Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GAPVD1_chr9_125256826_125372207	125300038	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	340	0.0029	21	c.185 others(36): Show c.185+933_185+934insAAAAAAAAAAAAAAATATATA		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32343311	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0152 a0001c0004t0001g0152	1	192	0.0052	21	c.263 others(40): Show c.263-33009_263-32989dupAAAAAAAAAAAAAAAAAAAAA		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATGTTT others(14): Show ATATGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18949.hp1 NA18942.hp2 NA18949.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0007 a0001c0008 a0003c0007	a0001c0008t0008 a0003c0007t0002 a0001c0008t0008 a0003c0007t0002	a0001c0008t0008g0026 a0003c0007t0002g0070 a0001c0008t0008g0026 a0003c0007t0002g0070	2	192	0.0104	21	c.262 others(40): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAACATA		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GAREM2_chr2_26168088_26194663	26172991	G G	GGGGGTCC others(14): Show GGGGGTCCGGGAGGAGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02897.hp2 HG02717.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0035 a0001c0005t0006g0035	2	306	0.0065	21	c.-23 others(30): Show c.-230_-229insGGGGTCCGGGAGGAGGGGGCC		GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding					96		chr2	TogoVar
GARIN2_chr14_67184440_67228940	67185081	C C	CAAAAGCC others(14): Show CAAAAGCCAGATTACAAAATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	332	0.0030	21	c.-46 others(32): Show c.-4602_-4601insAAAAGCCAGATTACAAAATAG		GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding					4358		chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50476380	C C	CGGCCCCA others(14): Show CGGCCCCATCCTGCTGACGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18973.hp1 NA19002.hp1 NA19063.hp2 others(1): Show NA18973.hp1 NA19002.hp1 NA19063.hp2 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0030 a0003c0004t0001g0190 a0003c0004t0001g0030 a0003c0004t0001g0190	4	414	0.0097	21	c.-13 others(26): Show c.-13_8dupTGACGTCAGCAGGATGGGGCC	p.Pro others(30): Show p.Pro3_Pro4insAspValSerArgMetGlyPro	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	1/5	468/1375	8/744	3/247			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55354280	G G	GCCCCCAC others(14): Show GCCCCCACCAACCCGGCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0008 a0008c0009t0008	a0008c0009t0008g0136 a0008c0009t0008g0136	1	356	0.0028	21	c.83 others(30): Show c.835_*855dupGCGGGGCCGGGTTGGTGGGGG		GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding					627		chr19	TogoVar
GAS2L2_chr17_35739511_35758239	35746451	C C	CAGGCCGG others(14): Show CAGGCCGGCAGGGTCATCTAGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0007 a0001c0026t0007	a0001c0026t0007g0154 a0001c0026t0007g0154	1	436	0.0023	21	c.108 others(36): Show c.1086-61_1086-41dupACTAGATGACCCTGCCGGCCT		GAS2L2	ENSG00000270765.7	transcript	ENST00000604641.6	protein_coding	5/5						chr17	TogoVar
GAS6_chr13_113815549_113869076	113836562	G G	GGGGGTGG others(14): Show GGGGGTGGGGAGGGGTGAGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	143	0.0070	21	c.590 others(36): Show c.590-948_590-928dupTCCCTCACCCCTCCCCACCCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14						chr13	TogoVar
GAS6_chr13_113815549_113869076	113841684	A A	ACCCCACA others(14): Show ACCCCACAGTTTCTTCCATACG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01070.hp1 HG01099.hp2 HG01258.hp2 HG02015.hp1 HG02132.hp2 HG02145.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18971.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0003t0001g0047 a0001c0015t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0022	22	143	0.1539	21	c.344 others(38): Show c.344-1835_344-1834insCGTATGGAAGAAACTGTGGGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14						chr13	TogoVar
