g0068 a0003c0022t0006g0049 a0004c0014t0002g0002 a0004c0015t0003g0001 a0005c0020t0022g0122 a0006c0026t0002g0132	106	200	0.5300	215	c.110 others(230): Show c.1102-21_1102-20insACACACAATCACACACACCCCACCCAGTAC AGCCCACTTACACACACACAGTCACACACACCCCACCCAGCACAGCCCGC TCACACACACATGCTGTCTCACACACACACACCACAGCACAGTCCGCTCA CACATGCTCACACACACACACCCCACCCAGTACAGCCTGCTTACACACAC AGTCACACACACCCCACCCAGCACAGCCCGCTCAC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	12/29			chr9	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(208): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	274	0.0037	215	c.200 others(232): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137184	T T	TATATGAT others(208): Show TATATGATACATATATCATATATATCATATATGATACATATATCATATAT ATGATACATGTATCATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCATATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATATATCTCATAT ATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	340	0.0029	215	c.856 others(232): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR25_chr14_100371485_100535303	100462913	C C	CTGCTCCT others(208): Show CTGCTCCTTCCTTTTTCCCTTCTCCCCTTCTCTTCTCTCCCCTCTTCCTC TCCCCCTGCTCCTTCCTTCCTTTTTCCCTTCTCTTTCCCTCTCCCCGCTT CCTCTCCCCCTGCTCCTTCCTTTTTCCCTTCTCCCCTTCTCTTCTCTCCC CCTTCCTCTCCCCCTTGCTCCTTCCTTTTTCCCTTCTCTTCTTCTTTCAC CCCTTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	228	0.0044	215	c.823 others(232): Show c.823-5108_823-5107insTGCTCCTTCCTTTTTCCCTTCTCCCCTT CTCTTCTCTCCCCTCTTCCTCTCCCCCTGCTCCTTCCTTCCTTTTTCCCT TCTCTTTCCCTCTCCCCGCTTCCTCTCCCCCTGCTCCTTCCTTTTTCCCT TCTCCCCTTCTCTTCTCTCCCCCTTCCTCTCCCCCTTGCTCCTTCCTTTT TCCCTTCTCTTCTTCTTTCACCCCTTCCTCTCCCCCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	2/6			chr14	TogoVar
WDR25_chr14_100371485_100535303	100462953	C C	CTCTTCCT others(208): Show CTCTTCCTCTCCCCCTGCTCCTTCCTTCCTTTTTCCCTTCTCTTTCCCTC TCCCCGCTTCCTCTCCCCCTGCTCCTTCCTTTTTCCCTTCTCCCCTTCTC TTCTCTCCCCTCTTCCTCTCCCCCTTGCTCCTTCCTTTTTCCCTTCTCTT CTTCTTTCACCCCTTCCTCTCCCCCTGCTCCTTCCTTCCTTTTTCCCTTC TCTTTCCCTCTCCCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	228	0.0044	215	c.823 others(232): Show c.823-5068_823-5067insTCTTCCTCTCCCCCTGCTCCTTCCTTCC TTTTTCCCTTCTCTTTCCCTCTCCCCGCTTCCTCTCCCCCTGCTCCTTCC TTTTTCCCTTCTCCCCTTCTCTTCTCTCCCCTCTTCCTCTCCCCCTTGCT CCTTCCTTTTTCCCTTCTCTTCTTCTTTCACCCCTTCCTCTCCCCCTGCT CCTTCCTTCCTTTTTCCCTTCTCTTTCCCTCTCCCCG	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	2/6			chr14	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(208): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATATTATATATATATATAATATATATA TTATATATATATTATATATATATAATATATATTATATATATATAATATAT ATATAATATATATATATTATATATATATAATATATATATTATATATATAT AATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0002 a0015c0019t0002	a0015c0019t0002g0025 a0015c0019t0002g0025	1	330	0.0030	215	c.38 others(226): Show c.3884_*3885insAATATATATATATATTATATATATATAATATATA TATTATATATATATAATATATATATATTATATATATATTATATATATATA ATATATATTATATATATATAATATATATATAATATATATATTATATATAT ATATAATATATATATATATTATATATATATATATTATATATATATATTAT ATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(208): Show TAATATATATAATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATAGAGAG AGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	215	c.37 others(226): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTCTCTATATATATATAT AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATTATATATATATTATATATATATTATATATATATTATATATATA TAATATATATAATATATATATATATTATATATATATAATATATATATTAT ATATATATAATATATATATATTATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(208): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATATATAG AGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA19002.hp2 NA18968.