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
MYO16_chr13_108624611_109213005	109107810	C C	CATATTAT others(8): Show CATATTATATTATATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01099.hp1 others(21): Show HG00621.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG06807.hp2 NA18989.hp2 NA18995.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0026 a0028 a0029 a0030	a0001c0002 a0002c0001 a0002c0020 others(9): Show a0001c0002 a0002c0001 a0002c0020 a0003c0004 a0004c0003 a0007c0006 a0010c0012 a0011c0021 a0026c0071 a0028c0048 a0029c0039 a0030c0055	a0001c0002t0001 a0001c0002t0006 a0001c0002t0021 others(15): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0021 a0002c0001t0001 a0002c0001t0002 a0002c0001t0019 a0002c0020t0001 a0002c0020t0003 a0003c0004t0002 a0004c0003t0001 a0007c0006t0001 a0007c0006t0004 a0010c0012t0013 a0011c0021t0001 a0026c0071t0003 a0028c0048t0001 a0029c0039t0001 a0030c0055t0002	a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0006g0068 others(21): Show a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0006g0068 a0001c0002t0021g0032 a0002c0001t0001g0016 a0002c0001t0001g0139 a0002c0001t0002g0059 a0002c0001t0002g0147 a0002c0001t0019g0125 a0002c0020t0001g0092 a0002c0020t0003g0042 a0003c0004t0002g0052 a0003c0004t0002g0086 a0003c0004t0002g0098 a0004c0003t0001g0115 a0007c0006t0001g0050 a0007c0006t0004g0015 a0007c0006t0004g0138 a0010c0012t0013g0013 a0011c0021t0001g0132 a0026c0071t0003g0067 a0028c0048t0001g0026 a0029c0039t0001g0141 a0030c0055t0002g0022	24	152	0.1579	15	c.343 others(34): Show c.3438+6943_3438+6957dupTATATTATATTATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	28/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109176577	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(16): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01981.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG06807.hp1 NA18989.hp1 NA18989.hp2 NA19030.hp1 NA19085.hp2 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0011 a0026 a0028	a0001c0002 a0001c0008 a0001c0022 others(9): Show a0001c0002 a0001c0008 a0001c0022 a0001c0061 a0002c0001 a0002c0069 a0003c0042 a0007c0006 a0008c0058 a0011c0021 a0026c0071 a0028c0048	a0001c0002t0001 a0001c0002t0017 a0001c0008t0004 others(13): Show a0001c0002t0001 a0001c0002t0017 a0001c0008t0004 a0001c0022t0003 a0001c0061t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0019 a0002c0069t0022 a0003c0042t0011 a0007c0006t0004 a0008c0058t0005 a0011c0021t0009 a0026c0071t0003 a0028c0048t0001	a0001c0002t0001g0034 a0001c0002t0001g0045 a0001c0002t0017g0111 others(16): Show a0001c0002t0001g0034 a0001c0002t0001g0045 a0001c0002t0017g0111 a0001c0008t0004g0058 a0001c0022t0003g0064 a0001c0061t0001g0031 a0002c0001t0001g0053 a0002c0001t0002g0144 a0002c0001t0003g0046 a0002c0001t0003g0105 a0002c0001t0003g0123 a0002c0001t0019g0125 a0002c0069t0022g0073 a0003c0042t0011g0113 a0007c0006t0004g0015 a0008c0058t0005g0080 a0011c0021t0009g0082 a0026c0071t0003g0067 a0028c0048t0001g0026	19	152	0.1250	15	c.532 others(34): Show c.5324-2955_5324-2941dupAAAAAAAAAAAAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109201491	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18906.hp2 HG02895.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0059 a0005c0013 a0001c0059 a0005c0013	a0001c0059t0008 a0005c0013t0008 a0001c0059t0008 a0005c0013t0008	a0001c0059t0008g0047 a0005c0013t0008g0040 a0001c0059t0008g0047 a0005c0013t0008g0040	2	152	0.0132	15	c.541 others(34): Show c.5416-5111_5416-5097dupAAAAAAAAAAAAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25945762	G G	GCCTCCCC others(8): Show GCCTCCCCTCGCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02559.hp2 others(5): Show HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp1 NA19030.hp1	a0004 a0006 a0011 others(3): Show a0004 a0006 a0011 a0026 a0073 a0081	a0004c0079 a0006c0027 a0006c0061 others(5): Show a0004c0079 a0006c0027 a0006c0061 a0011c0088 a0011c0122 a0026c0091 a0073c0121 a0081c0151	