Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITGAM_chr16_31254975_31337877	31334555	CTCCTTCC others(47): Show CTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02055.hp2 others(10): Show HG01106.hp1 HG01891.hp1 HG02055.hp2 HG02071.hp1 HG02486.hp1 HG02895.hp1 HG02970.hp1 HG03017.hp2 HG03579.hp2 HG03942.hp1 HG04199.hp1 NA18522.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0060 a0002c0003t0003g0062 a0002c0003t0003g0088 others(10): Show a0002c0003t0003g0060 a0002c0003t0003g0062 a0002c0003t0003g0088 a0002c0003t0003g0102 a0002c0003t0003g0122 a0002c0003t0003g0124 a0002c0003t0003g0126 a0002c0003t0003g0127 a0004c0006t0003g0007 a0004c0006t0003g0009 a0004c0006t0003g0010 a0004c0006t0003g0011 a0004c0006t0003g0013	13	244	0.0533	-54	c.28 others(65): Show c.2849_*2902delTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCC TTCCTTCCTTCCTTTCTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1679		chr16	TogoVar
ITIH5_chr10_7554270_7671966	7556067	CATATATA others(47): Show CATATATATATATGTATATATATATATATATATGTGTGTGTGTATATATA TATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02055.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0042 a0004c0007t0055 a0001c0001t0042 a0004c0007t0055	a0001c0001t0042g0261 a0004c0007t0055g0081 a0001c0001t0042g0261 a0004c0007t0055g0081	2	342	0.0059	-54	c.69 others(65): Show c.6962_*7015delATATATATATATACACACACACATATATATATAT ATATATACATATATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3202		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566820	GGAAGAGG others(47): Show GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0023 a0023	a0023c0070 a0023c0070	a0023c0070t0001 a0023c0070t0001	a0023c0070t0001g0165 a0023c0070t0001g0165	1	342	0.0029	-54	c.215 others(71): Show c.2150-467_2150-414delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTCCTCTTCCTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(47): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	342	0.0029	-54	c.215 others(71): Show c.2150-473_2150-420delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCCTCTTCCTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629233	ATGTTGTA others(47): Show ATGTTGTAGCGTGTGTCCATGTTGTAGCGTGTGTCCATGTTGTAGCGTGT GTCCC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	342	0.0029	-54	c.652 others(71): Show c.652+7941_652+7994delGGGACACACGCTACAACATGGACACACG CTACAACATGGACACACGCTACAACA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629266	TCCATGTT others(47): Show TCCATGTTGTAGCGTGTGTCCCTGTTGTAGCGTGTGTCCATGTTGTAGCG TGTGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02145.hp1 others(1): Show HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02615.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0057 a0000c0063 a0001c0001 others(1): Show a0000c0057 a0000c0063 a0001c0001 a0002c0004	a0000c0057t0035 a0000c0063t0014 a0001c0001t0042 others(1): Show a0000c0057t0035 a0000c0063t0014 a0001c0001t0042 a0002c0004t0003	a0000c0057t0035g0191 a0000c0063t0014g0263 a0001c0001t0042g0261 others(1): Show a0000c0057t0035g0191 a0000c0063t0014g0263 a0001c0001t0042g0261 a0002c0004t0003g0259	4	342	0.0117	-54	c.652 others(71): Show c.652+7908_652+7961delGCACACGCTACAACATGGACACACGCTA CAACAGGGACACACGCTACAACATGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629320	CCCATGTT others(47): Show CCCATGTTGTAGCGTGTGCCCATGTTGTAGCGTGTGTCCCTGTTGTAGCG TGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01070.hp1 others(35): Show HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01981.hp1 HG01993.hp2 HG02083.hp2 HG02148.hp2 HG02293.