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
IYD_chr6_150364012_150410969	150372379	TGGGGGTG others(119): Show TGGGGGTGGGGTGGGGAGTGCTGAGGGGTCATGTTGTGTCCATGCTTATT AGACATGTGTGTGTGTGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGT GTCCATGCTTATTAGACATGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(53): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00621.hp1 HG01123.hp1 HG01261.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02293.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0027 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0056 a0001c0001t0059 a0001c0001t0069	a0001c0001t0001g0161 a0001c0001t0001g0276 a0001c0001t0002g0168 others(44): Show a0001c0001t0001g0161 a0001c0001t0001g0276 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0083 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0310 a0001c0001t0004g0311 a0001c0001t0006g0035 a0001c0001t0006g0182 a0001c0001t0007g0005 a0001c0001t0007g0153 a0001c0001t0007g0162 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0183 a0001c0001t0013g0170 a0001c0001t0013g0171 a0001c0001t0013g0184 a0001c0001t0013g0309 a0001c0001t0027g0005 a0001c0001t0027g0163 a0001c0001t0047g0166 a0001c0001t0048g0165 a0001c0001t0049g0176 a0001c0001t0051g0172 a0001c0001t0056g0174 a0001c0001t0059g0035 a0001c0001t0069g0181	56	414	0.1353	-126	c.178 others(17): Show c.178+3239_178+3364del		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
KATNIP_chr16_27545144_27785344	27661951	TATATACA others(119): Show TATATACACATACATATATATATATATATATATATACACATACATATATA TATATATATATATATACACATACATATATATATATATATATACACATACA TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG03540.hp1 HG02451.hp1 HG03209.hp2 HG03540.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0007c0016 a0004c0007 a0007c0016	a0004c0007t0010 a0004c0007t0012 a0007c0016t0001 a0004c0007t0010 a0004c0007t0012 a0007c0016t0001	a0004c0007t0010g0108 a0004c0007t0012g0106 a0007c0016t0001g0076 a0004c0007t0010g0108 a0004c0007t0012g0106 a0007c0016t0001g0076	3	152	0.0197	-126	c.540 others(19): Show c.540+13222_540+13347del		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	15048604	CTGGGTCG others(119): Show CTGGGTCGCTGGTCCTGGGTCGTCGGTCCTGGGTCGTCGGTCCTGGGTCG TCGGTCCTGGGTCGCTGGTCCTGGGTCGTTGGTCCTGGGTCGTTGATCCT TGGTCGTTGGTCCTGGGTCGTTGGTCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG01891.hp1 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0094 a0001c0003t0004g0141 a0001c0003t0004g0094 a0001c0003t0004g0141	2	146	0.0137	-126	c.726 others(17): Show c.726+4453_726+4578del		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178759344	GATATATA others(119): Show GATATATATATATATATATCTCCAAGAGGATATATATATATATATATCTC TCCAAGAGGATATATATATATATATATATCTCTCCAAGAGGATATATATA TATATATATATATATCTCCAAGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	232	0.0043	-126	c.-67 others(19): Show c.-67-47958_-67-47833del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759951	TCCAAGAG others(119): Show TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATCTATATATATATATATATATATCCAAG AGGATATATCTATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG02165.hp1 others(6): Show HG00642.hp1 HG00741.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG04115.hp2 NA18989.hp2 NA18999.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0052 others(6): Show a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0110 a0001c0001t0002g0194 a0001c0002t0001g0011 a0001c0002t0001g0189 a0001c0003t0002g0013 a0001c0003t0002g0014	9	232	0.0388	-126	c.-67 others(19): Show c.-67-47377_-67-47252del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63432458	CTCCACCC others(119): Show CTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGG AAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTC AGGGAAGGCTCCACCCTCAGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0072 a0001c0002t0068 a0001c0002t0072	a0001c0002t0068g0033 a0001c0002t0072g0173 a0001c0002t0068g0033 a0001c0002t0072g0173	2	330	0.0061	-126	c.111 others(19): Show c.1119-1215_1119-1090del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCTD8_chr4_44168903_44453809	44431229	TTCTGATA others(119): Show TTCTGATACACCCCCATTCTCACAAAAGCACAATAATTATTTCTTCAGTT TCTCTCCTATCCACCCCTTTTCCCAAAGGCCTTTCTTGTTACAATCCACT CCCTTCATGTCTTCTCTTGTCTCAGTA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18941.hp1 NA18969.hp1 NA18940.hp2 NA18941.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034	3	294	0.0102	-126	c.961 others(19): Show c.961+16208_961+16333del		KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1						chr4	TogoVar
KIF4A_chrX_70285104_70425886	70373624	ACGTATAT others(119): Show ACGTATATATATACATATATACGTGTATATATATACGTATATATATACAT ATATACGTGTATATATATACGTATATATATACACATATACGTGTATATAT ATACGTATATATATACATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0012 a0001c0006t0005g0012	1	259	0.0039	-126	c.167 others(17): Show c.1675-526_1675-401del		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30						chrX	TogoVar
KRTAP10-6_chr21_44586268_44597505	44591710	CTGGCTGG others(119): Show CTGGCTGGCAGCTAGACTGCTGGCAGCATGAAGAGGAATCCTCAGAGCAG GTGGGCACACAGCACACAGGCACGCAGCAGACGGGCACGCAGCAGGCCTG CTGGCAGGGGGAGGAGGTGCAGCAAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0027 a0027	a0027c0050 a0027c0050	a0027c0050t0001 a0027c0050t0001	a0027c0050t0001g0000 a0027c0050t0001g0000	1	428	0.0023	-126	c.649 others(7): Show c.649_774del	p.Thr others(13): Show p.Thr217_Pro258del	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	795/1238	649/1098	217/365			chr21	TogoVar
