Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GAN_chr16_81309962_81395809	81353292	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0311 a0001c0001t0061g0311	1	384	0.0026	30	c.283 others(47): Show c.283-1099_283-1098insAAAAAAAAAACAAAACAAAAAAAAAAAA AA		GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
GAN_chr16_81309962_81395809	81353297	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0310 a0001c0001t0060g0310	1	384	0.0026	30	c.283 others(47): Show c.283-1099_283-1098insAAAAAAAAAACAAAACAAAACAAAAAAA AA		GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
GAP43_chr3_115618510_115726483	115672732	C C	CCCTCTCC others(23): Show CCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp1 HG02280.hp2 HG01433.hp1 HG02145.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0001g0002 a0001c0001t0002g0243 a0001c0001t0002g0244	3	352	0.0085	30	c.31- others(45): Show c.31-3272_31-3243dupCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	ATATATAT others(23): Show ATATATATTATATATAAAATATATATAATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	352	0.0028	30	c.628 others(49): Show c.628+21677_628+21678insTATATATTATATATAAAATATATATA ATAT		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2						chr3	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(23): Show ATATATATATATGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0014 a0001c0015t0014	a0001c0015t0014g0112 a0001c0015t0014g0112	1	192	0.0052	30	c.262 others(49): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAAACATATATA TATA		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GAREM2_chr2_26168088_26194663	26178883	G G	GGGAGGCG others(23): Show GGGAGGCGGAGGCGGAGGCGGAGGCGGAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01081.hp1 others(50): Show HG00408.hp2 HG00558.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02602.hp1 HG03704.hp2 NA18612.hp2 NA18947.hp2 NA18957.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18993.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19081.hp2 NA19087.hp1	a0001 a0008 a0012 others(2): Show a0001 a0008 a0012 a0014 a0016	a0001c0001 a0008c0021 a0012c0016 others(2): Show a0001c0001 a0008c0021 a0012c0016 a0014c0011 a0016c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0008c0021t0001 a0012c0016t0001 a0014c0011t0001 a0016c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0005 a0001c0001t0012g0003 a0008c0021t0001g0003 a0012c0016t0001g0003 a0014c0011t0001g0003 a0016c0013t0001g0051	53	306	0.1732	30	c.253 others(47): Show c.253+2404_253+2405insCGGAGGCGGAGGCGGAGGCGGAGGCGGA GG		GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GAREM2_chr2_26168088_26194663	26178889	A A	AGGAGGCG others(23): Show AGGAGGCGGAGGAGGAGGCGGAGGCGGAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp2 others(90): Show HG00099.hp2 HG00140.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18950.hp2 NA18957.hp1 NA18971.hp2 NA18980.hp2 NA18989.hp2 NA19004.hp2 NA19055.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0007 a0001c0014 others(5): Show a0001c0001 a0001c0007 a0001c0014 a0001c0017 a0002c0003 a0003c0009 a0005c0019 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0007t0001 a0001c0014t0001 a0001c0017t0015 a0002c0003t0001 a0003c0009t0001 a0005c0019t0001 a0009c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0065 a0001c0001t0007g0001 a0001c0001t0010g0001 a0001c0001t0014g0053 a0001c0007t0001g0001 a0001c0007t0001g0036 a0001c0014t0001g0001 a0001c0017t0015g0001 a0002c0003t0001g0001 a0002c0003t0001g0054 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0069 a0003c0009t0001g0029 a0005c0019t0001g0001 a0009c0015t0001g0028	93	306	0.3039	30	c.253 others(47): Show c.253+2416_253+2417insAGGAGGCGGAGGCGGAGGCGGAGGCGGA GG		GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GAREM2_chr2_26168088_26194663	26178889	A A	AGGAGGCG others(23): Show AGGAGGCGGAGGCGGAGGCGGAGGCGGAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01071.hp2 others(26): Show HG00408.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18964.hp1 NA18966.hp1 NA18984.