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA18949.hp2 NA18952.hp1 NA18965.hp2 NA18984.hp1 NA19007.hp2 NA19030.hp2 NA19056.hp1	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0008 a0016 a0022 a0023 a0032	a0000c0011 a0000c0013 a0000c0014 others(16): Show a0000c0011 a0000c0013 a0000c0014 a0000c0026 a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0017 a0002c0021 a0003c0002 a0003c0005 a0004c0007 a0004c0008 a0008c0020 a0016c0073 a0022c0044 a0023c0070 a0032c0071	a0000c0011t0007 a0000c0011t0030 a0000c0011t0031 others(24): Show a0000c0011t0007 a0000c0011t0030 a0000c0011t0031 a0000c0013t0037 a0000c0014t0034 a0000c0014t0036 a0000c0026t0014 a0001c0001t0001 a0001c0001t0044 a0001c0006t0001 a0001c0006t0017 a0002c0003t0012 a0002c0003t0043 a0002c0004t0001 a0002c0017t0008 a0002c0021t0003 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0004c0007t0055 a0004c0007t0056 a0004c0008t0054 a0008c0020t0001 a0016c0073t0001 a0022c0044t0005 a0023c0070t0001 a0032c0071t0001	a0000c0011t0007g0084 a0000c0011t0030g0013 a0000c0011t0031g0260 others(35): Show a0000c0011t0007g0084 a0000c0011t0030g0013 a0000c0011t0031g0260 a0000c0013t0037g0251 a0000c0014t0034g0190 a0000c0014t0036g0211 a0000c0026t0014g0188 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0257 a0001c0001t0044g0184 a0001c0006t0001g0132 a0001c0006t0017g0156 a0002c0003t0012g0021 a0002c0003t0043g0020 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0164 a0002c0004t0001g0186 a0002c0017t0008g0085 a0002c0017t0008g0087 a0002c0021t0003g0181 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0175 a0003c0002t0002g0177 a0003c0002t0002g0183 a0003c0005t0001g0108 a0004c0007t0055g0081 a0004c0007t0056g0086 a0004c0008t0054g0004 a0008c0020t0001g0083 a0016c0073t0001g0157 a0022c0044t0005g0082 a0023c0070t0001g0165 a0032c0071t0001g0171	38	342	0.1111	-54	c.652 others(71): Show c.652+7854_652+7907delACACACGCTACAACAGGGACACACGCTA CAACATGGGCACACGCTACAACATGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITPA_chr20_3204498_3228860	3228014	CCCTCCTG others(47): Show CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCT GGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	414	0.0024	-54	c.45 others(65): Show c.4553_*4606delCCTCCTGCCCACCACCCACCCCAGCCCGCCCACT CTCCACCTCTAGGCTGGGCT	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		4155		chr20	TogoVar
ITPA_chr20_3204498_3228860	3228032	ACCCCAGC others(47): Show ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCC AGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01099.hp1 others(3): Show HG00099.hp1 HG00323.hp2 HG01099.hp1 HG01496.hp1 HG02015.hp1 NA19055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0027 a0002c0004t0002g0091 a0002c0004t0002g0092 others(2): Show a0002c0004t0002g0027 a0002c0004t0002g0091 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0004t0002g0094	6	414	0.0145	-54	c.45 others(65): Show c.4571_*4624delCCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGG CTCCTCCTGCCCGCCAGCCT	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		4173		chr20	TogoVar
ITSN2_chr2_24197864_24365536	24251343	ATATATGT others(47): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTGTATATAT ATGTG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	224	0.0045	-54	c.312 others(72): Show c.3120+948_3120+1001delCACATATATATACACATACATATATAC ACACACACACACACACACACACATATA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132149741	CACCTCAC others(47): Show CACCTCACCCCTGCCCCCACCCCGCCCTACCTCACCCCTGCCCCCACCCC ACCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03492.hp1 HG01175.hp1 HG03492.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0007 a0002c0008 a0004c0007	a0002c0008t0004 a0004c0007t0004 a0002c0008t0004 a0004c0007t0004	a0002c0008t0004g0128 a0004c0007t0004g0092 a0002c0008t0004g0128 a0004c0007t0004g0092	2	158	0.0127	-54	c.194 others(71): Show c.1948-192_1948-139delCACCCTACCTCACCCCTGCCCCCACCCC GCCCTACCTCACCCCTGCCCCCACCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159116	CCCCGTGT others(47): Show CCCCGTGTGATTCTGGGGGCGTCTCTCCTTGTGTGATGTTGTGGGGGTAT CTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01069.hp2 others(5): Show HG00280.hp1 HG00642.hp1 HG01069.hp2 HG01167.hp1 HG01255.hp2 HG02615.hp1 HG03041.