KSR2_chr12_117448012_117973990	117567732	CCCAACTG others(119): Show CCCAACTGAGCATTCTGGTCTCATGTGAGTTCCCCTGTGGTCTCTTGTTT GAGCCAATGCTTCTAGAAATGACTCCGTACGCTCCAAGTGCAGGATATCA AAACCAAAAGTGCAGGTTCACTGCATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp1 HG03098.hp1 HG01243.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0135 a0001c0001t0137 a0001c0001t0087 a0001c0001t0135 a0001c0001t0137	a0001c0001t0087g0060 a0001c0001t0135g0135 a0001c0001t0137g0082 a0001c0001t0087g0060 a0001c0001t0135g0135 a0001c0001t0137g0082	3	196	0.0153	-126	c.132 others(19): Show c.1326-9285_1326-9160del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	7/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117567803	ACTCCGTA others(119): Show ACTCCGTACGCTCCAAGTGCAGGATATCAAAACCAAAAGTGCAGGTTCAC TGCATACCAACTGAGCATTCTGGTCTCATGTGAGTTCCCCTGTGGTCTCT TGTTTGAGCCAGTGCTTCTAGAAATGC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	196	0.0051	-126	c.132 others(19): Show c.1326-9356_1326-9231del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	7/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117567821	GCAGGATA others(119): Show GCAGGATATCAAAACCAAAAGTGCAGGTTCACTGCATACCAACTGAGCAT TCTGGTCTCATGTGAGTTCCCCTGTGGTCTCTTGTTTGAGCCAGTGCTTC TAGAAATGCCTCCGTATGCTCCAAGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02630.hp2 others(1): Show HG02109.hp2 HG02559.hp1 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0089 a0001c0003t0005 a0001c0003t0089	a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0145 others(1): Show a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0145 a0001c0003t0089g0177	4	196	0.0204	-126	c.132 others(19): Show c.1326-9374_1326-9249del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	7/19						chr12	TogoVar
LAMA1_chr18_6936742_7122797	7098703	ATCCGGGA others(119): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCACCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(53): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18953.hp1 NA18953.hp2 NA18979.hp1 NA18988.hp1 NA18995.hp2 NA19010.hp1 NA19082.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0015 a0026 a0027 a0033 a0037 a0040 a0049 a0051 a0052 a0061 a0069 a0078 a0082 a0084 a0086 a0093 a0098 a0109 a0122	a0001c0001 a0001c0002 a0001c0004 others(44): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0076 a0001c0089 a0001c0091 a0001c0106 a0002c0003 a0002c0007 a0002c0016 a0002c0079 a0002c0090 a0003c0103 a0003c0159 a0004c0084 a0004c0108 a0005c0006 a0006c0008 a0006c0204 a0007c0013 a0008c0131 a0008c0132 a0009c0150 a0012c0120 a0012c0154 a0013c0026 a0015c0078 a0015c0173 a0026c0085 a0027c0148 a0033c0093 a0037c0111 a0040c0193 a0049c0127 a0051c0194 a0052c0125 a0061c0209 a0069c0198 a0078c0129 a0082c0052 a0084c0063 a0086c0175 a0093c0049 a0098c0051 a0109c0167 a0122c0096	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0010t0002 a0001c0076t0002 a0001c0089t0002 a0001c0091t0001 a0001c0106t0002 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0016t0002 a0002c0079t0001 a0002c0090t0002 a0003c0103t0002 a0003c0159t0002 a0004c0084t0002 a0004c0108t0002 a0005c0006t0001 a0006c0008t0002 a0006c0204t0002 a0007c0013t0001 a0008c0131t0002 a0008c0132t0001 a0009c0150t0001 a0012c0120t0002 a0012c0154t0002 a0013c0026t0002 a0015c0078t0002 a0015c0173t0001 a0026c0085t0002 a0027c0148t0001 a0033c0093t0002 a0037c0111t0002 a0040c0193t0001 a0049c0127t0002 a0051c0194t0002 a0052c0125t0001 a0061c0209t0001 a0069c0198t0001 a0078c0129t0001 a0082c0052t0002 a0084c0063t0005 a0086c0175t0001 a0093c0049t0001 a0098c0051t0001 a0109c0167t0001 a0122c0096t0001	a0001c0001t0001g0165 a0001c0001t0002g0024 a0001c0001t0002g0094 others(53): Show a0001c0001t0001g0165 a0001c0001t0002g0024 a0001c0001t0002g0094 a0001c0002t0001g0198 a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0109 a0001c0004t0001g0232 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0010t0002g0098 a0001c0076t0002g0042 a0001c0089t0002g0055 a0001c0091t0001g0267 a0001c0106t0002g0029 a0002c0003t0001g0143 a0002c0003t0001g0154 a0002c0003t0002g0105 a0002c0007t0001g0197 a0002c0016t0002g0041 a0002c0079t0001g0152 a0002c0090t0002g0021 a0003c0103t0002g0045 a0003c0159t0002g0091 a0004c0084t0002g0050 a0004c0108t0002g0052 a0005c0006t0001g0157 a0006c0008t0002g0014 a0006c0204t0002g0046 a0007c0013t0001g0233 a0008c0131t0002g0002 a0008c0132t0001g0272 a0009c0150t0001g0266 a0012c0120t0002g0051 a0012c0154t0002g0017 a0013c0026t0002g0048 a0015c0078t0002g0054 a0015c0173t0001g0261 a0026c0085t0002g0119 a0027c0148t0001g0278 a0033c0093t0002g0049 a0037c0111t0002g0044 a0040c0193t0001g0216 a0049c0127t0002g0077 a0051c0194t0002g0043 a0052c0125t0001g0268 a0061c0209t0001g0195 a0069c0198t0001g0273 a0078c0129t0001g0271 a0082c0052t0002g0118 a0084c0063t0005g0194 a0086c0175t0001g0174 a0093c0049t0001g0206 a0098c0051t0001g0276 a0109c0167t0001g0177 a0122c0096t0001g0275	56	278	0.2014	-126	c.62- others(17): Show c.62-18372_62-18247del		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	7098747	ACCCCGTC others(119): Show ACCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCACCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp1 HG02109.hp1 others(3): Show HG01175.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp2 HG03139.hp1 NA19043.hp2	a0014 a0024 a0046 others(3): Show a0014 a0024 a0046 a0053 a0064 a0094	a0014c0064 a0024c0199 a0046c0168 others(3): Show a0014c0064 a0024c0199 a0046c0168 a0053c0213 a0064c0053 a0094c0047	a0014c0064t0002 a0024c0199t0001 a0046c0168t0001 others(3): Show a0014c0064t0002 a0024c0199t0001 a0046c0168t0001 a0053c0213t0001 a0064c0053t0001 a0094c0047t0001	a0014c0064t0002g0032 a0024c0199t0001g0258 a0046c0168t0001g0239 others(3): Show a0014c0064t0002g0032 a0024c0199t0001g0258 a0046c0168t0001g0239 a0053c0213t0001g0256 a0064c0053t0001g0257 a0094c0047t0001g0255	6	278	0.0216	-126	c.62- others(17): Show c.62-18416_62-18291del		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	7098756	AGGAGGTG others(119): Show AGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCACCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG04184.hp2 NA19066.hp2 HG01934.hp1 HG04184.hp2 NA19066.hp2	a0005 a0007 a0024 a0005 a0007 a0024	a0005c0006 a0007c0088 a0024c0179 a0005c0006 a0007c0088 a0024c0179	a0005c0006t0002 a0007c0088t0002 a0024c0179t0001 a0005c0006t0002 a0007c0088t0002 a0024c0179t0001	a0005c0006t0002g0093 a0007c0088t0002g0023 a0024c0179t0001g0212 a0005c0006t0002g0093 a0007c0088t0002g0023 a0024c0179t0001g0212	3	278	0.0108	-126	c.62- others(17): Show c.62-18425_62-18300del		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62						chr18	TogoVar