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	330	0.0061	215	c.37 others(226): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTATATATATATATATAT AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATTATATATATATTATATATATATTATATATATATTATATATATA TAATATATATAATATATATATATATTATATATATATAATATATATATTAT ATATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(208): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATATATAT ATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	215	c.37 others(226): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAT AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATTATATATATATTATATATATATTATATATATATTATATATATA TAATATATATAATATATATATATATTATATATATATAATATATATATTAT ATATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(208): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATATTATATATAATATTTATATATTATATATAATATTTATATATTA TATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	330	0.0030	215	c.69+ others(232): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATATTATATATAATATTTATATATTATATATAATATTTATATA TTATATATAATATTTATATATTATATATAATATTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZAN_chr7_100728595_100802797	100742869	A A	AGGGAGAG others(208): Show AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGAG AGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0001 a0020c0020t0001	a0020c0020t0001g0054 a0020c0020t0001g0054	1	308	0.0033	215	c.767 others(232): Show c.767-3669_767-3668insGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGAGAGGGAGAGGGAGAGGG	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47			chr7	TogoVar
ZFPM1_chr16_88448280_88542031	88461015	T T	TGGGGCGG others(208): Show TGGGGCGGGAGACCTGGTGAGGACGGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCGAGGGGCGGGAGGCCTG GTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGT CTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAG GCCTGGTGAGGACCGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	318	0.0031	215	c.40+ others(230): Show c.40+7347_40+7348insACCTGGTGAGGACGGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCGAGGGGCG GGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGG GCAGAAGGTCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAG GGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(209): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0059 a0008c0059	a0008c0059t0004 a0008c0059t0004	a0008c0059t0004g0200 a0008c0059t0004g0200	1	306	0.0033	216	c.130 others(235): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAAT ATAAAAATATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ACGTGTGT others(209): Show ACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATATACAC ACACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATATAC ACACACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATAT ACACACACGTGTGTATATGTATATATACACACATATCTGTGTGTATATGT ATATATACACACATATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	308	0.0033	216	c.324 others(233): Show c.3249+902_3249+903insCGTGTGTATATGTATATATACACACACG TGTGTATATGTATATATACACACACGTGTGTATATGTATATATACACACA CGTGTGTATATGTATATATACACACACGTGTGTATATGTATATATACACA CACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATATACA CACATATCTGTGTGTATATGTATATATACACACATATC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289579	T T	TCCCGTGT others(209): Show TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	295	0.0034	216	c.39 others(227): Show c.3984_*3985insGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2811		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736581	A A	AAGGGGCG others(209): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGAGAGAGGGGCGTCGGGGCAGG GGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAG AGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAG GGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGC GTCGGGGCAGGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0227 a0001c0004t0005g0227	1	314	0.0032	216	c.71 others(227): Show c.7149_*7150insAGGGGCGTCGGGGCAGGGGAGAGAGGGGAGAGAG GGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGC GTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCG GGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGC AGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4993		chr19	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(209): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp2 HG02273.hp2 others(1): Show HG00642.hp2 HG01257.hp2 HG02273.hp2 NA19000.