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0003 a0002c0004t0004 a0001c0006t0003 a0002c0004t0004	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 others(5): Show a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0141	8	158	0.0506	-54	c.222 others(73): Show c.2221-4090_2221-4037delCGTGTGATTCTGGGGGCGTCTCTCCT TGTGTGATGTTGTGGGGGTATCTCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132188029	GCGAGGAA others(47): Show GCGAGGAAGGAGCCCTCCCCTCTCCAGATGGGAGGGGCTGCTGCCTCCAG AGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0026 a0004c0007t0002g0026	1	158	0.0063	-54	c.67 others(65): Show c.6777_*6830delCGAGGAAGGAGCCCTCCCCTCTCCAGATGGGAGG GGCTGCTGCCTCCAGAGGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		3172		chr10	TogoVar
JMY_chr5_79231131_79332211	79270333	TTAAAATA others(47): Show TTAAAATATATATTTACATAAATATTTAAAATGTATATTTACATAAATAT TTACA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	342	0.0029	-54	c.103 others(73): Show c.1033-7545_1033-7492delGTATATTTACATAAATATTTACATAA AATATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270365	GTATATTT others(47): Show GTATATTTACATAAATATTTACATAAAATATATATTTACATAAATATTTA AAATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02976.hp2 others(5): Show HG01884.hp1 HG02630.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0002c0006 a0017c0024 a0002c0002 a0002c0006 a0017c0024	a0002c0002t0019 a0002c0002t0043 a0002c0006t0008 others(2): Show a0002c0002t0019 a0002c0002t0043 a0002c0006t0008 a0002c0006t0041 a0017c0024t0019	a0002c0002t0019g0039 a0002c0002t0043g0040 a0002c0006t0008g0004 others(5): Show a0002c0002t0019g0039 a0002c0002t0043g0040 a0002c0006t0008g0004 a0002c0006t0008g0009 a0002c0006t0008g0010 a0002c0006t0008g0012 a0002c0006t0041g0005 a0017c0024t0019g0038	8	342	0.0234	-54	c.103 others(73): Show c.1033-7524_1033-7471delCATAAAATATATATTTACATAAATAT TTAAAATATATATTTACATAAATATTTA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270437	TTAAAATA others(47): Show TTAAAATATATATTTACATAAATATTTAAAATGTATATTTACATAAATAT TTACA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	342	0.0029	-54	c.103 others(73): Show c.1033-7441_1033-7388delGTATATTTACATAAATATTTACATAA AATATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNB2_chr8_72532225_72943349	72561708	TATATATA others(47): Show TATATATATATATATATATATCTATATCTATATATATATGTATATATATA TATGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	164	0.0061	-54	c.-93 others(71): Show c.-93-5919_-93-5866delATATATCTATATCTATATATATATGTAT ATATATATATGGATATATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72561724	TATATCTA others(47): Show TATATCTATATCTATATATATATGTATATATATATATGGATATATATATA TATGG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	164	0.0061	-54	c.-93 others(71): Show c.-93-5913_-93-5860delCTATATCTATATATATATGTATATATAT ATATGGATATATATATATATGGATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNH8_chr3_19143510_19540642	19180235	GTTCAAAG others(47): Show GTTCAAAGGGCCAAGACAGACTTGGCCCTTCAAAGGGCCAAGACAGACTT GGCCC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG02965.hp1 others(1): Show HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0121 a0001c0001t0001g0129	4	134	0.0299	-54	c.76+ others(71): Show c.76+31457_76+31510delAGACTTGGCCCTTCAAAGGGCCAAGACA GACTTGGCCCTTCAAAGGGCCAAGAC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB1_chr5_170369671_170394367	170375533	TCCCTCAG others(47): Show TCCCTCAGCCCTTCACAGCTGGCTCTGCCCCTCAGCCCTTCACAGCTGGC TCTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG03139.hp1 HG01981.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0053 a0001c0001t0052 a0001c0001t0053	a0001c0001t0052g0096 a0001c0001t0053g0097 a0001c0001t0052g0096 a0001c0001t0053g0097	2	432	0.0046	-54	c.31 others(65): Show c.3117_*3170delGCAGAGCCAGCTGTGAAGGGCTGAGGGGCAGAGC CAGCTGTGAAGGGCTGAGGG	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding	4/4	3117		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170375560	CCCCTCAG others(47): Show CCCCTCAGCCCTTCACAGCTGGCTCTGCCCCTCAGCCCTTCACAGCTGGC TCTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(90): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp1 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18994.hp1 NA19002.