LCN15_chr9_136754634_136769518	136769373	CCCCCCGC others(119): Show CCCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCC CCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCC CGACACCCCGACACCCCCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	356	0.0028	-126	c.-50 others(11): Show c.-5011_-4886del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4856		chr9	TogoVar
LRBA_chr4_150259435_151020284	150658505	GTCTCCCT others(119): Show GTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTGCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0123 a0001c0019t0002g0123	1	180	0.0056	-126	c.592 others(21): Show c.5921+24920_5921+25045del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(119): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02273.hp1 HG02630.hp2 others(7): Show HG01975.hp2 HG02273.hp1 HG02630.hp2 HG03041.hp1 HG03195.hp1 NA18906.hp1 NA18966.hp1 NA18969.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0037 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0226 a0001c0001t0003g0025 a0001c0001t0003g0164	10	238	0.0420	-126	c.179 others(19): Show c.1791+1311_1792-1405del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRCH2_chrX_115105616_115239096	115125448	TATATATA others(119): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp1 HG01257.hp2 others(5): Show HG00558.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01891.hp1 NA18948.hp1 NA18994.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0174 a0001c0001t0002g0175 others(5): Show a0001c0001t0002g0039 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0192	8	238	0.0336	-126	c.179 others(19): Show c.1791+1269_1791+1394del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRRFIP1_chr2_237622587_237786643	237647679	AGCAGGGT others(119): Show AGCAGGGTCACGCCCTGTCACCCCGTGGCCGGCCACTCACTGCAGGCAGG TGGAGGGAGCAGGAGCAGGGTCACGCCCTGTCACCCCGTGGCCGGCCACT CACTGCAGGCAGGTGGAGGGAGCAGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03453.hp2 HG03516.hp2 HG00642.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0042 a0001c0002t0018 a0001c0001t0001 a0001c0001t0042 a0001c0002t0018	a0001c0001t0001g0104 a0001c0001t0042g0100 a0001c0002t0018g0220 a0001c0001t0001g0104 a0001c0001t0042g0100 a0001c0002t0018g0220	3	276	0.0109	-126	c.96+ others(17): Show c.96+19958_96+20083del		LRRFIP1	ENSG00000124831.20	transcript	ENST00000308482.14	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
LY6E_chr8_143013529_143027409	143015254	GGGAGGGA others(119): Show GGGAGGGAGTGCCGTGTGAGGGGGAGGGAGTCCCGTGTGAGGAGGAGGGA GTGCCGTGTGAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAGTCCTGTG TGAGGAGGAGGGAGTGCCGTGTGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp2 others(39): Show HG00438.hp1 HG00544.hp2 HG00673.hp2 HG00741.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02300.hp2 HG02738.hp1 HG02922.hp2 HG03209.hp1 HG03491.hp1 HG03834.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18950.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0003g0004 others(4): Show a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0003g0004 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0013	42	377	0.1114	-126	c.-33 others(11): Show c.-3389_-3264del		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3274		chr8	TogoVar
MAGEB6_chrX_26187440_26200646	26194092	CGATGTGG others(119): Show CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTG ATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCT GATGCAGGTGTTTCAGGCTCAAAATAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00408.hp1 HG00597.hp1 others(32): Show HG00099.hp2 HG00408.hp1 HG00597.hp1 HG00597.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02897.hp1 HG02970.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18977.hp1 NA18981.hp1 NA18992.hp2 NA18998.hp2 NA19009.hp1 NA19078.hp1 NA19084.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0012 a0002c0002 a0013c0012	a0002c0002t0001 a0013c0012t0001 a0002c0002t0001 a0013c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0017 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0017 a0013c0012t0001g0001	35	320	0.1094	-126	c.288 others(7): Show c.288_413del	p.Ser others(12): Show p.Ser97_Thr138del	MAGEB6	ENSG00000176746.6	transcript	ENST00000379034.1	protein_coding	2/2	437/1949	288/1224	96/407		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI2_chr7_78012055_79458667	79135942	AGAAAGAA others(119): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAG AAAGAAGGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	40	0.0250	-126	c.302 others(21): Show c.302-128862_302-128737del		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452225	GAAGAGAA others(119): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 NA18612.hp1 others(1): Show HG00140.hp1 HG01515.hp1 NA18612.