GAS7_chr17_9905606_10203606	9998693	A A	AAAGGAAA others(14): Show AAAGGAAAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG02055.hp2 others(34): Show HG00558.hp2 HG01167.hp1 HG02055.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18967.hp2 NA18998.hp2 NA19043.hp2 NA19057.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0058 a0001c0001t0059 a0001c0001t0072 a0001c0002t0001 a0001c0003t0014 a0001c0003t0019 a0001c0003t0032 a0001c0003t0035 a0001c0004t0068 a0001c0005t0003 a0001c0007t0012	a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0100 others(34): Show a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0003g0071 a0001c0001t0003g0121 a0001c0001t0003g0149 a0001c0001t0006g0032 a0001c0001t0006g0134 a0001c0001t0008g0095 a0001c0001t0009g0037 a0001c0001t0009g0056 a0001c0001t0009g0135 a0001c0001t0010g0017 a0001c0001t0010g0020 a0001c0001t0016g0119 a0001c0001t0017g0004 a0001c0001t0017g0006 a0001c0001t0026g0147 a0001c0001t0027g0182 a0001c0001t0036g0018 a0001c0001t0037g0007 a0001c0001t0038g0024 a0001c0001t0058g0106 a0001c0001t0059g0151 a0001c0001t0072g0178 a0001c0002t0001g0144 a0001c0003t0014g0153 a0001c0003t0019g0158 a0001c0003t0019g0179 a0001c0003t0032g0025 a0001c0003t0035g0011 a0001c0004t0068g0214 a0001c0005t0003g0150 a0001c0007t0012g0015	37	218	0.1697	21	c.305 others(40): Show c.305-16830_305-16810dupCCCTTCCCTTCCCTTTTCCTT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10085706	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0067 a0001c0001t0021g0067	1	218	0.0046	21	c.184 others(40): Show c.184-65810_184-65809insCTTTCTTTCTTTTTTTTTTTT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10153208	T T	TCAAAAAA others(14): Show TCAAAAAAAAAACAAAGCAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	218	0.0046	21	c.183 others(40): Show c.183+44999_183+45000insTTTTGCTTTGTTTTTTTTTTG		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10153210	A A	AAAAAAAA others(14): Show AAAAAAAAAAACAAAGCAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01346.hp2 others(6): Show HG00323.hp2 HG00609.hp1 HG01346.hp2 HG01952.hp2 HG02071.hp1 HG02129.hp2 HG02155.hp2 NA18999.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0029 a0001c0001t0055	a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0002g0065 a0001c0001t0002g0128 a0001c0001t0002g0195 a0001c0001t0015g0217 a0001c0001t0029g0122 a0001c0001t0055g0063	9	218	0.0413	21	c.183 others(40): Show c.183+44997_183+44998insGTTTTGCTTTGTTTTTTTTTT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(14): Show ACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02523.hp1 HG02622.hp2 others(6): Show HG01109.hp2 HG02523.hp1 HG02622.hp2 HG03098.hp2 HG03579.hp2 HG03654.hp1 NA18747.hp2 NA19030.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0060 a0001c0001t0066 a0001c0002t0052 a0001c0003t0019 a0002c0011t0041	a0001c0001t0001g0066 a0001c0001t0002g0170 a0001c0001t0003g0047 others(6): Show a0001c0001t0001g0066 a0001c0001t0002g0170 a0001c0001t0003g0047 a0001c0001t0011g0012 a0001c0001t0060g0167 a0001c0001t0066g0120 a0001c0002t0052g0193 a0001c0003t0019g0158 a0002c0011t0041g0026	9	218	0.0413	21	c.183 others(40): Show c.183+39144_183+39145insATATATATATATATATATATG		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10159097	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	218	0.0046	21	c.183 others(40): Show c.183+39110_183+39111insTATATATATATATATATATAT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS8_chr16_90017680_90049960	90047897	G G	GCCGCGGT others(14): Show GCCGCGGTGAGAGGGGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0314 a0001c0016t0015g0314	1	390	0.0026	21	c.45 others(32): Show c.4552_*4553insCCGCGGTGAGAGGGGGCGGGA		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding					2938		chr16	TogoVar
GAS8_chr16_90017680_90049960	90047935	C C	CGGGACCG others(14): Show CGGGACCGCGGTGAGAAGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(157): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0010 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0023 a0001c0026 a0002c0005 a0002c0006 a0003c0007 a0004c0008 a0007c0013 a0010c0015 a0015c0020 a0016c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0011 a0001c0003t0034 a0001c0004t0001 a0001c0023t0039 a0001c0026t0007 a0002c0005t0004 a0002c0005t0014 a0002c0006t0004 a0002c0006t0021 a0003c0007t0004 a0004c0008t0001 a0004c0008t0041 a0007c0013t0001 a0010c0015t0001 a0015c0020t0001 a0016c0012t0001	a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0004g0055 others(150): Show a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0004g0055 a0001c0001t0040g0307 a0001c0002t0001g0136 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0004g0032 a0001c0002t0004g0038 a0001c0002t0004g0043 a0001c0002t0007g0012 a0001c0002t0007g0150 a0001c0002t0007g0181 a0001c0002t0011g0315 a0001c0002t0011g0316 a0001c0002t0019g0115 a0001c0002t0019g0335 a0001c0002t0020g0027 a0001c0002t0020g0052 a0001c0002t0025g0189 a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0096 a0001c0003t0001g0100 a0001c0003t0001g0114 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0127 