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19066.hp1 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0020 a0001c0001 a0001c0005 a0001c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0005t0003 a0001c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0006g0024 a0001c0001t0009g0023 a0001c0005t0003g0017 a0001c0020t0001g0041	29	306	0.0948	30	c.253 others(47): Show c.253+2423_253+2424insGGAGGCGGAGGCGGAGGCGGAGGCGGAG GC		GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GARIN1A_chr7_128667292_128692877	128678958	C C	CGTTACAT others(23): Show CGTTACATACATATATACATATGTAACGATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0159 a0007c0013t0004g0159	1	428	0.0023	30	c.589 others(47): Show c.589-1055_589-1026dupATATGTAACGATTGTTACATACATATAT AC		GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
GARIN3_chr5_157156846_157171264	157161704	T T	TCAAGAGT others(23): Show TCAAGAGTCAGCACACATTTTCTTAAAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03471.hp1 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	396	0.0051	30	c.71 others(39): Show c.713_*742dupGGCCTTTAAGAAAATGTGTGCTGACTCTTG		GARIN3	ENSG00000170613.4	transcript	ENST00000302938.4	protein_coding					141		chr5	TogoVar
GARIN5B_chr19_55349908_55368260	55359429	C C	CGGGATGG others(23): Show CGGGATGGAGCAGGTATGGCTGGGGCCTTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp1 HG01891.hp2 HG02572.hp1 others(5): Show HG00738.hp1 HG01891.hp2 HG02572.hp1 HG02886.hp2 HG02896.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0009 a0020 a0028 a0009 a0020 a0028	a0009c0009 a0020c0024 a0028c0020 a0009c0009 a0020c0024 a0028c0020	a0009c0009t0004 a0009c0009t0008 a0020c0024t0001 others(1): Show a0009c0009t0004 a0009c0009t0008 a0020c0024t0001 a0028c0020t0007	a0009c0009t0004g0012 a0009c0009t0004g0137 a0009c0009t0008g0136 others(2): Show a0009c0009t0004g0012 a0009c0009t0004g0137 a0009c0009t0008g0136 a0020c0024t0001g0071 a0028c0020t0007g0135	8	356	0.0225	30	c.140 others(39): Show c.1409_1438dupAGAAGGCCCCAGCCATACCTGCTCCATCCC	p.Gln others(13): Show p.Gln470_Ser479dup	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	9/11	1632/3191	1438/2769	480/922			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 NA19057.hp2 HG01109.hp2 HG02647.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0261 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0261	3	300	0.0100	30	c.595 others(45): Show c.595-539_595-538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp2 NA18747.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0264 a0001c0001t0001g0230 a0001c0001t0001g0264	2	300	0.0067	30	c.287 others(47): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAATATATATA TA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03041.hp1 HG00609.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0255 a0001c0001t0001g0041 a0001c0001t0001g0255	2	300	0.0067	30	c.287 others(47): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAATATATATATA TA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02602.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG02602.hp1 HG02717.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0006 a0005c0010 a0001c0003 a0002c0006 a0005c0010	a0001c0003t0008 a0002c0006t0003 a0005c0010t0003 a0001c0003t0008 a0002c0006t0003 a0005c0010t0003	a0001c0003t0008g0160 a0002c0006t0003g0156 a0002c0006t0003g0157 others(1): Show a0001c0003t0008g0160 a0002c0006t0003g0156 a0002c0006t0003g0157 a0005c0010t0003g0155	4	326	0.0123	30	c.148 others(47): Show c.1487+453_1487+482dupTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT		GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(23): Show GATATATATAAATATATATATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18951.hp2 NA18961.hp2 others(2): Show NA18940.hp1 NA18951.hp2 NA18961.hp2 NA18974.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0105 a0001c0002t0002g0014 a0001c0002t0004g0125 others(2): Show a0001c0002t0001g0105 a0001c0002t0002g0014 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0130	5	272	0.0184	30	c.724 others(49): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATA		GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113836270	A A	AGGAGGGG others(23): Show AGGAGGGGGAGAAGGGGGAGGGGGAGAAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0008 a0001c0022t0001g0008	1	143	0.0070	30	c.590 others(45): Show c.590-665_590-636dupCCCTTCTCCCCCTCCCCCTTCTCCCCCTCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14						chr13	TogoVar