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0004g0010	4	163	0.0245	-126	c.995 others(17): Show c.995+4562_995+4687del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452262	AGAGAAGA others(119): Show AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAG AAGAGAAGAGAAGAGAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	163	0.0061	-126	c.995 others(17): Show c.995+4525_995+4650del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAPK11_chr22_50258713_50275380	50274644	TCTCCCAG others(119): Show TCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCAC CTCCCCCAGTACCCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCC AGCCCCCTCCACTTCCCCCCAGCACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(64): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01981.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02647.hp2 HG02735.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18942.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19063.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0022 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0003g0015 a0001c0002t0002g0009 a0001c0002t0002g0018 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0003t0001g0014 a0001c0003t0001g0119	67	428	0.1565	-126	c.-44 others(11): Show c.-4478_-4353del		MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding					4265		chr22	TogoVar
MBD5_chr2_148016091_148521971	148345441	ATATACAC others(119): Show ATATACACATACACATATACATATGTATATACACATACATATACATATGT ATATACACATACATATACATATGTATATACACATACATATGTATATACAC ATATACACATACATATGTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00673.hp2 others(62): Show HG00280.hp2 HG00323.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01261.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18962.hp2 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18985.hp2 NA18995.hp2 NA19003.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA20129.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0002t0003 a0001c0002t0015 a0001c0005t0002 a0001c0009t0002 a0007c0011t0005	a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 others(62): Show a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0002g0008 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0068 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0137 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0182 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0004g0065 a0001c0001t0004g0096 a0001c0001t0004g0158 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0006g0074 a0001c0001t0006g0112 a0001c0001t0006g0152 a0001c0001t0006g0160 a0001c0001t0006g0180 a0001c0001t0008g0015 a0001c0001t0010g0033 a0001c0001t0011g0154 a0001c0001t0013g0166 a0001c0001t0014g0151 a0001c0001t0016g0139 a0001c0001t0017g0079 a0001c0001t0018g0009 a0001c0001t0019g0146 a0001c0001t0021g0097 a0001c0001t0025g0181 a0001c0002t0003g0100 a0001c0002t0015g0056 a0001c0005t0002g0002 a0001c0009t0002g0043 a0007c0011t0005g0057	65	188	0.3457	-126	c.-55 others(19): Show c.-557+3118_-557+3243del		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
ME1_chr6_83205402_83436051	83243432	TATATAAT others(119): Show TATATAATATATTATATAATTAGATTATATTTATATATTTATATAATCTA TTATAATTATGTTATATTGATATAATCTATTATAATTATATTATATCGAT ATAATCTATTATAATTATATTATATCG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01358.hp2 others(13): Show HG00741.hp1 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0012 a0001c0001 a0001c0005 a0004c0012	a0001c0001t0002 a0001c0005t0002 a0004c0012t0002 a0001c0001t0002 a0001c0005t0002 a0004c0012t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 others(13): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0101 a0001c0001t0002g0123 a0001c0005t0002g0024 a0001c0005t0002g0027 a0001c0005t0002g0028 a0004c0012t0002g0031	16	272	0.0588	-126	c.815 others(17): Show c.815-3922_815-3797del		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	7/13						chr6	TogoVar
MED16_chr19_862963_898187	873034	GGTGGGGC others(119): Show GGTGGGGCAGGGCTCCGAGGTGGGGCAGGGCTCCGAGGTGGGGGAGGGCT CCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGATGGGGCAG GGCTCCGAGGTGGGGCAGGGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18970.hp1 NA18973.hp2 others(1): Show HG01099.hp1 NA18970.hp1 NA18973.hp2 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0001 a0003c0010t0001 a0001c0002t0001 a0003c0010t0001	a0001c0002t0001g0019 a0001c0002t0001g0037 a0001c0002t0001g0047 others(1): Show a0001c0002t0001g0019 a0001c0002t0001g0037 a0001c0002t0001g0047 a0003c0010t0001g0051	4	56	0.0714	-126	c.190 others(17): Show c.1905+289_1905+414del		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MEF2A_chr15_99560984_99721488	99602653	GGTGTGTG others(119): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGG GGTGGGGAGCTTTTTGTGTGTGTGTGTGGGGGGGTGGGGGTGGGGAGCTT TTCGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0114 a0014c0029t0114	a0014c0029t0114g0040 a0014c0029t0114g0040	1	376	0.0027	-126	c.-14 others(19): Show c.-143+4163_-143+4288del		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
METRNL_chr17_83074609_83100122	83090380	CACACCCC others(119): Show CACACCCCCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCC CACACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACACCCCCGCCCCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp2 HG03927.hp1 others(1): Show HG00438.hp2 HG02132.hp2 HG03927.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0303 a0001c0001t0002g0117 a0001c0001t0002g0331 others(1): Show a0001c0001t0001g0303 a0001c0001t0002g0117 a0001c0001t0002g0331 a0001c0003t0002g0287	4	399	0.0100	-126	c.557 others(17): Show c.557-2786_557-2661del		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3						chr17	TogoVar