a0004c0079t0002 a0006c0027t0002 a0006c0061t0002 others(5): Show a0004c0079t0002 a0006c0027t0002 a0006c0061t0002 a0011c0088t0001 a0011c0122t0001 a0026c0091t0002 a0073c0121t0001 a0081c0151t0001	a0004c0079t0002g0103 a0006c0027t0002g0079 a0006c0061t0002g0074 others(5): Show a0004c0079t0002g0103 a0006c0027t0002g0079 a0006c0061t0002g0074 a0011c0088t0001g0220 a0011c0122t0001g0024 a0026c0091t0002g0082 a0073c0121t0001g0138 a0081c0151t0001g0017	8	228	0.0351	15	c.551 others(32): Show c.5518-366_5518-365insGCCTCCCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945772	C C	CCCTCCCC others(8): Show CCCTCCCCTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02818.hp1 HG02145.hp1 HG02615.hp2 HG02818.hp1	a0004 a0011 a0027 a0004 a0011 a0027	a0004c0053 a0011c0072 a0027c0070 a0004c0053 a0011c0072 a0027c0070	a0004c0053t0001 a0011c0072t0001 a0027c0070t0002 a0004c0053t0001 a0011c0072t0001 a0027c0070t0002	a0004c0053t0001g0101 a0011c0072t0001g0006 a0027c0070t0002g0225 a0004c0053t0001g0101 a0011c0072t0001g0006 a0027c0070t0002g0225	3	228	0.0132	15	c.551 others(32): Show c.5518-361_5518-360insCCCTCCCCTCGCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945832	C C	CCCTCCCC others(8): Show CCCTCCCCTCGCCTCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02055.hp2 HG02886.hp1	a0004 a0047 a0004 a0047	a0004c0085 a0047c0048 a0004c0085 a0047c0048	a0004c0085t0001 a0047c0048t0001 a0004c0085t0001 a0047c0048t0001	a0004c0085t0001g0108 a0047c0048t0001g0099 a0004c0085t0001g0108 a0047c0048t0001g0099	2	228	0.0088	15	c.551 others(32): Show c.5518-296_5518-295insGCCTCGCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945852	C C	CCCTCCCC others(8): Show CCCTCCCCTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp1 HG02717.hp1 NA20129.hp1	a0055 a0059 a0055 a0059	a0055c0057 a0059c0077 a0055c0057 a0059c0077	a0055c0057t0002 a0059c0077t0002 a0055c0057t0002 a0059c0077t0002	a0055c0057t0002g0077 a0059c0077t0002g0168 a0055c0057t0002g0077 a0059c0077t0002g0168	2	228	0.0088	15	c.551 others(32): Show c.5518-281_5518-280insCCCTCCCCTCGCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945857	G G	GCCTCCCC others(8): Show GCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0002 a0027c0070t0002	a0027c0070t0002g0225 a0027c0070t0002g0225	1	228	0.0044	15	c.551 others(32): Show c.5518-270_5518-256dupCCCTCCCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25997304	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG04228.hp2 NA18964.hp1 HG03041.hp2 HG04228.hp2 NA18964.hp1	a0013 a0022 a0049 a0013 a0022 a0049	a0013c0119 a0022c0148 a0049c0065 a0013c0119 a0022c0148 a0049c0065	a0013c0119t0001 a0022c0148t0001 a0049c0065t0001 a0013c0119t0001 a0022c0148t0001 a0049c0065t0001	a0013c0119t0001g0020 a0022c0148t0001g0197 a0049c0065t0001g0110 a0013c0119t0001g0020 a0022c0148t0001g0197 a0049c0065t0001g0110	3	228	0.0132	15	c.628 others(34): Show c.6287+4811_6287+4812insAAAAAAAAAAAAAAA	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	40/43			chr22	TogoVar
MYO19_chr17_36490636_36539868	36518525	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0034	1	373	0.0027	15	c.415 others(32): Show c.415-2536_415-2535insATATATATATATATA	MYO19	ENSG00000278259.5	transcript	ENST00000614623.5	protein_coding	6/25			chr17	TogoVar
MYO1B_chr2_191240404_191430386	191260254	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	170	0.0059	15	c.-10 others(34): Show c.-10+14641_-10+14642insTTTTTTTTTTTTTTT	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191300639	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01517.hp1 others(13): Show HG00642.hp2 HG01243.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp1 NA18949.hp2 NA18953.