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(21): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0083 a0002c0002t0031 a0003c0003t0008 a0004c0004t0019 a0004c0004t0051 a0004c0004t0054	a0001c0001t0002g0002 a0001c0001t0002g0032 a0001c0001t0002g0037 others(47): Show a0001c0001t0002g0002 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0008g0008 a0001c0001t0008g0146 a0001c0001t0008g0148 a0001c0001t0008g0150 a0001c0001t0010g0020 a0001c0001t0010g0070 a0001c0001t0010g0100 a0001c0001t0010g0134 a0001c0001t0010g0152 a0001c0001t0010g0163 a0001c0001t0028g0055 a0001c0001t0028g0056 a0001c0001t0032g0098 a0001c0001t0032g0140 a0001c0001t0033g0046 a0001c0001t0042g0205 a0001c0001t0042g0209 a0001c0001t0044g0054 a0001c0001t0046g0059 a0001c0001t0055g0069 a0001c0001t0056g0147 a0001c0001t0057g0149 a0001c0001t0058g0101 a0001c0001t0059g0099 a0001c0001t0060g0141 a0001c0001t0061g0142 a0001c0001t0062g0143 a0001c0001t0063g0144 a0001c0001t0083g0206 a0002c0002t0031g0038 a0003c0003t0008g0181 a0004c0004t0019g0045 a0004c0004t0019g0124 a0004c0004t0019g0125 a0004c0004t0051g0120 a0004c0004t0054g0122	93	432	0.2153	-54	c.30 others(65): Show c.3090_*3143delACAGAGCCAGCTGTGAAGGGCTGAGGGGCAGAGC CAGCTGTGAAGGGCTGAGGG	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding	4/4	3090		chr5	TogoVar
KCTD16_chr5_144165873_144490686	144299044	CTATATAT others(47): Show CTATATATATATATATATATATATATATATTTTTGTATATATATATCACT ATGTA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01175.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0107 a0001c0001t0010g0080 a0001c0001t0010g0107	2	156	0.0128	-54	c.832 others(73): Show c.832+91528_832+91581delTTTTGTATATATATATCACTATGTAT ATATATATATATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144299078	GTATATAT others(47): Show GTATATATATATCACTATGTATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18963.hp2 HG02622.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0058 a0001c0001t0022 a0001c0001t0058	a0001c0001t0022g0010 a0001c0001t0058g0073 a0001c0001t0022g0010 a0001c0001t0058g0073	2	156	0.0128	-54	c.832 others(73): Show c.832+91544_832+91597delCACTATGTATATATATATATATATAT ATATATATATATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KDM7A_chr7_140079746_140181983	140100660	TTATATAT others(47): Show TTATATATATATATATATATACATATATACATATATATATATATATATAC ACATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	344	0.0029	-54	c.163 others(71): Show c.1639-691_1639-638delTATGTGTATATATATATATATATATGTA TATATGTATATATATATATATATATA	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KIF1A_chr2_240708767_240825219	240731878	AAGGGATG others(47): Show AAGGGATGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGAGGAG GGATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG02257.hp1 HG03209.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0097 a0001c0018t0002g0098 a0001c0018t0002g0097 a0001c0018t0002g0098	2	330	0.0061	-54	c.400 others(73): Show c.4008-4992_4008-4939delCATCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCATCCCT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	38/48			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245443756	AGGTCATC others(47): Show AGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCAC CCTGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp2 others(28): Show HG00323.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19074.hp2 NA20129.