MMS22L_chr6_97137161_97288216	97191452	AGGAAAAT others(119): Show AGGAAAATTAAAATTGTCTATTGATGGACTTTTCATCACATGGAAAAAGC ATAATATAATAAATATGACTGGTAAGGATTAACAGCAATAATTGAATTCT TTTAACTCTACTGCAAACATGGTAACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02647.hp2 others(1): Show HG02145.hp1 HG02280.hp2 HG02647.hp2 HG02818.hp1	a0005 a0005	a0005c0008 a0005c0009 a0005c0008 a0005c0009	a0005c0008t0040 a0005c0008t0041 a0005c0009t0018 a0005c0008t0040 a0005c0008t0041 a0005c0009t0018	a0005c0008t0040g0003 a0005c0008t0041g0002 a0005c0009t0018g0004 others(1): Show a0005c0008t0040g0003 a0005c0008t0041g0002 a0005c0009t0018g0004 a0005c0009t0018g0066	4	292	0.0137	-126	c.204 others(19): Show c.2040-4888_2040-4763del		MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	14/24						chr6	TogoVar
MTBP_chr8_120440419_120528636	120521872	ATGGGAGA others(119): Show ATGGGAGAGTAATGCAGCATTAGTGGATGCTCACGGTGGAGGGTGGGAGA GTAATGCAGCATTAGTGGATGCTCACGGTGGAGGGTGGGAGAGTAATGCA GCATTAGTGGATGCTCACGGTGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	352	0.0028	-126	c.261 others(17): Show c.2611-740_2611-615del		MTBP	ENSG00000172167.8	transcript	ENST00000305949.6	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUSK_chr9_110663791_110811558	110690511	AATATATA others(119): Show AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TATTTAAATATAAGTATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	326	0.0031	-126	c.358 others(17): Show c.358+3282_358+3407del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA7_chr17_76674566_76715965	76706143	ACTGCCGT others(119): Show ACTGCCGTCACAGAGGCCCACGCTGCCGTCACAGAGGCCCACGCTGCCAT CACAGAGGCCCACGCTGCCATCACAAAGGCCCACTCTGCCGTCACAGAGG CCCACTCTGCCATCACAGAGGCCCACG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0342	1	416	0.0024	-126	c.342 others(17): Show c.342+4336_342+4461del		MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3						chr17	TogoVar
MYZAP_chr15_57586904_57690364	57689766	GATATATA others(119): Show GATATATACGTATATAATATATACATGTATGATATATGATATACGTATAT CATATATTATATATTATATACGTATATCATATATAATATATACTATATCA TATATATGATATAGTATATATTATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01516.hp2 NA20905.hp1 HG00099.hp1 HG01516.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0032	3	352	0.0085	-126	c.52 others(11): Show c.5269_*5394del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					4403		chr15	TogoVar
NCBP2L_chrX_107772733_107800829	107782242	TATATATA others(119): Show TATATATAAATATATATATAAATATATATATATAAATATATATAAATATA TATATATAAATATATATATAAATATATATATATAAATATATATATAAATA TATATATATAAATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0104 a0002c0003t0003g0104	1	303	0.0033	-126	c.-73 others(17): Show c.-73+4392_-73+4517del		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NEU4_chr2_241804193_241822413	241807572	TCCCCCCT others(119): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	319	0.0031	-126	c.-17 others(11): Show c.-1705_-1580del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1620		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807814	TCCCCCCT others(119): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	319	0.0031	-126	c.-14 others(11): Show c.-1463_-1338del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1378		chr2	TogoVar
NGEF_chr2_232873701_233018256	232906383	CGGGAGGG others(119): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCACCCCGTCT GGGAGGTGAGGGGCACCTCCCTCCGGCCACCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCACCACCCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0238 a0001c0001t0016g0238	1	362	0.0028	-126	c.829 others(19): Show c.829-11593_829-11468del		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232906432	TGGGAGGT others(119): Show TGGGAGGTGAGGGGCACCTCCCTCCGGCCACCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACCACCCCGTGTGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGTCAGCCGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	362	0.0028	-126	c.829 others(19): Show c.829-11642_829-11517del		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NHLRC4_chr16_562005_574495	571103	GTGTGTCT others(119): Show GTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCACCCGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGTTAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-126	c.26 others(11): Show c.2685_*2810del		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1609		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381749	GGCTGAGG others(119): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGTTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0106 a0001c0106	a0001c0106t0002 a0001c0106t0002	a0001c0106t0002g0268 a0001c0106t0002g0268	1	428	0.0023	-126	c.305 others(9): Show c.3057_3182del	p.Asp others(15): Show p.Asp1020_Ala1061del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5929/6369	3057/3486	1019/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381814	TTGGAGCT others(119): Show TTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTG AGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGG TGTCTTGATATTATCATCTGCTGAGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0085 a0085	a0085c0065 a0085c0065	a0085c0065t0004 a0085c0065t0004	a0085c0065t0004g0058 a0085c0065t0004g0058	1	428	0.0023	-126	c.299 others(9): Show c.2992_3117del	p.Pro others(14): Show p.Pro998_Pro1039del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5864/6369	2992/3486	998/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381976	CGGAAGGT others(119): Show CGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGC AGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGA GGGTGGAAGGGGAGTGAGCTGACGTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(61): Show a0001 a0004 a0005 a0006 a0007 a0009 a0011 a0013 a0014 a0018 a0020 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0033 a0038 a0039 a0041 a0043 a0045 a0049 a0052 a0053 a0054 a0056 a0057 a0058 a0061 a0062 a0063 