GAS7_chr17_9905606_10203606	10046832	G G	GAAGAAAG others(23): Show GAAGAAAGAAAGAAAAGAAAAGAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0151 a0001c0001t0059g0151	1	218	0.0046	30	c.184 others(49): Show c.184-26936_184-26935insTTTTTCTTTCTTTTCTTTTCTTTCTT TCTT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS8_chr16_90017680_90049960	90047887	A A	AGAGGGGG others(23): Show AGAGGGGGCGGGACCGCGGTGAGAGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA19070.hp2 others(1): Show HG03490.hp1 HG03492.hp2 NA19070.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0033g0260 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0033g0260	4	390	0.0103	30	c.45 others(41): Show c.4542_*4543insGAGGGGGCGGGACCGCGGTGAGAGGGGGCG		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding					2928		chr16	TogoVar
GATA5_chr20_62458497_62480995	62463817	G G	GCCCTGTG others(23): Show GCCCTGTGGCTGCCTGCCCCGCTCCTCCGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00597.hp2 others(37): Show HG00280.hp1 HG00438.hp2 HG00597.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp2 HG02071.hp2 HG02109.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03492.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18953.hp2 NA18965.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19059.hp1 NA19066.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0027	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0002c0005 a0002c0006 a0002c0021 a0005c0028 a0005c0029 a0005c0030 a0009c0019 a0027c0026	a0001c0001t0004 a0001c0002t0004 a0001c0002t0011 others(14): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0011 a0001c0003t0004 a0001c0007t0031 a0001c0008t0004 a0001c0011t0004 a0002c0005t0011 a0002c0006t0004 a0002c0006t0014 a0002c0006t0018 a0002c0021t0029 a0005c0028t0011 a0005c0029t0011 a0005c0030t0035 a0009c0019t0004 a0027c0026t0004	a0001c0001t0004g0001 a0001c0001t0004g0027 a0001c0001t0004g0075 others(24): Show a0001c0001t0004g0001 a0001c0001t0004g0027 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0162 a0001c0001t0004g0176 a0001c0001t0004g0182 a0001c0001t0004g0188 a0001c0001t0004g0297 a0001c0002t0004g0112 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0011g0115 a0001c0003t0004g0026 a0001c0007t0031g0151 a0001c0008t0004g0195 a0001c0011t0004g0300 a0002c0005t0011g0256 a0002c0006t0004g0236 a0002c0006t0014g0036 a0002c0006t0018g0259 a0002c0021t0029g0261 a0005c0028t0011g0055 a0005c0029t0011g0052 a0005c0030t0035g0053 a0009c0019t0004g0232 a0027c0026t0004g0050	40	382	0.1047	30	c.10 others(41): Show c.1018_*1019insAGCGGAGGAGCGGGGCAGGCAGCCACAGGG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	7/7				1018		chr20	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18983.hp2 HG04115.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0128 a0001c0002t0006g0129 a0001c0002t0002g0128 a0001c0002t0006g0129	2	382	0.0052	30	c.699 others(47): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6						chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(23): Show CTTCCTTCTTTCTTCTTTCTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0242 a0002c0015t0003g0242	1	382	0.0026	30	c.-11 others(41): Show c.-1191_-1190insAGAAAGAAAGAAGAAAGAAGAAAGAAGGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477106	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTCTTATCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0038 a0009c0019t0001g0038	1	382	0.0026	30	c.-11 others(41): Show c.-1199_-1198insGAAAGAAAGATAAGAAGAAAGAAAGAAAGA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1112		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(23): Show TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	382	0.0026	30	c.-13 others(41): Show c.-1396_-1395insGAAAGAAAGAAAGAAAGAAAGAAGAAAGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1309		chr20	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00735.hp2 others(6): Show HG00280.hp2 HG00597.hp1 HG00735.hp2 HG02145.hp2 HG02165.hp1 HG02818.hp1 HG02818.hp2 NA18944.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0089 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0168 a0001c0001t0001g0307	9	320	0.0281	30	c.328 others(49): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATA		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12						chr4	TogoVar