a0001c0003t0001g0296 a0001c0003t0007g0093 a0001c0003t0007g0095 a0001c0003t0007g0101 a0001c0003t0007g0102 a0001c0003t0010g0128 a0001c0003t0010g0129 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0011g0121 a0001c0003t0011g0122 a0001c0003t0034g0026 a0001c0004t0001g0053 a0001c0004t0001g0137 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0145 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0167 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0182 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0188 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0004t0001g0196 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0202 a0001c0004t0001g0204 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0001g0224 a0001c0023t0039g0257 a0001c0026t0007g0164 a0002c0005t0004g0028 a0002c0005t0004g0029 a0002c0005t0004g0044 a0002c0005t0004g0047 a0002c0005t0004g0048 a0002c0005t0004g0051 a0002c0005t0004g0054 a0002c0005t0004g0173 a0002c0005t0014g0045 a0002c0005t0014g0046 a0002c0006t0004g0006 a0002c0006t0004g0031 a0002c0006t0004g0033 a0002c0006t0004g0034 a0002c0006t0004g0040 a0002c0006t0021g0030 a0002c0006t0021g0041 a0003c0007t0004g0035 a0003c0007t0004g0036 a0003c0007t0004g0039 a0003c0007t0004g0049 a0004c0008t0001g0180 a0004c0008t0041g0213 a0007c0013t0001g0133 a0010c0015t0001g0168 a0015c0020t0001g0184 a0016c0012t0001g0086	160	390	0.4103	21	c.45 others(32): Show c.4590_*4591insGGGACCGCGGTGAGAAGTGGG		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding					2976		chr16	TogoVar
GATA3_chr10_8049688_8080198	8061089	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	370	0.0027	21	c.778 others(38): Show c.778+2249_778+2250insCTCTCTCTCTCTCTCTCTCTT		GATA3	ENSG00000107485.18	transcript	ENST00000379328.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp2 HG02004.hp1 others(6): Show HG01175.hp2 HG01978.hp2 HG02004.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02976.hp1 HG03540.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0036 a0001c0004t0002 a0001c0004t0039	a0001c0002t0001g0126 a0001c0002t0002g0127 a0001c0002t0009g0013 others(3): Show a0001c0002t0001g0126 a0001c0002t0002g0127 a0001c0002t0009g0013 a0001c0002t0036g0104 a0001c0004t0002g0022 a0001c0004t0039g0060	9	382	0.0236	21	c.699 others(38): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6						chr20	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20300.hp1 HG01106.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0314 a0001c0001t0001g0278 a0001c0001t0001g0314	2	349	0.0057	21	c.-1- others(38): Show c.-1-33448_-1-33447insATATATTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	349	0.0029	21	c.-1- others(38): Show c.-1-33448_-1-33447insATATATATTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0243 a0001c0001t0028g0243	1	349	0.0029	21	c.-1- others(38): Show c.-1-33448_-1-33447insATATATATATATATATATATA		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GBF1_chr10_102240532_102387896	102242928	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0004 a0001c0021t0004 a0001c0004t0004 a0001c0021t0004	a0001c0004t0004g0014 a0001c0021t0004g0016 a0001c0004t0004g0014 a0001c0021t0004g0016	2	330	0.0061	21	c.-28 others(32): Show c.-2864_-2863insAAAAAAAAAAAAAAAAAAAAA		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding					2603		chr10	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG04204.hp1 NA18974.hp2 others(1): Show HG03471.hp2 HG04204.hp1 NA18974.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0171 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0005g0153	4	330	0.0121	21	c.163 others(40): Show c.163+33652_163+33653insTTTTTTTTTTTTTTTTTTTTT		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102331851	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0015 a0001c0004t0004g0004 a0001c0004t0004g0015	2	330	0.0061	21	c.164 others(40): Show c.164-12194_164-12174dupTTTTTTTTTTTTTTTTTTTTT		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133160281	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02015.hp1 HG02080.hp1 others(7): Show HG01496.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp2 NA18906.hp1 NA18960.hp2 NA19000.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0004 a0002c0002t0002 a0002c0004t0004	a0002c0002t0002g0030 a0002c0002t0002g0044 a0002c0002t0002g0156 others(4): Show a0002c0002t0002g0030 a0002c0002t0002g0044 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0004t0004g0176	10	446	0.0224	21	c.137 others(38): Show c.137+1165_137+1185dupTATTATTATTATTATTATTAT		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6						chr9	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(14): Show ACACACACACACACCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0103 a0004c0004t0001g0103	1	436	0.0023	21	c.-22 others(36): Show c.-22-802_-22-801insGGGGGGGGGTGTGTGTGTGTG		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10						chr1	TogoVar