a0065 a0067 a0070 a0072 a0074 a0076 a0077 a0079 a0080 a0082 a0084 a0086 a0087 a0088 a0089 a0090 a0093 a0095 a0096 a0097 a0100 a0102 a0104 a0105 a0106 a0112 a0113 a0116 a0120 a0121	a0001c0001 a0001c0014 a0001c0024 others(78): Show a0001c0001 a0001c0014 a0001c0024 a0001c0103 a0001c0107 a0001c0111 a0001c0120 a0001c0148 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0007c0094 a0007c0118 a0009c0010 a0009c0040 a0011c0011 a0013c0019 a0013c0060 a0014c0015 a0018c0018 a0020c0017 a0022c0031 a0022c0039 a0025c0023 a0026c0021 a0027c0044 a0027c0121 a0028c0029 a0028c0116 a0029c0028 a0030c0043 a0030c0132 a0033c0104 a0033c0147 a0038c0049 a0039c0042 a0041c0035 a0043c0153 a0043c0154 a0045c0048 a0049c0045 a0052c0139 a0053c0086 a0054c0140 a0056c0138 a0057c0145 a0058c0101 a0061c0089 a0062c0146 a0063c0064 a0065c0112 a0067c0057 a0070c0090 a0072c0058 a0074c0059 a0076c0102 a0077c0159 a0079c0109 a0080c0141 a0082c0097 a0084c0095 a0086c0055 a0087c0083 a0088c0150 a0089c0088 a0090c0142 a0093c0135 a0095c0158 a0096c0091 a0097c0113 a0100c0070 a0102c0099 a0104c0093 a0105c0123 a0106c0136 a0112c0072 a0113c0157 a0116c0129 a0120c0119 a0121c0137	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(89): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0014t0002 a0001c0024t0002 a0001c0103t0002 a0001c0107t0002 a0001c0111t0002 a0001c0120t0039 a0001c0148t0002 a0004c0004t0003 a0004c0004t0031 a0005c0005t0007 a0005c0005t0008 a0005c0005t0019 a0005c0005t0020 a0006c0006t0003 a0006c0006t0017 a0007c0007t0002 a0007c0094t0002 a0007c0118t0002 a0009c0010t0002 a0009c0040t0002 a0011c0011t0003 a0011c0011t0013 a0013c0019t0001 a0013c0019t0005 a0013c0060t0001 a0014c0015t0002 a0018c0018t0001 a0020c0017t0001 a0022c0031t0002 a0022c0039t0002 a0025c0023t0002 a0026c0021t0001 a0027c0044t0001 a0027c0121t0001 a0028c0029t0009 a0028c0116t0035 a0029c0028t0001 a0030c0043t0001 a0030c0132t0001 a0033c0104t0002 a0033c0147t0002 a0038c0049t0003 a0039c0042t0002 a0041c0035t0001 a0043c0153t0001 a0043c0154t0001 a0045c0048t0003 a0049c0045t0001 a0052c0139t0002 a0053c0086t0001 a0054c0140t0002 a0056c0138t0002 a0057c0145t0003 a0058c0101t0002 a0061c0089t0002 a0062c0146t0003 a0063c0064t0009 a0065c0112t0002 a0067c0057t0001 a0070c0090t0007 a0072c0058t0002 a0074c0059t0001 a0076c0102t0002 a0077c0159t0008 a0079c0109t0002 a0080c0141t0003 a0082c0097t0002 a0084c0095t0002 a0086c0055t0011 a0087c0083t0010 a0088c0150t0001 a0089c0088t0002 a0090c0142t0034 a0093c0135t0038 a0095c0158t0040 a0096c0091t0018 a0097c0113t0002 a0100c0070t0001 a0102c0099t0002 a0104c0093t0002 a0105c0123t0001 a0106c0136t0024 a0112c0072t0001 a0113c0157t0001 a0116c0129t0002 a0120c0119t0002 a0121c0137t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(199): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0230 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0011g0384 a0001c0001t0014g0386 a0001c0001t0016g0023 a0001c0001t0023g0069 a0001c0014t0002g0232 a0001c0014t0002g0234 a0001c0014t0002g0279 a0001c0014t0002g0281 a0001c0014t0002g0295 a0001c0024t0002g0335 a0001c0024t0002g0337 a0001c0024t0002g0339 a0001c0103t0002g0262 a0001c0107t0002g0233 a0001c0111t0002g0253 a0001c0120t0039g0399 a0001c0148t0002g0266 a0004c0004t0003g0019 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0353 a0004c0004t0003g0357 a0004c0004t0003g0358 a0004c0004t0003g0364 a0004c0004t0003g0366 a0004c0004t0003g0367 a0004c0004t0003g0369 a0004c0004t0003g0371 a0004c0004t0031g0380 a0005c0005t0007g0033 a0005c0005t0007g0036 a0005c0005t0007g0037 a0005c0005t0007g0038 a0005c0005t0008g0005 a0005c0005t0008g0026 a0005c0005t0008g0027 a0005c0005t0008g0028 a0005c0005t0008g0029 a0005c0005t0019g0031 a0005c0005t0020g0032 a0006c0006t0003g0340 a0006c0006t0003g0345 a0006c0006t0003g0348 a0006c0006t0003g0349 a0006c0006t0003g0351 a0006c0006t0003g0352 a0006c0006t0003g0354 a0006c0006t0003g0356 a0006c0006t0003g0360 a0006c0006t0003g0361 a0006c0006t0017g0024 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0287 a0007c0007t0002g0288 a0007c0007t0002g0322 a0007c0007t0002g0334 a0007c0094t0002g0245 a0007c0118t0002g0300 a0009c0010t0002g0016 a0009c0010t0002g0261 a0009c0010t0002g0298 a0009c0010t0002g0309 a0009c0010t0002g0314 a0009c0010t0002g0320 a0009c0040t0002g0231 a0009c0040t0002g0280 a0011c0011t0003g0341 a0011c0011t0003g0342 a0011c0011t0003g0343 a0011c0011t0003g0344 a0011c0011t0003g0372 a0011c0011t0013g0020 a0013c0019t0001g0159 a0013c0019t0001g0187 a0013c0019t0005g0049 a0013c0019t0005g0051 a0013c0060t0001g0082 a0014c0015t0002g0014 a0014c0015t0002g0260 a0014c0015t0002g0282 a0014c0015t0002g0290 a0018c0018t0001g0128 a0018c0018t0001g0148 a0018c0018t0001g0174 a0018c0018t0001g0176 a0020c0017t0001g0078 a0020c0017t0001g0079 a0020c0017t0001g0081 a0020c0017t0001g0210 a0022c0031t0002g0248 a0022c0031t0002g0249 a0022c0039t0002g0285 a0022c0039t0002g0330 a0025c0023t0002g0015 a0025c0023t0002g0291 a0026c0021t0001g0003 a0027c0044t0001g0103 a0027c0044t0001g0125 a0027c0121t0001g0107 a0028c0029t0009g0389 a0028c0029t0009g0390 a0028c0116t0035g0395 a0029c0028t0001g0090 a0029c0028t0001g0092 a0029c0028t0001g0196 a0030c0043t0001g0094 a0030c0043t0001g0200 a0030c0132t0001g0118 a0033c0104t0002g0293 a0033c0147t0002g0278 a0038c0049t0003g0018 a0039c0042t0002g0228 a0039c0042t0002g0246 a0041c0035t0001g0010 a0043c0153t0001g0072 a0043c0154t0001g0073 a0045c0048t0003g0017 a0049c0045t0001g0007 a0052c0139t0002g0235 a0053c0086t0001g0150 a0054c0140t0002g0306 a0056c0138t0002g0318 a0057c0145t0003g0362 a0058c0101t0002g0284 a0061c0089t0002g0227 a0062c0146t0003g0350 a0063c0064t0009g0391 a0065c0112t0002g0247 a0067c0057t0001g0191 a0070c0090t0007g0039 a0072c0058t0002g0301 a0074c0059t0001g0189 a0076c0102t0002g0259 a0077c0159t0008g0025 a0079c0109t0002g0325 a0080c0141t0003g0359 a0082c0097t0002g0336 