GATD1_chr11_762222_782487	763220	C C	CCCCGCCC others(23): Show CCCCGCCCTCACCTGCCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	2	430	0.0047	30	c.76 others(41): Show c.7676_*7677insCGGGTGAGGGCGGGGGCAGGTGAGGGCGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4001		chr11	TogoVar
GBE1_chr3_81484703_81766645	81750611	A A	ATATGTAT others(23): Show ATATGTATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	304	0.0033	30	c.143 others(49): Show c.143+10763_143+10764insCATATATATATACATATATATATATA CATA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15						chr3	TogoVar
GBE1_chr3_81484703_81766645	81750611	A A	ATATGTAT others(23): Show ATATGTATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	304	0.0033	30	c.143 others(49): Show c.143+10763_143+10764insCATATATATATACATATATACATATA CATA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15						chr3	TogoVar
GBP6_chr1_89359059_89393160	89392463	C C	CAAGTACC others(23): Show CAAGTACCTGTGAGTTCAGAACAAGAGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0002 a0001c0001t0032g0002	1	452	0.0022	30	c.69 others(41): Show c.6994_*6995insAAGTACCTGTGAGTTCAGAACAAGAGATGA		GBP6	ENSG00000183347.15	transcript	ENST00000370456.5	protein_coding					4304		chr1	TogoVar
GCA_chr2_162339132_162368123	162345093	A A	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	366	0.0027	30	c.27+ others(43): Show c.27+832_27+861dupGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(23): Show GGTGGTGGTGGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp2 NA18962.hp2 others(2): Show HG00621.hp2 HG02015.hp2 NA18962.hp2 NA18978.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(1): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0003g0048	5	366	0.0137	30	c.27+ others(43): Show c.27+861_27+862insGGTGGTGGTGGTGGTGGTTGTGGTTGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCH1_chr14_54837017_54907826	54880503	T T	TATATATA others(23): Show TATATATATACTCCATATATATATACACTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0249 a0001c0001t0010g0250 a0001c0001t0010g0249 a0001c0001t0010g0250	2	346	0.0058	30	c.344 others(49): Show c.344-15068_344-15067insGGAGTGTATATATATATGGAGTATAT ATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTCCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	392	0.0026	30	c.45+ others(47): Show c.45+14054_45+14055insAGAAGAAGAAGGAGAAGAAGAAGAAGAA GA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18522.hp2 NA18999.hp2 others(3): Show HG01257.hp2 NA18522.hp2 NA18999.hp2 NA19055.hp1 NA19067.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0070 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0070 a0001c0001t0002g0126 a0001c0001t0003g0217 a0001c0001t0004g0312	6	392	0.0153	30	c.45+ others(47): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAGAAGA AG		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCNA_chrX_71573437_71618583	71603978	T T	TTCCCGAC others(23): Show TTCCCGACGACAGCAGTGATGATTCGGAAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02056.hp1 HG02165.hp2 others(3): Show HG02055.hp1 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG03540.hp1 NA19082.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0002 a0004c0004t0001 a0006c0006t0002	a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 others(3): Show a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 a0004c0004t0001g0113 a0006c0006t0002g0035 a0006c0006t0002g0036	6	265	0.0226	30	c.823 others(37): Show c.823_852dupCCCGACGACAGCAGTGATGATTCGGAAGCT	p.Pro others(13): Show p.Pro275_Ala284dup	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	941/2765	853/2076	285/691		INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp2 HG01517.hp1 others(9): Show HG01074.hp2 HG01361.hp2 HG01517.hp1 HG02273.hp2 HG02300.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 NA18522.hp1 NA18980.hp2 NA19060.