GCA_chr2_162339132_162368123	162345093	A A	ATGGTGGT others(14): Show ATGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02896.hp2 others(5): Show HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 NA19004.hp2 NA19058.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0003g0143 a0001c0001t0003g0144	8	366	0.0219	21	c.27+ others(34): Show c.27+841_27+861dupGGTGGTGGTGGTGGTGGTGGT		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(14): Show GGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG01496.hp2 others(4): Show HG01175.hp1 HG01192.hp2 HG01496.hp2 HG01943.hp2 HG01981.hp2 NA18982.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0002g0050 a0001c0001t0002g0155 a0001c0001t0003g0026 others(1): Show a0001c0001t0002g0050 a0001c0001t0002g0155 a0001c0001t0003g0026 a0001c0001t0010g0049	7	366	0.0191	21	c.27+ others(34): Show c.27+861_27+862insGGTGGTGGTTGTGGTTGTGGT		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(14): Show GGTGGTGGTTGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0009g0099 a0001c0001t0009g0100	2	366	0.0055	21	c.27+ others(34): Show c.27+861_27+862insGGTTGTGGTTGTGGTTGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCFC2_chr2_75657705_75715915	75668339	G G	GAAAACCA others(14): Show GAAAACCAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0005 a0006c0009t0005	a0006c0009t0005g0289 a0006c0009t0005g0289	1	404	0.0025	21	c.210 others(40): Show c.2103+1798_2103+1799insGTTTTGTTTTGTTTTGGTTTT		GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	15/16						chr2	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(14): Show CTCTTCCTCCTCCTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	392	0.0026	21	c.45+ others(38): Show c.45+14054_45+14055insAGAAGAAGAGGAGGAGGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(14): Show CTCTTCCTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0342 a0001c0001t0007g0342	1	392	0.0026	21	c.45+ others(38): Show c.45+14054_45+14055insAGAAGAAGAAGAAGAGGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTCCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18971.hp1 NA18946.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0059 a0001c0001t0002g0060	2	392	0.0051	21	c.45+ others(38): Show c.45+14054_45+14055insAGGAGAAGAAGAAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18956.hp1 NA19005.hp1 HG02080.hp1 NA18956.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0200 a0001c0001t0001g0335 a0001c0001t0001g0112 a0001c0001t0001g0200 a0001c0001t0001g0335	3	392	0.0077	21	c.45+ others(38): Show c.45+14034_45+14054dupAGAAGAAGAAGAAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(14): Show TCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02647.hp1 HG02896.hp1 others(11): Show HG02015.hp1 HG02647.hp1 HG02896.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp2 HG04199.hp2 NA18970.hp2 NA18983.hp1 NA18991.hp2 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0004t0004	a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0195 a0001c0001t0001g0233 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0096 a0001c0001t0004g0219 a0001c0001t0006g0178 a0001c0001t0012g0356 a0001c0004t0004g0262	14	392	0.0357	21	c.45+ others(38): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAG		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(31): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01891.hp1 HG01975.hp2 HG02129.hp1 HG02155.hp1 HG02257.hp1 HG02615.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18945.hp2 NA18951.hp2 NA18968.hp1 NA18968.hp2 NA18983.hp1 NA19007.hp1 NA19011.hp1 NA19060.