a0084c0095t0002g0236 a0086c0055t0011g0383 a0087c0083t0010g0375 a0088c0150t0001g0071 a0089c0088t0002g0315 a0090c0142t0034g0394 a0093c0135t0038g0398 a0095c0158t0040g0400 a0096c0091t0018g0030 a0097c0113t0002g0263 a0100c0070t0001g0080 a0102c0099t0002g0238 a0104c0093t0002g0254 a0105c0123t0001g0122 a0106c0136t0024g0070 a0112c0072t0001g0153 a0113c0157t0001g0076 a0116c0129t0002g0329 a0120c0119t0002g0229 a0121c0137t0002g0269	223	428	0.5210	-126	c.283 others(9): Show c.2830_2955del	p.Lys others(13): Show p.Lys944_Ser985del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5702/6369	2830/3486	944/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29382284	TCCCCGCA others(119): Show TCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCGGCTGAGGGTGGAAGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00741.hp1 others(37): Show HG00099.hp2 HG00140.hp2 HG00741.hp1 HG01106.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG02132.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp1 NA18522.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18965.hp2 NA18969.hp1 NA19030.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0009 a0011 a0018 others(14): Show a0009 a0011 a0018 a0021 a0029 a0042 a0059 a0062 a0063 a0084 a0087 a0089 a0097 a0102 a0105 a0113 a0121	a0009c0010 a0009c0040 a0011c0011 others(15): Show a0009c0010 a0009c0040 a0011c0011 a0018c0018 a0021c0020 a0029c0028 a0042c0030 a0059c0143 a0062c0146 a0063c0064 a0084c0095 a0087c0083 a0089c0088 a0097c0113 a0102c0099 a0105c0123 a0113c0157 a0121c0137	a0009c0010t0002 a0009c0040t0002 a0011c0011t0003 others(18): Show a0009c0010t0002 a0009c0040t0002 a0011c0011t0003 a0011c0011t0013 a0018c0018t0001 a0021c0020t0010 a0021c0020t0028 a0029c0028t0001 a0042c0030t0001 a0042c0030t0037 a0059c0143t0003 a0062c0146t0003 a0063c0064t0009 a0084c0095t0002 a0087c0083t0010 a0089c0088t0002 a0097c0113t0002 a0102c0099t0002 a0105c0123t0001 a0113c0157t0001 a0121c0137t0002	a0009c0010t0002g0016 a0009c0010t0002g0261 a0009c0010t0002g0298 others(35): Show a0009c0010t0002g0016 a0009c0010t0002g0261 a0009c0010t0002g0298 a0009c0010t0002g0309 a0009c0010t0002g0314 a0009c0010t0002g0320 a0009c0040t0002g0231 a0009c0040t0002g0280 a0011c0011t0003g0341 a0011c0011t0003g0342 a0011c0011t0003g0343 a0011c0011t0003g0344 a0011c0011t0003g0372 a0011c0011t0013g0020 a0018c0018t0001g0128 a0018c0018t0001g0148 a0018c0018t0001g0174 a0018c0018t0001g0176 a0021c0020t0010g0374 a0021c0020t0010g0376 a0021c0020t0010g0377 a0021c0020t0028g0373 a0029c0028t0001g0090 a0029c0028t0001g0092 a0029c0028t0001g0196 a0042c0030t0001g0086 a0042c0030t0037g0397 a0059c0143t0003g0355 a0062c0146t0003g0350 a0063c0064t0009g0391 a0084c0095t0002g0236 a0087c0083t0010g0375 a0089c0088t0002g0315 a0097c0113t0002g0263 a0102c0099t0002g0238 a0105c0123t0001g0122 a0113c0157t0001g0076 a0121c0137t0002g0269	40	428	0.0935	-126	c.252 others(9): Show c.2522_2647del	p.Gly others(13): Show p.Gly841_Gly882del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5394/6369	2522/3486	841/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383005	GTCTTGAG others(119): Show GTCTTGAGATTATCATCCGCTGACGGTGGAAGCGGAACCCGCAGATGCTC AGCAGGTATCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAA GGGGAGTGAGCTGACGCTCGGAAGGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG06807.hp2 HG06807.hp2	a0093 a0093	a0093c0135 a0093c0135	a0093c0135t0038 a0093c0135t0038	a0093c0135t0038g0398 a0093c0135t0038g0398	1	428	0.0023	-126	c.180 others(9): Show c.1801_1926del	p.Asp others(13): Show p.Asp601_Arg642del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4673/6369	1801/3486	601/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(119): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 NA18943.hp1 HG02015.hp2 NA18943.hp1	a0065 a0097 a0065 a0097	a0065c0112 a0097c0113 a0065c0112 a0097c0113	a0065c0112t0002 a0097c0113t0002 a0065c0112t0002 a0097c0113t0002	a0065c0112t0002g0247 a0097c0113t0002g0263 a0065c0112t0002g0247 a0097c0113t0002g0263	2	428	0.0047	-126	c.155 others(9): Show c.1557_1682del	p.Glu others(13): Show p.Glu520_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1557/3486	519/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383311	TTGTCTTG others(119): Show TTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGA GTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGG AAGCGGCCCCCGCAGATGCTCGGCAGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(56): Show a0001 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0018 a0021 a0024 a0026 a0028 a0032 a0033 a0037 a0039 a0044 a0045 a0047 a0048 a0051 a0052 a0054 a0055 a0058 a0059 a0060 a0061 a0062 a0068 a0070 a0071 a0072 a0074 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0086 a0087 a0089 a0092 a0096 a0101 a0102 a0104 a0106 a0110 a0112 a0115 a0118 a0120	a0001c0001 a0001c0014 a0001c0024 others(75): Show a0001c0001 a0001c0014 a0001c0024 a0001c0103 a0001c0106 a0001c0107 a0001c0111 a0001c0120 a0001c0148 a0004c0004 a0005c0005 a0006c0006 a0008c0009 a0008c0081 a0008c0085 a0009c0010 a0009c0040 a0011c0011 a0012c0012 a0012c0071 a0013c0019 a0013c0060 a0014c0015 a0015c0041 a0015c0098 a0015c0105 a0015c0110 a0018c0018 a0021c0020 a0024c0026 a0026c0021 a0028c0029 a0028c0116 a0032c0037 a0032c0084 a0033c0104 a0033c0147 a0037c0047 a0039c0042 a0044c0038 a0045c0048 a0047c0036 a0048c0050 a0051c0114 a0052c0139 a0054c0140 a0055c0144 a0058c0101 a0059c0143 a0060c0156 a0061c0089 a0062c0146 a0068c0082 a0070c0090 a0071c0092 a0072c0058 a0074c0059 a0076c0102 a0077c0159 a0078c0077 a0079c0109 a0080c0141 a0081c0100 a0082c0097 a0086c0055 a0087c0083 a0089c0088 a0092c0117 a0096c0091 a0101c0087 a0102c0099 a0104c0093 a0106c0136 a0110c0073 a0112c0072 a0115c0052 a0118c0079 a0120c0119	