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0005	a0001c0001t0002g0032 a0001c0001t0002g0078 a0001c0001t0003g0100 others(13): Show a0001c0001t0002g0032 a0001c0001t0002g0078 a0001c0001t0003g0100 a0001c0001t0003g0109 a0001c0001t0003g0117 a0001c0001t0003g0139 a0001c0001t0007g0144 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0052 a0001c0003t0001g0080 a0001c0003t0005g0132 a0001c0003t0005g0133 a0001c0003t0005g0140	16	170	0.0941	15	c.251 others(32): Show c.251+4415_251+4429dupTTTTTTTTTTTTTTT	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191313192	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	170	0.0059	15	c.252 others(34): Show c.252-16722_252-16708dupTTTTTTTTTTTTTTT	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191360751	G G	GTGGTGTT others(8): Show GTGGTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0021 a0003c0015t0001g0021	1	170	0.0059	15	c.661 others(28): Show c.661+24_661+25insGTGTTGTTGTTGTTG	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191360751	G G	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	170	0.0059	15	c.661 others(28): Show c.661+46_661+60dupTTGTTGTTGTTGTTG	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1D_chr17_32487522_32882124	32569894	G G	GTCTAGTG others(8): Show GTCTAGTGTGTCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18983.hp2 HG00438.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0105 a0001c0001t0005g0147 a0001c0001t0002g0105 a0001c0001t0005g0147	2	244	0.0082	15	c.286 others(36): Show c.2864+35192_2864+35193insTGGGGACACACTAGA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59191369	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0012 a0001c0017t0012	a0001c0017t0012g0157 a0001c0017t0012g0157	1	226	0.0044	15	c.180 others(34): Show c.1806-3154_1806-3153insCTCTCTCTCTCTCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	17/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59217519	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp2 HG03453.hp2 HG01192.hp1 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0002 a0001c0004t0017 a0001c0012t0058 a0001c0002t0002 a0001c0004t0017 a0001c0012t0058	a0001c0002t0002g0029 a0001c0004t0017g0008 a0001c0012t0058g0226 a0001c0002t0002g0029 a0001c0004t0017g0008 a0001c0012t0058g0226	3	226	0.0133	15	c.110 others(32): Show c.1107+357_1107+371dupAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59241921	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG03195.hp2 HG02109.hp1 HG02258.hp1 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0002 a0001c0004t0020 a0001c0015t0028 a0001c0004t0002 a0001c0004t0020 a0001c0015t0028	a0001c0004t0002g0015 a0001c0004t0020g0060 a0001c0015t0028g0009 a0001c0004t0002g0015 a0001c0004t0020g0060 a0001c0015t0028g0009	3	226	0.0133	15	c.333 others(32): Show c.333-5264_333-5250dupATTTTATTTTATTTT	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	4/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59277564	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0005 a0001c0002t0010g0005	1	226	0.0044	15	c.4-5 others(28): Show c.4-5116_4-5115insGTTTTTTTTTTTTTT	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59297437	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02135.hp2 others(3): Show HG02055.hp1 HG02074.hp1 HG02135.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0048 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0048 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0092 a0001c0001t0048g0103 a0001c0002t0001g0108 others(3): Show a0001c0001t0002g0092 a0001c0001t0048g0103 a0001c0002t0001g0108 a0001c0002t0001g0202 a0001c0002t0003g0046 a0001c0002t0003g0176	6	226	0.0266	15	c.4-2 others(30): Show c.4-25003_4-24989dupAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp2 HG02145.