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0017	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0016 a0001c0035 a0001c0042 a0001c0046 a0001c0051 a0002c0003 a0002c0008 a0002c0056 a0013c0036 a0017c0039	a0001c0001t0002 a0001c0001t0067 a0001c0002t0001 others(24): Show a0001c0001t0002 a0001c0001t0067 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0077 a0001c0002t0078 a0001c0002t0081 a0001c0002t0085 a0001c0004t0007 a0001c0005t0010 a0001c0005t0014 a0001c0007t0016 a0001c0009t0051 a0001c0010t0015 a0001c0016t0044 a0001c0035t0084 a0001c0042t0030 a0001c0046t0057 a0001c0051t0047 a0002c0003t0006 a0002c0003t0070 a0002c0003t0083 a0002c0008t0004 a0002c0056t0034 a0013c0036t0011 a0017c0039t0042	a0001c0001t0002g0020 a0001c0001t0067g0013 a0001c0002t0001g0125 others(28): Show a0001c0001t0002g0020 a0001c0001t0067g0013 a0001c0002t0001g0125 a0001c0002t0003g0014 a0001c0002t0003g0029 a0001c0002t0003g0064 a0001c0002t0019g0144 a0001c0002t0077g0063 a0001c0002t0078g0005 a0001c0002t0081g0059 a0001c0002t0085g0001 a0001c0004t0007g0019 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0069 a0001c0007t0016g0054 a0001c0009t0051g0090 a0001c0010t0015g0068 a0001c0016t0044g0128 a0001c0035t0084g0088 a0001c0042t0030g0081 a0001c0046t0057g0079 a0001c0051t0047g0156 a0002c0003t0006g0116 a0002c0003t0070g0065 a0002c0003t0083g0085 a0002c0008t0004g0089 a0002c0008t0004g0105 a0002c0056t0034g0141 a0013c0036t0011g0135 a0017c0039t0042g0146	31	160	0.1938	-54	c.116 others(75): Show c.1166+24143_1166+24196delCTGCGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF9_chr9_70379604_70419657	70409031	TATATGTG others(47): Show TATATGTGTATATATATATACATATATGTGTATATATATGTGTATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	400	0.0025	-54	c.505 others(71): Show c.505+3774_505+3827delGTGTATATATATACACATATATATACAC ATATATGTATATATATATACACATAT	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLHDC4_chr16_87702812_87770986	87733693	GCCTCCTA others(47): Show GCCTCCTACTTAGGAATCCACTCCCTGGGATCCTCACTGATGACCTGCCT CTCCT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	380	0.0026	-54	c.507 others(71): Show c.507-3103_507-3050delAGGAGAGGCAGGTCATCAGTGAGGATCC CAGGGAGTGGATTCCTAAGTAGGAGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL17_chr1_955584_970719	970085	GGGGGGCT others(47): Show GGGGGGCTGTTCTTCACGTATGTGTTGTGTGGCTGTGCACAGGTTCTGTG CCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	432	0.0023	-54	c.48 others(65): Show c.4895_*4948delGGGGGCTGTTCTTCACGTATGTGTTGTGTGGCTG TGCACAGGTTCTGTGCCTGT	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding		4367		chr1	TogoVar
KNDC1_chr10_133155219_133231412	133163871	TCCACCTG others(47): Show TCCACCTGCCTTCCCAAATCCCTCCTCCCACCTGGGATGGGGGTGGAGTT CGTGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG02145.hp2 others(2): Show HG00642.hp2 HG01123.hp2 HG02145.hp2 HG02965.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0002c0005 others(1): Show a0001c0004 a0002c0002 a0002c0005 a0003c0016	a0001c0004t0022 a0002c0002t0002 a0002c0005t0001 others(1): Show a0001c0004t0022 a0002c0002t0002 a0002c0005t0001 a0003c0016t0006	a0001c0004t0022g0014 a0002c0002t0002g0120 a0002c0005t0001g0119 others(2): Show a0001c0004t0022g0014 a0002c0002t0002g0120 a0002c0005t0001g0119 a0003c0016t0006g0117 a0003c0016t0006g0118	5	332	0.0151	-54	c.102 others(71): Show c.102+3387_103-3372delCTGGGATGGGGGTGGAGTTCGTGGCCAC CTGCCTTCCCAAATCCCTCCTCCCAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133163979	GCCACCTG others(47): Show GCCACCTGCCTTCCCAAATCCCTCCTCCCACGTGGGATGGGGGTGGAGTT CATGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0011 a0011	a0011c0051 a0011c0051	a0011c0051t0002 a0011c0051t0002	a0011c0051t0002g0024 a0011c0051t0002g0024	1	332	0.0030	-54	c.103 others(71): Show c.103-3371_103-3318delGTGGGATGGGGGTGGAGTTCATGTCCAC CTGCCTTCCCAAATCCCTCCTCCCAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133164010	GTGGGATG others(47): Show GTGGGATGGGGGTGGAGTTCATGTCCACCTGCCTTCCCAAATCCCTCCTC CCACC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0116 a0002c0005t0002g0116	1	332	0.0030	-54	c.103 