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(89): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0014t0002 a0001c0024t0002 a0001c0103t0002 a0001c0106t0002 a0001c0107t0002 a0001c0111t0002 a0001c0120t0039 a0001c0148t0002 a0004c0004t0003 a0004c0004t0031 a0005c0005t0007 a0005c0005t0008 a0005c0005t0019 a0005c0005t0020 a0006c0006t0003 a0006c0006t0017 a0008c0009t0004 a0008c0009t0022 a0008c0081t0004 a0008c0085t0004 a0009c0010t0002 a0009c0040t0002 a0011c0011t0003 a0011c0011t0013 a0012c0012t0001 a0012c0012t0005 a0012c0071t0001 a0013c0019t0001 a0013c0019t0005 a0013c0060t0001 a0014c0015t0002 a0015c0041t0002 a0015c0098t0002 a0015c0105t0011 a0015c0110t0002 a0018c0018t0001 a0021c0020t0010 a0021c0020t0028 a0024c0026t0012 a0026c0021t0001 a0028c0029t0009 a0028c0116t0035 a0032c0037t0004 a0032c0084t0004 a0033c0104t0002 a0033c0147t0002 a0037c0047t0002 a0039c0042t0002 a0044c0038t0007 a0045c0048t0003 a0047c0036t0004 a0048c0050t0001 a0051c0114t0002 a0052c0139t0002 a0054c0140t0002 a0055c0144t0003 a0058c0101t0002 a0059c0143t0003 a0060c0156t0002 a0061c0089t0002 a0062c0146t0003 a0068c0082t0004 a0070c0090t0007 a0071c0092t0007 a0072c0058t0002 a0074c0059t0001 a0076c0102t0002 a0077c0159t0008 a0078c0077t0001 a0079c0109t0002 a0080c0141t0003 a0081c0100t0002 a0082c0097t0002 a0086c0055t0011 a0087c0083t0010 a0089c0088t0002 a0092c0117t0002 a0096c0091t0018 a0101c0087t0001 a0102c0099t0002 a0104c0093t0002 a0106c0136t0024 a0110c0073t0001 a0112c0072t0001 a0115c0052t0021 a0118c0079t0001 a0120c0119t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(198): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0230 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0011g0384 a0001c0001t0014g0386 a0001c0001t0016g0023 a0001c0001t0023g0069 a0001c0014t0002g0232 a0001c0014t0002g0234 a0001c0014t0002g0279 a0001c0014t0002g0281 a0001c0014t0002g0295 a0001c0024t0002g0335 a0001c0024t0002g0337 a0001c0024t0002g0339 a0001c0103t0002g0262 a0001c0106t0002g0268 a0001c0107t0002g0233 a0001c0111t0002g0253 a0001c0120t0039g0399 a0001c0148t0002g0266 a0004c0004t0003g0019 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0353 a0004c0004t0003g0357 a0004c0004t0003g0358 a0004c0004t0003g0364 a0004c0004t0003g0366 a0004c0004t0003g0367 a0004c0004t0003g0369 a0004c0004t0003g0371 a0004c0004t0031g0380 a0005c0005t0007g0033 a0005c0005t0007g0036 a0005c0005t0007g0037 a0005c0005t0007g0038 a0005c0005t0008g0005 a0005c0005t0008g0026 a0005c0005t0008g0027 a0005c0005t0008g0028 a0005c0005t0008g0029 a0005c0005t0019g0031 a0005c0005t0020g0032 a0006c0006t0003g0340 a0006c0006t0003g0345 a0006c0006t0003g0348 a0006c0006t0003g0349 a0006c0006t0003g0351 a0006c0006t0003g0352 a0006c0006t0003g0354 a0006c0006t0003g0356 a0006c0006t0003g0360 a0006c0006t0003g0361 a0006c0006t0017g0024 a0008c0009t0004g0002 a0008c0009t0004g0059 a0008c0009t0004g0062 a0008c0009t0004g0064 a0008c0009t0022g0068 a0008c0081t0004g0063 a0008c0085t0004g0067 a0009c0010t0002g0016 a0009c0010t0002g0261 a0009c0010t0002g0298 a0009c0010t0002g0309 a0009c0010t0002g0314 a0009c0010t0002g0320 a0009c0040t0002g0231 a0009c0040t0002g0280 a0011c0011t0003g0341 a0011c0011t0003g0342 a0011c0011t0003g0343 a0011c0011t0003g0344 a0011c0011t0003g0372 a0011c0011t0013g0020 a0012c0012t0001g0158 a0012c0012t0001g0184 a0012c0012t0001g0190 a0012c0012t0001g0193 a0012c0012t0005g0044 a0012c0071t0001g0162 a0013c0019t0001g0159 a0013c0019t0001g0187 a0013c0019t0005g0049 a0013c0019t0005g0051 a0013c0060t0001g0082 a0014c0015t0002g0014 a0014c0015t0002g0260 a0014c0015t0002g0282 a0014c0015t0002g0290 a0015c0041t0002g0241 a0015c0041t0002g0243 a0015c0098t0002g0296 a0015c0105t0011g0385 a0015c0110t0002g0312 a0018c0018t0001g0128 a0018c0018t0001g0148 a0018c0018t0001g0174 a0018c0018t0001g0176 a0021c0020t0010g0374 a0021c0020t0010g0376 a0021c0020t0010g0377 a0021c0020t0028g0373 a0024c0026t0012g0021 a0024c0026t0012g0388 a0026c0021t0001g0003 a0028c0029t0009g0389 a0028c0029t0009g0390 a0028c0116t0035g0395 a0032c0037t0004g0057 a0032c0037t0004g0065 a0032c0084t0004g0066 a0033c0104t0002g0293 a0033c0147t0002g0278 a0037c0047t0002g0237 a0037c0047t0002g0239 a0039c0042t0002g0228 a0039c0042t0002g0246 a0044c0038t0007g0034 a0044c0038t0007g0035 a0045c0048t0003g0017 a0047c0036t0004g0006 a0048c0050t0001g0202 a0048c0050t0001g0203 a0051c0114t0002g0333 a0052c0139t0002g0235 a0054c0140t0002g0306 a0055c0144t0003g0365 a0058c0101t0002g0284 a0059c0143t0003g0355 a0060c0156t0002g0242 a0061c0089t0002g0227 a0062c0146t0003g0350 a0068c0082t0004g0060 a0070c0090t0007g0039 a0071c0092t0007g0040 a0072c0058t0002g0301 a0074c0059t0001g0189 a0076c0102t0002g0259 a0077c0159t0008g0025 a0078c0077t0001g0192 a0079c0109t0002g0325 a0080c0141t0003g0359 a0081c0100t0002g0313 a0082c0097t0002g0336 a0086c0055t0011g0383 a0087c0083t0010g0375 a0089c0088t0002g0315 a0092c0117t0002g0307 a0096c0091t0018g0030 a0101c0087t0001g0167 a0102c0099t0002g0238 a0104c0093t0002g0254 a0106c0136t0024g0070 a0110c0073t0001g0156 a0112c0072t0001g0153 a0115c0052t0021g0041 a0118c0079t0001g0163 a0120c0119t0002g0229	220	428	0.5140	-126	c.149 others(9): Show c.1495_1620del	p.Pro others(13): Show p.Pro499_Thr540del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4367/6369	1495/3486	499/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383427	TGCTCGGC others(119): Show TGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCGG CTGAGGGTGGAAGCGGCCCCCGCAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0109 a0109	a0109c0068 a0109c0068	a0109c0068t0005 a0109c0068t0005	a0109c0068t0005g0052 a0109c0068t0005g0052	1	428	0.0023	-126	c.137 others(9): Show c.1379_1504del	p.Arg others(13): Show p.Arg460_Glu501del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4251/6369	1379/3486	460/1161			chr16	TogoVar

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