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0020 a0001c0004t0017 a0001c0004t0020	a0001c0004t0017g0008 a0001c0004t0020g0213 a0001c0004t0017g0008 a0001c0004t0020g0213	2	226	0.0089	15	c.4-4 others(30): Show c.4-47116_4-47102dupAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8543687	G G	GTGGTGCT others(8): Show GTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	342	0.0029	15	c.152 others(32): Show c.1524+609_1524+610insGCACCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543798	G G	GTGGTGGT others(8): Show GTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	342	0.0029	15	c.152 others(32): Show c.1524+498_1524+499insGCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543840	G G	GTGCTGCT others(8): Show GTGCTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0001g0012 a0001c0001t0002g0013 a0001c0001t0002g0014	3	342	0.0088	15	c.152 others(32): Show c.1524+456_1524+457insGCACCACCAGCAGCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543874	T T	TGGCGGTG others(8): Show TGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	342	0.0029	15	c.152 others(32): Show c.1524+422_1524+423insGCCACCGCCACCGCC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574577	T T	TTCTTTCT others(8): Show TTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0079 a0001c0001t0022g0079	1	342	0.0029	15	c.3+2 others(28): Show c.3+2729_3+2730insGAGAAGAAAGAAAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574595	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTTCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0004 a0009c0019t0004	a0009c0019t0004g0056 a0009c0019t0004g0056	1	342	0.0029	15	c.3+2 others(28): Show c.3+2711_3+2712insAAGAAGAGAGAGAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8581130	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG01993.hp1 others(5): Show HG00642.hp2 HG01256.hp1 HG01993.hp1 HG02293.hp1 HG02922.hp1 HG03195.hp1 NA18522.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 a0001c0001 a0001c0006 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0001c0006t0002 a0001c0016t0003	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0292 others(5): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0292 a0001c0001t0004g0320 a0001c0006t0001g0309 a0001c0006t0001g0310 a0001c0006t0002g0311 a0001c0016t0003g0301	8	342	0.0234	15	c.-38 others(26): Show c.-3836_-3822dupAAAAAAAAAAAAAAA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding		3689		chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961516	A A	AGGGGCTG others(8): Show AGGGGCTGGGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01106.hp1 others(55): Show HG00639.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18948.hp2 NA18951.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA19009.hp2 NA19030.hp1 NA19081.hp2 NA19086.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0006 a0014c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 a0002c0006t0001 a0014c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0061 a0001c0002t0001g0094 a0001c0003t0001g0017 a0002c0005t0001g0006 a0002c0006t0001g0099 a0014c0015t0001g0065	58	378	0.1534	15	c.12 others(26): Show c.1222_*1223insCAGCCCCCCAGCCCC	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1145		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109353393	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03471.hp2 HG03491.hp2 others(2): Show HG01071.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0004 a0004c0009 a0010c0017 a0001c0004 a0004c0009 a0010c0017	a0001c0004t0001 a0001c0004t0007 a0004c0009t0003 others(1): Show a0001c0004t0001 a0001c0004t0007 a0004c0009t0003 a0010c0017t0003	a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0007g0206 others(2): Show a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0007g0206 a0004c0009t0003g0237 a0010c0017t0003g0238	5	312	0.0160	15	c.12+ others(30): Show c.12+5433_12+5447dupAAAAAAAAAAAAAAA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109412953	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0028 a0001c0006 a0001c0028	a0001c0006t0005 a0001c0028t0006 a0001c0006t0005 a0001c0028t0006	a0001c0006t0005g0298 a0001c0028t0006g0294 a0001c0006t0005g0298 a0001c0028t0006g0294	2	312	0.0064	15	c.150 others(32): Show c.1502+983_1502+997dupGTTGTTGTTGTTGTT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	14/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427907	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0161 a0001c0004t0002g0161	1	312	0.0032	15	c.194 others(32): Show c.1949+321_1949+322insTATATATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03017.hp1 HG02615.