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0003c0023 a0002c0002 a0003c0005 a0003c0023	a0002c0002t0001 a0003c0005t0001 a0003c0023t0001 a0002c0002t0001 a0003c0005t0001 a0003c0023t0001	a0002c0002t0001g0060 a0003c0005t0001g0132 a0003c0005t0001g0140 others(1): Show a0002c0002t0001g0060 a0003c0005t0001g0132 a0003c0005t0001g0140 a0003c0023t0001g0215	4	226	0.0177	216	c.137 others(237): Show c.1373-18333_1373-18118dupGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1205346	T T	TGGAGCCC others(209): Show TGGAGCCCGTGGCACAGCCTGAGGGAGACAACTCATGGGAGCCCGTGGCA CAGCCTGAGGGAGACAACTCACTGGAGCCCGTGGCACAGCCTGAGGGAGA CAACTCACGGGAGCCCGTGGCACAGCCTGAGGGAGACAACTCACGGGAGC CCGTGGCACAGCCTGAGGGAGACAACTCACGGGAGCCCGTGGCACAGCCT GAGGGAGACAACTCACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0048 a0002c0002t0038g0048	1	106	0.0094	216	c.168 others(235): Show c.1683-5200_1683-5199insCGTGAGTTGTCTCCCTCAGGCTGTGC CACGGGCTCCCGTGAGTTGTCTCCCTCAGGCTGTGCCACGGGCTCCCGTG AGTTGTCTCCCTCAGGCTGTGCCACGGGCTCCCGTGAGTTGTCTCCCTCA GGCTGTGCCACGGGCTCCAGTGAGTTGTCTCCCTCAGGCTGTGCCACGGG CTCCCATGAGTTGTCTCCCTCAGGCTGTGCCACGGGCTCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1209423	A A	ACCCATGC others(209): Show ACCCATGCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACAC CCATGCCCATGCCTACACTGTCGCCCATGCCCACACCTACAGCCTGGCCC ACACCCACACCATCACCCACACCCATGCCCATGCCTACACTGTCGCCCAT GCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACACCCATGC CCATGCCTACACTGTCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0015 a0001c0001t0022g0015	1	106	0.0094	216	c.168 others(235): Show c.1682+7527_1682+7528insCGACAGTGTAGGCATGGGCATGGGTG TGGGTGATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGGCGAC AGTGTAGGCATGGGCATGGGTGTGGGTGATGGTGTGGGTGTGGGCCAGGC TGTAGGTGTGGGCATGGGCGACAGTGTAGGCATGGGCATGGGTGTGGGTG ATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1209423	A A	ACCCATGC others(209): Show ACCCATGCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACAC CCATGCCCATGCCTACACTGTCGCCCATGCCCACACCTACAGCCTGGCCC ACACCCACACCATCACCCACACCCATGCCCATGCCTACACTGTCGCCCAT GCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACACCCATGC CCGTGCCTACACTGTCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0014 a0009c0016t0014	a0009c0016t0014g0008 a0009c0016t0014g0008	1	106	0.0094	216	c.168 others(235): Show c.1682+7527_1682+7528insCGACAGTGTAGGCACGGGCATGGGTG TGGGTGATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGGCGAC AGTGTAGGCATGGGCATGGGTGTGGGTGATGGTGTGGGTGTGGGCCAGGC TGTAGGTGTGGGCATGGGCGACAGTGTAGGCATGGGCATGGGTGTGGGTG ATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237653	T T	TACTCCCC others(209): Show TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	106	0.0094	216	c.136 others(235): Show c.1362-3809_1362-3808insGAACACCGGGAGGGAGAGGGGAGTAA ACACCGGGAGGCAGGGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAAC ACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGTAAACAC CGGGAGGGAGAGGGGAGTAAACACCGGGAGGCAGGGGGGAGTAAACACCG GGAGGGAGAGGGGAGTAAACACCGGGAGGCAGAGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238638	T T	TCTGCCTC others(209): Show TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	106	0.0094	216	c.136 others(235): Show c.1361+3492_1361+3493insGGGGGAGTAAACACCGGGAGGGAGAG GGGAGTAAACACCGGGAGACAGAGGGGAGTGAACACCGGGAGGCAGAGGG GAGTGAACACCGGGAGGCAGGGGGGAGTAAACACCGGGAGGGAGAGGGGA GTAAACACCGGGAGGGAGGGGGGAGTAAACACCGGGAGGGAGAGGGGAGT AAACACCGGGAGGCAGAGGGGAGTGAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327452	C C	CCAGCGCC others(209): Show CCAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCA CTGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCATGGCACAGCGCCTC CTCACTGCCCAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCG CCTCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCACGGCCC AGCGCCTCCTCACTGCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	106	0.0094	216	c.107 others(237): Show c.1077+35575_1077+35576insTGCAGTGAGGAGGCGCTGGGCCGT GGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGTG CAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCAGTGAGGAGGCGC TGTGCCATGGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAG GCGCTGTGCAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142520399	A A	ATGGTGGT others(209): Show ATGGTGGTGATGGTTGTGTTGGTGATGGTGGTACTGATTGTGTGATAATG GTGATGGTGATGATGGTGATGTGGTAGATAGTGATGGTGGTGATGGCGTG GTGGTGTTAGTGATTGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGA GTGATGATGGTGATGGTGGTAGTGATTGTGATGGTGGTGATAGTGGTGCT GATGGTGGTGATGGCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG03516.hp1 HG01891.hp1 HG02630.hp2 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0067 a0001c0007t0001g0068 a0001c0007t0001g0069 a0001c0007t0001g0067 a0001c0007t0001g0068 a0001c0007t0001g0069	3	310	0.0097	216	c.292 others(233): Show c.2922-422_2922-421insGTGGTGATGGTTGTGTTGGTGATGGTGG TACTGATTGTGTGATAATGGTGATGGTGATGATGGTGATGTGGTAGATAG TGATGGTGGTGATGGCGTGGTGGTGTTAGTGATTGTGATGGTGATGGTGG TGGTGGTGGTGGTGATGGAGTGATGATGGTGATGGTGGTAGTGATTGTGA TGGTGGTGATAGTGGTGCTGATGGTGGTGATGGCTGTG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(209): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0044 a0044	a0044c0037 a0044c0037	a0044c0037t0003 a0044c0037t0003	a0044c0037t0003g0099 a0044c0037t0003g0099	1	218	0.0046	216	c.32- others(229): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(209): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0025 a0003c0003t0002g0025	1	218	0.0046	216	c.32- others(229): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADRA1D_chr20_4215630_4254287	4224541	G G	GGGGCCAG others(209): Show GGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGAC CAAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTG AGACCAAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCC TGTGAGACCAAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGG TGCCTGTGAGACCAAGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	452	0.0022	216	c.111 others(235): Show c.1112-2412_1112-2411insGCTTGGTCTCACAGGCACCTGCAGCC TCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCACAGGCACCTGC AGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCACAGGCAC CTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCACAG GCACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(209): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATATAAAT ATATATATTTATAAATATATATTTATATATATAAATATATATATTTATAA ATATATATTTATATATATAAATATATATATTTATATATATATATTTATAT ATATAAATATATATATTTATATATATATATTTATATATATAAATATATAT ATTTATAAATATATATT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	104	0.0096	216	c.34+ others(233): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATATATAAATATATATATTTATATATATAAATATA TATATATAAATATATATATTTATATATATAAATATATATTTATAAATATA TATATTTATATATATAAATATATATTTATAAATATATATATTTATATATA TAAATATATATTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(209): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATATAAAT ATATATATTTATAAATATATATTTATATATATAAATATATATATTTATAT ATATATATTTATATATATAAATATATATATTTATAAATATATATTTATAT ATATAAATATATATATTTATATATATATATTTATATATATAAATATATAT ATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0055 a0001c0001t0012g0055	1	104	0.0096	216	c.34+ others(233): Show c.34+75810_34+75811insAATATATATATATAAATATATATATTTA TATATATAAATATATATATATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATATTTATATATATAAATATATATATATAAATATA TATATTTATATATATAAATATATATTTATAAATATATATATTTATATATA TAAATATATATTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
ANO7_chr2_241183677_241230976	241187727	C C	CAGGAGGA others(209): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGAGGGGGAGAAACGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03540.hp1 others(2): Show HG02258.hp1 HG02622.hp2 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0029	a0003c0013 a0006c0006 a0009c0016 others(1): Show a0003c0013 a0006c0006 a0009c0016 a0029c0064	a0003c0013t0002 a0006c0006t0001 a0006c0006t0003 others(2): Show a0003c0013t0002 a0006c0006t0001 a0006c0006t0003 a0009c0016t0008 a0029c0064t0001	a0003c0013t0002g0114 a0006c0006t0001g0106 a0006c0006t0003g0112 others(2): Show a0003c0013t0002g0114 a0006c0006t0001g0106 a0006c0006t0003g0112 a0009c0016t0008g0109 a0029c0064t0001g0099	5	396	0.0126	216	c.-10 others(227): Show c.-1047_-1046insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGAGGGGGAGAAACGAT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		949		chr2	TogoVar