others(71): Show c.103-3333_103-3280delAAATCCCTCCTCCCACCTGGGATGGGGG TGGAGTTCATGTCCACCTGCCTTCCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133164069	ATGGGGGT others(47): Show ATGGGGGTGGAGTTCATGTCCACCTGCCTTCCCGAATCCCTCCTCCCACC TGGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(114): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0020 a0024 a0028 a0029	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0027 a0001c0054 a0001c0056 a0002c0002 a0002c0005 a0003c0011 a0003c0015 a0003c0016 a0004c0007 a0004c0028 a0005c0012 a0005c0048 a0006c0010 a0007c0009 a0008c0017 a0009c0013 a0010c0025 a0012c0045 a0020c0055 a0024c0059 a0028c0044 a0029c0069	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0027t0001 a0001c0054t0001 a0001c0056t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 a0003c0011t0001 a0003c0015t0001 a0003c0015t0002 a0003c0016t0006 a0004c0007t0002 a0004c0028t0002 a0005c0012t0002 a0005c0048t0002 a0006c0010t0001 a0007c0009t0001 a0007c0009t0002 a0008c0017t0016 a0009c0013t0002 a0010c0025t0002 a0012c0045t0006 a0020c0055t0002 a0024c0059t0002 a0028c0044t0001 a0029c0069t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0247 a0001c0001t0007g0006 a0001c0001t0019g0203 a0001c0001t0023g0006 a0001c0003t0001g0223 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0004t0002g0211 a0001c0027t0001g0221 a0001c0054t0001g0194 a0001c0056t0001g0208 a0002c0002t0001g0239 a0002c0002t0002g0008 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0001g0236 a0003c0015t0002g0237 a0003c0015t0002g0238 a0003c0016t0006g0225 a0004c0007t0002g0179 a0004c0028t0002g0134 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0048t0002g0173 a0006c0010t0001g0240 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0008c0017t0016g0253 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0010c0025t0002g0242 a0010c0025t0002g0243 a0012c0045t0006g0244 a0020c0055t0002g0241 a0024c0059t0002g0008 a0028c0044t0001g0318 a0029c0069t0002g0170	117	332	0.3524	-54	c.103 others(71): Show c.103-3297_103-3244delATGTCCACCTGCCTTCCCGAATCCCTCC TCCCACCTGGGTTGGGGGTGGAGTTC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA3_chr13_49694320_49797682	49795200	GCGGAGGT others(47): Show GCGGAGGTTGCAGTGAGTTGAGATTGCGCCACTGCACTCCAGCCTGGGTA ACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	376	0.0027	-54	c.-27 others(65): Show c.-2748_-2695delTCTGTTACCCAGGCTGGAGTGCAGTGGCGCAATC TCAACTCACTGCAACCTCCG	KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding		2519		chr13	TogoVar
KPNA7_chr7_99168572_99213115	99181067	CTCTCCAT others(47): Show CTCTCCATCTGTGTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTCTCCGT CTGTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	334	0.0030	-54	c.131 others(71): Show c.1317+762_1317+815delCACAGACGGAGAGAGAGACACAGACGGA GAGAGAGAGAGAGACACAGATGGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KTN1_chr14_55575207_55689579	55646464	CCTTTCCT others(47): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0005 a0010c0011t0005	a0010c0011t0005g0173 a0010c0011t0005g0173	1	314	0.0032	-54	c.217 others(71): Show c.2173-507_2173-454delTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTC	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
L3MBTL4_chr18_5949717_6419911	5958106	GAAGAAGA others(47): Show GAAGAAGAAGAAGAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGA AGAAC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02280.hp1 HG02809.hp2 others(3): Show HG00558.hp2 HG02280.hp1 HG02809.hp2 HG02818.hp2 HG03209.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0005 a0002c0002t0001 a0002c0006t0001 a0001c0001t0005 a0002c0002t0001 a0002c0006t0001	a0001c0001t0005g0046 a0002c0002t0001g0021 a0002c0002t0001g0066 others(3): Show a0001c0001t0005g0046 a0002c0002t0001g0021 a0002c0002t0001g0066 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0006t0001g0036	6	94	0.0638	-54	c.167 others(73): Show c.1678-1773_1678-1720delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTTCTTCTTCTTCTTCTTCTTCTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18			chr18	TogoVar