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0001 a0001c0003t0002 a0001c0004t0001	a0001c0003t0002g0280 a0001c0004t0001g0215 a0001c0003t0002g0280 a0001c0004t0001g0215	2	312	0.0064	15	c.194 others(32): Show c.1949+324_1949+325insAAATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0271 a0001c0003t0002g0271	1	312	0.0032	15	c.194 others(32): Show c.1949+323_1949+324insTATATATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO1H_chr12_109342900_109453379	109438086	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	312	0.0032	15	c.221 others(32): Show c.2210-443_2210-429dupAAAAAAAAAAAAAAA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	22/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109442795	C C	CTGCCTTT others(8): Show CTGCCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18975.hp1 NA18955.hp1 NA18975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0004 a0001c0005t0003g0094 a0001c0005t0003g0004 a0001c0005t0003g0094	2	312	0.0064	15	c.268 others(32): Show c.2688+524_2688+525insGCCTTTTTTTTTTTT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109452845	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0075 a0003c0002t0002g0075	1	312	0.0032	15	c.56 others(26): Show c.5663_*5664insTTTTTTTTTTTTTTT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding		4467		chr12	TogoVar
MYO3A_chr10_25929229_26217532	26077233	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG03492.hp1 others(1): Show HG00639.hp2 HG01891.hp1 HG03492.hp1 HG03704.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0001 a0001c0001t0002 a0006c0006t0001	a0001c0001t0002g0121 a0006c0006t0001g0013 a0006c0006t0001g0016 others(1): Show a0001c0001t0002g0121 a0006c0006t0001g0013 a0006c0006t0001g0016 a0006c0006t0001g0019	4	280	0.0143	15	c.135 others(34): Show c.1359+6840_1359+6854dupTTTTTTTTTTTTTTT	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO3A_chr10_25929229_26217532	26078130	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0007 a0004c0008t0007	a0004c0008t0007g0182 a0004c0008t0007g0182	1	280	0.0036	15	c.135 others(34): Show c.1359+7730_1359+7744dupTTTTTTTTTTTTTTT	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO3A_chr10_25929229_26217532	26081133	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	280	0.0036	15	c.136 others(34): Show c.1360-7058_1360-7057insCCCCCCCCCCCCCCC	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO3B_chr2_170173147_170660167	170407581	T T	TGCTCTGG others(8): Show TGCTCTGGATATGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(108): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18950.hp1 NA18959.hp2 NA18972.hp1 NA18972.hp2 NA18984.hp2 NA18998.hp2 NA19056.hp1 NA19065.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0025 a0031 a0032	a0001c0001 a0001c0002 a0001c0004 others(47): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0014 a0001c0027 a0001c0028 a0001c0037 a0001c0041 a0001c0066 a0001c0067 a0002c0006 a0003c0003 a0003c0015 a0003c0039 a0003c0062 a0003c0071 a0003c0079 a0004c0013 a0004c0019 a0004c0022 a0004c0026 a0004c0060 a0004c0061 a0004c0069 a0005c0012 a0005c0025 a0005c0047 a0005c0048 a0005c0059 a0006c0021 a0008c0017 a0008c0046 a0008c0056 a0008c0076 a0010c0045 a0011c0033 a0011c0055 a0014c0049 a0015c0064 a0017c0053 a0018c0031 a0019c0034 a0020c0038 a0021c0035 a0025c0043 a0031c0072 a0032c0080	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0009 a0001c0004t0010 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0007t0007 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0001c0027t0004 a0001c0028t0001 a0001c0037t0001 a0001c0041t0001 a0001c0066t0002 a0001c0067t0004 a0002c0006t0013 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0012 a0003c0015t0001 a0003c0039t0002 a0003c0062t0001 a0003c0071t0003 a0003c0079t0002 a0004c0013t0001 a0004c0013t0003 a0004c0013t0011 a0004c0019t0001 a0004c0022t0002 a0004c0026t0001 a0004c0060t0001 a0004c0061t0002 a0004c0069t0001 a0005c0012t0001 