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0147 others(31): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0002g0197 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0004g0298 a0001c0003t0001g0144	34	324	0.1049	21	c.925 others(38): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTT		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10538435	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	324	0.0031	21	c.925 others(38): Show c.925+8599_925+8600insTATATATATATATATATATAT		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4						chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582531	T T	TATATAAT others(14): Show TATATAATATATATCATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01099.hp2 others(4): Show HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0192 a0001c0001t0001g0287 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0006g0286	7	324	0.0216	21	c.926 others(40): Show c.926-38816_926-38815insAATATATATCATATATAATAT		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582531	T T	TATATAAT others(14): Show TATATAATATATATCATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01099.hp2 others(6): Show HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01358.hp1 NA18965.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0189 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0189 a0001c0001t0003g0238 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0295 a0001c0002t0001g0297	9	344	0.0262	21	c.919 others(40): Show c.919+25193_919+25194insAATATATATCATATATAATAT		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59611031	C C	CCCCTCCC others(14): Show CCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	428	0.0023	21	c.-12 others(32): Show c.-1201_-1200insCCCTCCCCCTCCCCTCCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					751		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 NA21309.hp2 HG01433.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0071 a0002c0005t0008g0072 a0002c0005t0008g0071 a0002c0005t0008g0072	2	354	0.0057	21	c.21 others(32): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276081	G G	GGATGCCG others(14): Show GGATGCCGAGGCAGGCGGATCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	392	0.0026	21	c.761 others(38): Show c.761-2875_761-2855dupGATGCCGAGGCAGGCGGATCA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP2_chr1_117858485_117934621	117859723	T T	TTTTGTGA others(14): Show TTTTGTGACTTTCACAATTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA19030.hp2 NA20129.hp1 others(1): Show HG02809.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0169 a0001c0001t0005g0018 a0001c0001t0005g0169	4	364	0.0110	21	c.10 others(34): Show c.10845_*10846insCAAAATTGTGAAAGTCACAAA		GDAP2	ENSG00000196505.11	transcript	ENST00000369443.10	protein_coding					3761		chr1	TogoVar
GDE1_chr16_19496693_19527098	19496887	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0191 a0001c0001t0018g0191	1	398	0.0025	21	c.65 others(32): Show c.6562_*6582dupTTTTTTTTTTTTTTTTTTTTT		GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding					4805		chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02970.hp1 HG03831.hp1 HG01167.hp2 HG02970.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	3	424	0.0071	21	c.278 others(36): Show c.278-467_278-447dupTTTTTTTTTTTTTTTTTTTTT		GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF1_chr19_18863545_18901158	18888890	T T	TATTCCAG others(14): Show TATTCCAGAATTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0299	1	380	0.0026	21	c.-91 others(40): Show c.-914+4525_-914+4526insGAAAGAAAGAAATTCTGGAAT		GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	2/7						chr19	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG02015.hp1 HG03017.hp1 others(10): Show HG00423.hp1 HG02015.hp1 HG03017.hp1 NA18947.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18990.hp1 NA19003.hp2 NA19007.hp2 NA19055.hp2 NA19075.hp2 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0021 a0004c0004 a0004c0021	a0004c0004t0004 a0004c0004t0032 a0004c0004t0035 others(6): Show a0004c0004t0004 a0004c0004t0032 a0004c0004t0035 a0004c0004t0038 a0004c0004t0039 a0004c0004t0070 a0004c0004t0072 a0004c0004t0080 a0004c0021t0148	a0004c0004t0004g0002 a0004c0004t0032g0002 a0004c0004t0035g0002 others(6): Show a0004c0004t0004g0002 a0004c0004t0032g0002 a0004c0004t0035g0002 a0004c0004t0038g0002 a0004c0004t0039g0002 a0004c0004t0070g0002 a0004c0004t0072g0002 a0004c0004t0080g0002 a0004c0021t0148g0004	13	442	0.0294	21	c.129 others(28): Show c.129_149dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly44_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450		INFO_REALIGN_3_PRIME	chr2	TogoVar
GDI1_chrX_154432154_154448467	154448072	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	283	0.0035	21	c.54 others(32): Show c.5400_*5401insTTTTTTTTTTTTTTTTTTTTT		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding					4606		chrX	TogoVar

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