LAMB1_chr7_107918799_108008161	107923219	CATAAAAT others(47): Show CATAAAATACAATACAAAAGCTGAGAAATTAGAGCATCATTCTGTGCTCT GTAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02723.hp1 others(10): Show HG02280.hp1 HG02280.hp2 HG02723.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0026	a0001c0001 a0001c0002 a0001c0027 others(7): Show a0001c0001 a0001c0002 a0001c0027 a0001c0043 a0001c0072 a0002c0003 a0002c0013 a0004c0015 a0005c0065 a0026c0060	a0001c0001t0001 a0001c0002t0001 a0001c0027t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0027t0001 a0001c0043t0001 a0001c0072t0001 a0002c0003t0001 a0002c0013t0001 a0004c0015t0001 a0005c0065t0001 a0026c0060t0001	a0001c0001t0001g0151 a0001c0002t0001g0247 a0001c0027t0001g0349 others(10): Show a0001c0001t0001g0151 a0001c0002t0001g0247 a0001c0027t0001g0349 a0001c0043t0001g0127 a0001c0072t0001g0025 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0013t0001g0030 a0002c0013t0001g0034 a0002c0013t0001g0069 a0004c0015t0001g0140 a0005c0065t0001g0147 a0026c0060t0001g0036	13	364	0.0357	-54	c.67 others(63): Show c.678_*731delACTACAGAGCACAGAATGATGCTCTAATTTCTCAGC TTTTGTATTGTATTTTAT	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding		579		chr7	TogoVar
LARP1B_chr4_128056312_128216988	128176134	GTATATAT others(47): Show GTATATATATTTATATTATATATATAAATATATATATTATATATAAATAT ATAAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0189 a0003c0004t0001g0189	1	336	0.0030	-54	c.164 others(71): Show c.1649-732_1649-679delATATTTATATTATATATATAAATATATA TATTATATATAAATATATAAATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAT2_chr7_74205006_74234834	74214575	AATATATA others(47): Show AATATATATATAAATATATATATGAAAATATATATAAATATATATATGAA TATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp2 others(18): Show HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00673.hp1 HG01123.hp1 HG01943.hp1 HG02015.hp1 HG02056.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp2 HG02647.hp1 HG02895.hp1 HG02965.hp2 HG03195.hp2 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18999.hp2 NA19010.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 others(18): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0153 a0001c0001t0003g0058 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0054	21	344	0.0611	-54	c.-21 others(71): Show c.-218-235_-218-182delAATATATATATGAAAATATATATAAATA TATATATGAATATATATATATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LCN12_chr9_136947273_136960497	136957443	ATGGATGG others(47): Show ATGGATGGTTGGATGGTGGGTGGGTGGATGGATGGTTGGATGATGGGTGG GTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0002 a0001c0001t0001g0039	4	382	0.0105	-54	c.20 others(65): Show c.2045_*2098delTGGATGGTTGGATGGTGGGTGGGTGGATGGATGG TTGGATGATGGGTGGGTGGG	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding		1947		chr9	TogoVar
LDB2_chr4_16496541_16903645	16897895	AATATATA others(47): Show AATATATATATATATATATATATATATATATATATATATATATACACATA TGTAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0161 a0001c0001t0001g0006 a0001c0001t0001g0161	2	162	0.0124	-54	c.132 others(69): Show c.132+405_132+458delATACATATGTGTATATATATATATATATAT ATATATATATATATATATATATAT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18467937	ACACACAC others(47): Show ACACACACATATATATATACGTATATATATACGTATATATATACGTATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0262 a0001c0001t0008g0266 a0001c0001t0008g0262 a0001c0001t0008g0266	2	420	0.0048	-54	c.418 others(71): Show c.418+2130_418+2183delCACACATATATATATACGTATATATATA CGTATATATATACGTATATATATGCA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LHFPL3_chr7_104323603_104913561	104833267	ATATATAT others(47): Show ATATATATATAATAGGATATATATATATTATATATATAATAGGATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01074.hp1 others(34): Show HG00323.hp2 HG00733.