a0005c0012t0003 a0005c0012t0012 a0005c0025t0001 a0005c0047t0002 a0005c0048t0003 a0005c0059t0001 a0006c0021t0001 a0006c0021t0025 a0008c0017t0004 a0008c0017t0007 a0008c0046t0023 a0008c0056t0004 a0008c0076t0002 a0010c0045t0001 a0011c0033t0009 a0011c0055t0004 a0014c0049t0019 a0015c0064t0005 a0017c0053t0001 a0018c0031t0008 a0019c0034t0013 a0020c0038t0001 a0021c0035t0008 a0025c0043t0009 a0031c0072t0004 a0032c0080t0016	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 others(108): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0002g0026 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0003g0029 a0001c0001t0003g0035 a0001c0001t0004g0123 a0001c0001t0006g0134 a0001c0001t0011g0039 a0001c0001t0014g0046 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0003g0068 a0001c0002t0004g0153 a0001c0002t0007g0160 a0001c0004t0002g0149 a0001c0004t0004g0011 a0001c0004t0006g0013 a0001c0004t0007g0010 a0001c0004t0009g0002 a0001c0004t0010g0106 a0001c0005t0001g0056 a0001c0005t0001g0089 a0001c0005t0001g0095 a0001c0005t0003g0097 a0001c0005t0004g0112 a0001c0005t0005g0090 a0001c0007t0001g0025 a0001c0007t0002g0050 a0001c0007t0002g0051 a0001c0007t0003g0124 a0001c0007t0007g0133 a0001c0011t0001g0140 a0001c0011t0001g0166 a0001c0011t0003g0141 a0001c0014t0001g0169 a0001c0014t0002g0014 a0001c0014t0018g0001 a0001c0027t0004g0116 a0001c0027t0004g0117 a0001c0028t0001g0083 a0001c0028t0001g0110 a0001c0037t0001g0144 a0001c0041t0001g0119 a0001c0066t0002g0132 a0001c0067t0004g0128 a0002c0006t0013g0006 a0003c0003t0001g0032 a0003c0003t0001g0052 a0003c0003t0001g0076 a0003c0003t0002g0037 a0003c0003t0002g0058 a0003c0003t0003g0034 a0003c0003t0003g0048 a0003c0003t0003g0060 a0003c0003t0012g0047 a0003c0015t0001g0022 a0003c0015t0001g0173 a0003c0015t0001g0174 a0003c0039t0002g0162 a0003c0062t0001g0073 a0003c0071t0003g0100 a0003c0079t0002g0098 a0004c0013t0001g0004 a0004c0013t0003g0146 a0004c0013t0011g0168 a0004c0019t0001g0163 a0004c0019t0001g0171 a0004c0022t0002g0009 a0004c0026t0001g0093 a0004c0060t0001g0024 a0004c0061t0002g0049 a0004c0069t0001g0096 a0005c0012t0001g0121 a0005c0012t0003g0158 a0005c0012t0012g0161 a0005c0025t0001g0091 a0005c0025t0001g0102 a0005c0047t0002g0120 a0005c0048t0003g0019 a0005c0059t0001g0063 a0006c0021t0001g0148 a0006c0021t0025g0082 a0008c0017t0004g0156 a0008c0017t0007g0147 a0008c0046t0023g0005 a0008c0056t0004g0122 a0008c0076t0002g0135 a0010c0045t0001g0015 a0011c0033t0009g0151 a0011c0055t0004g0127 a0014c0049t0019g0003 a0015c0064t0005g0075 a0017c0053t0001g0040 a0018c0031t0008g0157 a0019c0034t0013g0170 a0020c0038t0001g0139 a0021c0035t0008g0085 a0025c0043t0009g0012 a0031c0072t0004g0114 a0032c0080t0016g0078	111	174	0.6379	15	c.252 others(32): Show c.2521-130_2521-116dupCTGGATATGAAAGCT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52329905	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp1 others(4): Show HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01257.hp1 HG01358.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0006 a0002c0002t0010 a0002c0020t0006 a0002c0002t0006 a0002c0002t0010 a0002c0020t0006	a0002c0002t0006g0130 a0002c0002t0006g0141 a0002c0002t0010g0111 others(4): Show a0002c0002t0006g0130 a0002c0002t0006g0141 a0002c0002t0010g0111 a0002c0002t0010g0112 a0002c0002t0010g0113 a0002c0002t0010g0114 a0002c0020t0006g0128	7	302	0.0232	15	c.455 others(32): Show c.4555+433_4555+447dupAAAAAAAAAAAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	35/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01069.hp2 others(12): Show HG00609.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01261.hp2 HG01515.hp2 HG02922.hp1 HG04199.hp2 NA19003.hp1 NA19010.hp2 NA19030.hp2 NA19063.