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0027	a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0146 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0148 a0001c0001t0002g0246 a0001c0001t0003g0237 a0001c0001t0004g0314 a0001c0001t0012g0008 a0001c0001t0027g0003	12	324	0.0370	30	c.925 others(49): Show c.925+39409_925+39438dupACACACACACACACACACACACACAC ACAC		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569273	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	324	0.0031	30	c.925 others(49): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACCC		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01361.hp1 others(10): Show HG00280.hp2 HG01074.hp2 HG01361.hp1 HG01517.hp1 HG02273.hp1 HG02300.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 NA18522.hp1 NA18980.hp1 NA19060.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0004t0003	a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0323 a0001c0001t0002g0019 a0001c0001t0002g0237 a0001c0001t0010g0309 a0001c0001t0015g0299 a0001c0004t0003g0330	13	344	0.0378	30	c.919 others(49): Show c.919+11903_919+11932dupACACACACACACACACACACACACAC ACAC		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569273	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	344	0.0029	30	c.919 others(49): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACCC		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG02615.hp2 others(3): Show HG00621.hp2 HG01346.hp1 HG02615.hp2 HG03471.hp2 NA18954.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0031 others(1): Show a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0031 a0002c0004t0002g0032	6	354	0.0170	30	c.21 others(41): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03516.hp1 HG02723.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0235 a0001c0001t0007g0242 a0001c0001t0008g0254 a0001c0001t0002g0235 a0001c0001t0007g0242 a0001c0001t0008g0254	3	312	0.0096	30	c.212 others(47): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TA		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02257.hp1 NA19240.hp2 HG01433.hp1 HG02257.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0130 a0001c0001t0008 a0001c0001t0130	a0001c0001t0008g0001 a0001c0001t0130g0004 a0001c0001t0008g0001 a0001c0001t0130g0004	3	442	0.0068	30	c.-39 others(41): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					3894		chr2	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	424	0.0024	30	c.486 others(47): Show c.486+1166_486+1167insATATATATATATATATATATATATTTTT TT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19075.hp2 NA19010.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	2	412	0.0049	30	c.128 others(45): Show c.128+547_128+548insATATATATATATATATATATTTTTTTTTTT		GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778347	C C	CATGTGTA others(23): Show CATGTGTACATATATGTATATACACACATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0083 a0002c0002t0046g0083	1	318	0.0031	30	c.126 others(47): Show c.1264+290_1264+291insACATATATGTATATACACACATATATGT GT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	876361	A A	ACCCGCCC others(23): Show ACCCGCCCCTGGGTCACGTGTTGCCTGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0038 a0001c0003t0006g0038	2	384	0.0052	30	c.-28 others(39): Show c.-285_-284insCCCGCCCCTGGGTCACGTGTTGCCTGCGGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					192		chr7	TogoVar
GET4_chr7_871554_901436	894121	A A	ATTATTAG others(23): Show ATTATTAGATTTCAGAGTTGAGAATTCTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	384	0.0026	30	c.895 others(45): Show c.895+151_895+180dupTTATTAGATTTCAGAGTTGAGAATTCTGGC		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	412	0.0024	30	c.41 others(41): Show c.4105_*4106insATATATATATTTTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0231 a0001c0003t0001g0231	1	412	0.0024	30	c.41 others(41): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG04184.hp1 NA19070.hp2 HG02071.hp2 HG04184.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0004	a0001c0003t0001g0209 a0001c0003t0002g0342 a0001c0005t0004g0202 a0001c0003t0001g0209 a0001c0003t0002g0342 a0001c0005t0004g0202	3	412	0.0073	30	c.41 others(41): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar

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