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01517.hp1 HG01884.hp1 HG02074.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03516.hp1 HG03831.hp2 NA18612.hp1 NA18947.hp1 NA18972.hp2 NA18986.hp2 NA18994.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19085.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0005 a0001c0002t0012	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(34): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0002g0080 a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0046 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0005g0005 a0001c0001t0006g0006 a0001c0001t0008g0012 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0009g0035 a0001c0001t0010g0015 a0001c0001t0011g0057 a0001c0001t0011g0063 a0001c0002t0005g0011 a0001c0002t0005g0085 a0001c0002t0012g0008 a0001c0002t0012g0010	37	86	0.4302	-54	c.683 others(73): Show c.683-72840_683-72787delATTATATATATAATAGGATATATATA TATTATATATATAATAGGATATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LIMS2_chr2_127633426_127680530	127634690	AGGCCTCT others(47): Show AGGCCTCTGTGGAGCTGGGGGAGGGCGTGGCTGGGTGGGTCGAGGGGGCA CTGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0113 a0001c0001t0009g0114 a0001c0001t0009g0115	3	348	0.0086	-54	c.45 others(65): Show c.4537_*4590delGCCAGTGCCCCCTCGACCCACCCAGCCACGCCCT CCCCCAGCTCCACAGAGGCC	LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding		3735		chr2	TogoVar
LINGO1_chr15_77608027_77637912	77610944	AGTCTCTC others(47): Show AGTCTCTCCTGGGAGGAGGGGCAGGGCTGGGACGATGGAGGGGGCCCGTG CGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0172 a0001c0003t0006g0173	2	386	0.0052	-54	c.30 others(65): Show c.3046_*3099delCGGCGCACGGGCCCCCTCCATCGTCCCAGCCCTG CCCCTCCTCCCAGGAGAGAC	LINGO1	ENSG00000169783.13	transcript	ENST00000355300.7	protein_coding		2082		chr15	TogoVar
LOC101059915_chrX_71662546_71676527	71667567	GCCACGCG others(47): Show GCCACGCGCTGTCAGTGACATCTCGTGAGCAGACTGTGGTGAGGGTGGCG GTGTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0004 a0005c0021t0004	a0005c0021t0004g0013 a0005c0021t0004g0013	1	340	0.0029	-54	c.-23 others(63): Show c.-233_-180delCGCGCTGTCAGTGACATCTCGTGAGCAGACTGTGGT GAGGGTGGCGGTGTCCCA	LOC101059915	ENSG00000283599.3	transcript	ENST00000636096.3	protein_coding	1/6	180	INFO_REALIGN_3_PRIME	chrX	TogoVar
LOC112694756_chr16_30048151_30075414	30048239	ATAAATAC others(47): Show ATAAATACACATGAAAATTAGAAAACATGCATGTCTAATTTTTCTTTTTT TTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	332	0.0030	-54	c.-50 others(65): Show c.-5008_-4955delTAAATACACATGAAAATTAGAAAACATGCATGTC TAATTTTTCTTTTTTTTTTG	LOC112694756	ENSG00000285043.3	transcript	ENST00000338110.11	protein_coding		4911		chr16	TogoVar
LOC127933115_chrX_23778278_23788367	23780106	TATATACG others(47): Show TATATACGTATATATACACACATATATATGTGTATATATATGTATATATA TATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	334	0.0060	-54	c.-31 others(65): Show c.-3171_-3118delATATACGTATATATACACACATATATATGTGTAT ATATATGTATATATATATAC	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		3171		chrX	TogoVar
LPCAT1_chr5_1456427_1528960	1513648	GTTTCCTC others(47): Show GTTTCCTCCATTTCCACAGGCTCTCACCCGTGGGGCGGGACACCCTGCGA TTACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG03486.hp1 others(1): Show HG02717.hp2 HG02886.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0009 a0001c0001t0004 a0001c0001t0007 a0001c0003t0009	a0001c0001t0004g0106 a0001c0001t0007g0271 a0001c0003t0009g0239 others(1): Show a0001c0001t0004g0106 a0001c0001t0007g0271 a0001c0003t0009g0239 a0001c0003t0009g0240	4	386	0.0104	-54	c.135 others(73): Show c.135+10008_135+10061delTGTAATCGCAGGGTGTCCCGCCCCAC GGGTGAGAGCCTGTGGAAATGGAGGAAA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	1/13			chr5	TogoVar

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