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0010 a0001c0003 a0002c0002 a0002c0010	a0001c0003t0004 a0002c0002t0002 a0002c0002t0006 others(3): Show a0001c0003t0004 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0002c0002t0043 a0002c0010t0078	a0001c0003t0004g0142 a0002c0002t0002g0116 a0002c0002t0006g0092 others(12): Show a0001c0003t0004g0142 a0002c0002t0002g0116 a0002c0002t0006g0092 a0002c0002t0006g0105 a0002c0002t0006g0110 a0002c0002t0006g0126 a0002c0002t0006g0131 a0002c0002t0006g0133 a0002c0002t0010g0111 a0002c0002t0010g0112 a0002c0002t0010g0113 a0002c0002t0010g0114 a0002c0002t0010g0132 a0002c0002t0043g0084 a0002c0010t0078g0300	15	302	0.0497	15	c.220 others(34): Show c.2208+1095_2208+1109dupTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52431231	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp2 others(13): Show HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG02074.hp1 HG02135.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG03540.hp2 HG03927.hp1 NA18978.hp2 NA19043.hp1 NA19054.hp2 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0027 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0027 a0002c0002t0002 a0002c0002t0006 a0002c0002t0015 a0003c0005t0019 a0003c0005t0028	a0001c0001t0001g0166 a0001c0001t0001g0289 a0001c0001t0027g0157 others(13): Show a0001c0001t0001g0166 a0001c0001t0001g0289 a0001c0001t0027g0157 a0002c0002t0002g0088 a0002c0002t0002g0094 a0002c0002t0002g0107 a0002c0002t0002g0120 a0002c0002t0006g0104 a0002c0002t0006g0124 a0002c0002t0006g0127 a0002c0002t0015g0122 a0002c0002t0015g0129 a0003c0005t0019g0068 a0003c0005t0019g0071 a0003c0005t0019g0072 a0003c0005t0028g0069	16	302	0.0530	15	c.138 others(32): Show c.138+1929_138+1943dupTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	2/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52507803	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0131 a0002c0002t0006g0131	1	302	0.0033	15	c.27+ others(32): Show c.27+20976_27+20977insTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	1/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52533663	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01169.hp1 others(17): Show HG00438.hp1 HG00735.hp2 HG01169.hp1 HG01433.hp1 HG01496.hp1 HG02015.hp2 HG02257.hp2 HG02683.hp1 HG02698.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2 NA18954.hp1 NA18963.hp1 NA19067.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0003c0005	a0001c0001t0001 a0001c0001t0023 a0001c0001t0061 others(9): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0061 a0001c0003t0003 a0001c0003t0004 a0001c0003t0035 a0001c0003t0041 a0001c0004t0005 a0001c0004t0064 a0001c0004t0067 a0001c0012t0003 a0003c0005t0007	a0001c0001t0001g0282 a0001c0001t0023g0010 a0001c0001t0023g0285 others(17): Show a0001c0001t0001g0282 a0001c0001t0023g0010 a0001c0001t0023g0285 a0001c0001t0061g0016 a0001c0003t0003g0007 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0211 a0001c0003t0035g0273 a0001c0003t0035g0275 a0001c0003t0041g0243 a0001c0004t0005g0012 a0001c0004t0005g0019 a0001c0004t0005g0026 a0001c0004t0005g0030 a0001c0004t0005g0296 a0001c0004t0064g0018 a0001c0004t0067g0029 a0001c0012t0003g0277 a0003c0005t0007g0061	20	302	0.0662	15	c.-48 others(26): Show c.-4858_-4857insATTATTATTATTATT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding		4784		chr15	TogoVar
MYO5B_chr18_49817789_50200147	50030876	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	238	0.0042	15	c.455 others(32): Show c.455+5959_455+5973dupTTTTTTTTTTTTTTT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	4/39			chr18	TogoVar
MYO5B_chr18_49817789_50200147	50070018	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	238	0.0042	15	c.28- others(32): Show c.28-14655_28-14641dupAAAAAAAAAAAAAAA	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
MYO5B_chr18_49817789_50200147	50105249	A A	AAATAAAT others(8): Show AAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19000.hp1 HG04115.hp2 NA19000.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0022 a0001c0001t0001 a0004c0007t0022	a0001c0001t0001g0058 a0004c0007t0022g0193 a0001c0001t0001g0058 a0004c0007t0022g0193	2	238	0.0084	15	c.28- others(32): Show c.28-49872_28-49871insATTTATTTATTTATT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar

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