ANXA2_chr15_60342151_60402986	60349867	C C	CAGGGGAA others(209): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0254 a0003c0004t0001g0254	1	334	0.0030	216	c.838 others(231): Show c.838-671_838-670insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(209): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18948.hp2 NA19083.hp1 NA18747.hp2 NA18948.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0172 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0172	3	334	0.0090	216	c.838 others(231): Show c.838-693_838-692insCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(209): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	334	0.0030	216	c.838 others(231): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(209): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18946.hp2 HG00544.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0230 a0001c0001t0001g0164 a0001c0001t0001g0230	2	334	0.0060	216	c.838 others(231): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(209): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	334	0.0030	216	c.838 others(231): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCTCCAC others(209): Show TCCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCACCTCCAC CACCTCCACCACCACCACCACCACCACCTCCACCTCCACCACCACCACCA CCACCTCCAACTCCACCACCTCCACCTCCACCACCACCTCCACCACCACC ACCTCCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCACCAC CACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0038	1	296	0.0034	216	c.67 others(227): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGG TGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGTGGTGGTGGAG GTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGA GGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARHGEF7_chr13_111110310_111310732	111221399	A A	ATATCTAT others(209): Show ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT AGATATATATAGACATATATATCTATATAGATATATATAGACATATATAT CTATATAGATATCTATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0022 a0001c0003t0019g0022	1	274	0.0037	216	c.670 others(233): Show c.670+3520_670+3521insATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATAGACATATATATCTATATAG ATATATATAGACATATATATCTATATAGATATCTATGT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(209): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTC CCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	264	0.0038	216	c.102 others(233): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(209): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	264	0.0038	216	c.102 others(233): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(209): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	264	0.0038	216	c.102 others(233): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(209): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	264	0.0038	216	c.102 others(233): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(209): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	210	0.0048	216	c.27 others(227): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406396	C C	CGTCTTCC others(209): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGAC ATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTG GACCTCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0208 a0001c0002t0009g0208	1	210	0.0048	216	c.30 others(227): Show c.3069_*3070insGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGA GTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGT GTGTGTCACTGAGTGGACCTCTGTGACATCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		719		chr2	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(209): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	226	0.0044	216	c.108 others(233): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10A_chr15_25673712_25868327	25757984	T T	TCACCTGC others(209): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0267 a0004c0004t0001g0267	1	300	0.0033	216	c.655 others(235): Show c.655-21844_655-21843insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGT GGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758449	A A	ACTCATTC others(209): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0141 a0005c0005t0001g0141	1	300	0.0033	216	c.655 others(235): Show c.655-22309_655-22308insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar

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